Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia, Intenti... |
OMIM:610539 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive, Gait disturbance, Pallor |
ORPHA:79283 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear... |
ORPHA:90065 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome... |
OMIM:619644 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy, Ataxia, Obesity |
OMIM:620270 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Dementia, Hepatomegaly |
ORPHA:2274 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, J... |
OMIM:603552 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Failure to thrive, Ventricular septal defect, Mitral ... |
OMIM:612561 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert... |
ORPHA:263297 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Paresthesia, Pallor, Im... |
ORPHA:90064 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Heart block... |
ORPHA:398124 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent... |
OMIM:616860 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Depression, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Ragged-red muscle fibers, Generalized amyotrophy, Pallor, Lethargy, Hypertrophic cardiomyopathy, ... |
OMIM:613561 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... |
ORPHA:49827 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... |
ORPHA:57777 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... |
OMIM:604765 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, T lymphocytopenia, Ectopia pupillae, Contracture of the proximal interphal... |
OMIM:618223 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:52416 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Hypertension, Ectopia pupillae, Cognitive impairment |
ORPHA:1885 |
Thrombocytopenia 5 |
|
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Pterygium, Cardiac arrest, Cardiomegaly, Left ven... |
OMIM:618052 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Gait disturbance, Obesity |
ORPHA:436141 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n... |
OMIM:617872 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... |
OMIM:613243 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98855 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypertension, Abnormalit... |
ORPHA:2169 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Tremor, Splenomegaly, Choreoathetosis, Irritability, Dystonia,... |
OMIM:612126 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST... |
OMIM:261740 |
Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98853 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula... |
OMIM:613507 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... |
OMIM:253300 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Myofibrillar Myopathy 10 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow flexion cont... |
OMIM:619040 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu... |
ORPHA:98870 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... |
ORPHA:1055 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P... |
OMIM:612541 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98863 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis, Double outlet right ventricle,... |
OMIM:601127 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy... |
ORPHA:811 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... |
OMIM:608971 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Ataxia, Pallor |
ORPHA:71518 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Cogn... |
ORPHA:858 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Large for gestational age, Syncope, Palpitations, Pallor, Lethargy, Hypertrophic car... |
ORPHA:276556 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract |
OMIM:619813 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Ataxia, Pallor, Lethargy |
OMIM:500007 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, High-output congestive heart failur... |
ORPHA:231226 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait disturbance, Left ventricular hypertro... |
ORPHA:93952 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... |
ORPHA:97214 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fatty replacement of skeletal muscle, Proximal muscle weakness in lower limbs, Distal lower limb ... |
ORPHA:171706 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Broad-based gait, Ataxia, Inability to walk, Obesity |
OMIM:616756 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatosplenomegaly, Decr... |
OMIM:609628 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... |
OMIM:613839 |
Immunodeficiency 15B |
|
Monocytosis, Failure to thrive, Reduced natural killer cell count |
OMIM:615592 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata |
OMIM:609141 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hi... |
ORPHA:231214 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Large for gestational age, Syncope, Palpitations, Pallor, Lethargy, Hypertrophic car... |
ORPHA:276575 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly |
OMIM:619175 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:613313 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Pancreatic steatosis, T... |
OMIM:617052 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Conge... |
OMIM:269920 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Large for gestational age, Syncope, Palpitations, Pallor, Lethargy, Hypertrophic car... |
ORPHA:276580 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Failure to thrive, Hypouricemia, Increased circ... |
OMIM:613179 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Sandhoff Disease |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Progressive psychomotor deterioration, Moto... |
ORPHA:796 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
Narcolepsy Type 1 |
|
Syncope, Obesity |
ORPHA:2073 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Chorea, Aplasia/Hypoplasia... |
ORPHA:3099 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Ataxia, Impaired pain sensation, Unsteady gait, Obesity, Distal sensory impairment, Loss of ambul... |
OMIM:618124 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Transient ischemic attack, Confusion, Myocardial infarction, Tremor, Jaundice, S... |
OMIM:274150 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt... |
ORPHA:79477 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Dystonia, Thrombocytopenia, Splenomegaly, Hyperammonemia, Choreoathetosis, Cardiomy... |
ORPHA:79312 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect, Choreoathetosis |
OMIM:614249 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior chamber, Atrial sep... |
OMIM:602482 |
Myopathy, Tubular Aggregate, 1 |
|
Joint contracture, Abnormal pupil morphology, Flexion contracture, Elevated circulating creatine ... |
OMIM:160565 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia |
ORPHA:100025 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Arrhythmia, Abnormal EKG, Elevated circulating creatine kinase concentration |
OMIM:300376 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Epistaxis, Elevated circulating C-reactive protein concentration,... |
OMIM:614034 |
Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo... |
ORPHA:26793 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Optic Atrophy 1 |
|
Ataxia, Pallor |
OMIM:165500 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1937 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Immunodeficiency 75 With Lymphoproliferation |
|
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... |
OMIM:619126 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Short attention span, Hypercalcemia, Confusion, Hematemesis, Shortened ... |
ORPHA:652 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblastic leukemia, ... |
ORPHA:486 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Ly... |
OMIM:618886 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... |
OMIM:613845 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... |
OMIM:614096 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Obesi... |
OMIM:615996 |
Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Corneal opacity, Chronic noninfectious lymphaden... |
ORPHA:31150 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho... |
OMIM:607765 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypercalcemia, Shortened QT interval, Weight loss, Hypophosphatemia, L... |
ORPHA:143 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... |
OMIM:611590 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... |
ORPHA:90044 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Dystonia, Failure to th... |
OMIM:618278 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Obesity, Telangiectasia... |
ORPHA:459033 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Skeletal muscle atrophy, Ataxia, Thenar muscle atrophy, Impaired distal vibration sensation, Impa... |
OMIM:604360 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the pancreas, Abnormal lym... |
ORPHA:543 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... |
ORPHA:1067 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Cataract, Ventricular arrhythmia, Confusion, Depression, Abnormal left ven... |
ORPHA:36913 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Primary Lateral Sclerosis, Juvenile |
|
Loss of ambulation, Pallor, Spasticity of facial muscles, Spastic gait |
OMIM:606353 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Irritability, Dystonia, Thrombocytopenia |
OMIM:615010 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Acute pancreatit... |
ORPHA:466677 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
Cinca Syndrome |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Hepat... |
OMIM:607115 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Hypercalcemia, Shortened QT interval, Hypophosphatemia, Lipoma, Pancre... |
ORPHA:99880 |
Castleman Disease |
|
Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive protein concentratio... |
ORPHA:160 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Elevated circulating creatine kinase concentration |
ORPHA:101082 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Dystonia, Corneal opacity, Elevated circulating creatine kinase concentration, ... |
OMIM:175780 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve, Obesity |
OMIM:615981 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia |
ORPHA:100024 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... |
ORPHA:99103 |
Recessive Mitochondrial Ataxia Syndrome |
|
Increased serum pyruvate, ST segment elevation, Cognitive impairment |
ORPHA:94125 |
Nemaline Myopathy 9 |
|
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect |
OMIM:615731 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Angina pectoris, Corneal opacity, Splenome... |
ORPHA:79292 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... |
OMIM:277410 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... |
OMIM:615513 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H... |
OMIM:235400 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect, Gait ataxia |
OMIM:619717 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ventricular septal defect, Small for gestational age, Pure red cell aplas... |
ORPHA:124 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... |
ORPHA:300298 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome... |
OMIM:612840 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Increased mean corpu... |
OMIM:612562 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Tachycardia, Increased body weight, Pallor |
ORPHA:276608 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... |
ORPHA:507 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,... |
OMIM:602390 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia |
OMIM:617585 |
Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Cataract, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacu... |
OMIM:256550 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Mehmo Syndrome |
|
Small for gestational age, Inability to walk, Obesity, Gait ataxia, Difficulty walking |
OMIM:300148 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elev... |
OMIM:613327 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscul... |
ORPHA:261250 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Joint contracture, Cataract, Elevated circulating creatine kinase concentr... |
OMIM:615351 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomeg... |
OMIM:612526 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Tularemia |
|
Brain abscess, Tachycardia, Confusion, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, ... |
ORPHA:3392 |
Rhabdoid Tumor |
|
Hypercalcemia, Lymphadenopathy, Anemia, Hypertension, Neoplasm of the liver, Weight loss, Irritab... |
ORPHA:69077 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Multiple lipomas, D... |
OMIM:617675 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Abnormal dental enamel morphology, Progressive psychomotor deterioration, Obesity,... |
ORPHA:251004 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Confusion, Splenomegaly, Jaundice, Depression, Hypertension |
OMIM:121300 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Dystonia, Hepatomegaly |
ORPHA:139406 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Ataxia, Pallor, Gait disturbance |
ORPHA:29822 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Failure to thrive, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1388 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... |
OMIM:212050 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Congestiv... |
OMIM:235200 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Small for gestational age, Large for gestational age, Syncope, Palpitations, Pallor,... |
ORPHA:324575 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:611762 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension, Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension, Abdominal obesity |
OMIM:605572 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Scarring alopecia of scalp, Ectopia pupillae, Astigmatism, Enamel hypoplasia |
OMIM:618727 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... |
OMIM:615779 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic st... |
OMIM:614480 |
Leber Congenital Amaurosis 14 |
|
Falls, Pallor |
OMIM:613341 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG, Elevated circulating creatine kinase concentration |
OMIM:309930 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Splen... |
ORPHA:93476 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Obesity, Myocardial infarction |
OMIM:608320 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... |
OMIM:249670 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Celluli... |
OMIM:618986 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... |
ORPHA:1354 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Cognitive impairment, Failure to... |
ORPHA:172 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly |
ORPHA:86893 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612926 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... |
OMIM:616828 |
Gitelman Syndrome |
|
Prolonged QT interval, Neoplasm of the pancreas, Failure to thrive, Pericardial effusion, Raynaud... |
ORPHA:358 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Weight loss |
ORPHA:79238 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Cataract, Foot joint contracture, Scarring, Tremor, Uveitis, Hypertension, Conjunct... |
ORPHA:90321 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Budd-Ch... |
OMIM:127550 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... |
ORPHA:158061 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... |
ORPHA:381 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Confusion, Cardiomegaly, Conges... |
OMIM:212140 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Confusion, Increased cir... |
ORPHA:71212 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Heart mu... |
OMIM:615418 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal dermoid, Heterochro... |
ORPHA:2969 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Umbilical hernia, Dry skin, Obesity |
ORPHA:1035 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612924 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Failure to thrive, Acanth... |
ORPHA:14 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612925 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Elevated circulating C-reactive protein concentrati... |
ORPHA:85414 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Small for gestational age, Cardiomegaly, Pericardial effusion, Hyperammonemia,... |
OMIM:614702 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... |
OMIM:620282 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Hypergalactosemia, Failure to thrive |
OMIM:230350 |
Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... |
ORPHA:90647 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly |
ORPHA:88643 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Acanthocyt... |
OMIM:300842 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... |
OMIM:620135 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Cardiac arrest, Splenomegaly, Flexion contracture, Dystonia |
ORPHA:77260 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Increased serum... |
OMIM:620010 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Microvesicular hepatic steatosis, Muscular ventricular septal defect, Dila... |
ORPHA:66634 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Failure to thrive, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphad... |
OMIM:257200 |
Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Nathalie Syndrome |
|
Abnormal EKG, Cataract |
OMIM:255990 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Inguinal hernia, Obesity |
OMIM:300209 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Syndromic X-Linked Intellectual Disability 7 |
|
Obesity |
ORPHA:85274 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Adenocarcinoma Of The Esophagus |
|
Obesity, Lymphadenopathy |
ORPHA:99976 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic non... |
OMIM:603909 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Broad-based gait, Ventricular septal defect, Gait ataxia |
OMIM:620393 |
Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Failure to thrive in infancy, Increased circulating farnesol concentration... |
OMIM:618156 |
Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract, Cardiomyopathy, Endocardial fibroelastosis, Ar... |
ORPHA:2119 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Childhood-onset truncal obesity, Obesity, Increased adipose tissue |
ORPHA:71529 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Developmental cataract, Hypocholesterolemia, Neonatal death, Hypertrophic cardiomyo... |
OMIM:618810 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Obesity |
ORPHA:3055 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Death in infancy, Ventricular septal defect |
OMIM:614876 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... |
OMIM:300635 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Confusion, Myocardial infarction, Splenomegaly, Congestive heart ... |
ORPHA:108 |
Fetal Minoxidil Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Elevated circulating creatinine concentration, Syncope, Or... |
ORPHA:230 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Diffuse a... |
OMIM:616050 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Uveitis, Hepatosplenomegaly, Lymphaden... |
OMIM:615122 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co... |
OMIM:603553 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Abnormality of the musculature of the lower limbs, Ataxia, Unsteady gait, Obesity,... |
ORPHA:464282 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Rafiq Syndrome |
|
Ataxia, Flexion contracture, Obesity, Cutis laxa, Truncal obesity |
OMIM:614202 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Intracranial... |
ORPHA:3226 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Elevated circulating creatine kinase concentration, Confusion, Hyperkalemi... |
ORPHA:466650 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis |
ORPHA:157991 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Pericarditis, Pericardial effusion, Tremor, Abnormal subcutaneous fat tissue distri... |
OMIM:212065 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Potocki-Lupski Syndrome |
|
Small for gestational age, Hypocholesterolemia, Atrial septal defect, Failure to thrive, Patent f... |
OMIM:610883 |
Congenital Myopathy 9A |
|
Death in infancy, EMG: myopathic abnormalities, Obesity, Akinesia |
OMIM:618822 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618261 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
Acute Myelomonocytic Leukemia |
|
Pallor, Weight loss |
ORPHA:517 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... |
ORPHA:545 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... |
ORPHA:64743 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contr... |
OMIM:617591 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... |
ORPHA:824 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ... |
ORPHA:860 |
Baralle-Macken Syndrome |
|
Inability to walk, Obesity, Striae distensae |
OMIM:619255 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Rieger anomaly, Ventricular septal defect, Small for gestational age, Biliary t... |
OMIM:194190 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Ventricular septal defect, Diastasis recti, Large for ges... |
ORPHA:254534 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture |
OMIM:608540 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-rea... |
ORPHA:829 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Abn... |
ORPHA:1414 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Arrhythmia, Gait disturbance, Camptodactyly of finger |
ORPHA:2928 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... |
OMIM:618398 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... |
OMIM:619774 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Tremor... |
OMIM:214500 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618982 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... |
OMIM:150550 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... |
ORPHA:2041 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Developmental c... |
OMIM:616834 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:615524 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Increased circulating NT-proBNP concentr... |
ORPHA:85443 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, He... |
OMIM:278000 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Mulibrey Nanism |
|
Hepatomegaly, Corneal dystrophy, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Ast... |
OMIM:253250 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatosplenomegaly, Lym... |
OMIM:619750 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Decr... |
OMIM:618495 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Dil... |
OMIM:615895 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... |
OMIM:259720 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Hepatomegaly |
OMIM:269840 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyper... |
OMIM:619046 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracra... |
ORPHA:251274 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Ataxia, Facial hypotonia, Flexion contracture, Obesity, Choreoathetosis, Bradykinesia, Shuffling ... |
OMIM:300055 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri... |
OMIM:246700 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly, Abnormality of iron homeostasis |
ORPHA:75563 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Obesity, Abnormal heart morphology |
ORPHA:254525 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Obesity |
OMIM:613670 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, Failure to thrive, Absence of lymph node germinal center, T lymphocytope... |
ORPHA:277 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... |
ORPHA:96180 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Failure to thrive in infancy, Lipodystrophy, Elevated circulating C-reactive protei... |
OMIM:617099 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Progressive neurologic deterioration, Splenomegaly, Depression, Demen... |
OMIM:231000 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Cataract, Ventricular septal defect, Corneal opacity, Splenomegaly, Jaundice, Anemi... |
ORPHA:290 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cachexia, Cardiomegaly, Hyperam... |
ORPHA:42 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Death in childhood |
OMIM:613759 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Ectopia pupillae, Cataract, Sclerocornea |
OMIM:615877 |
Noonan Syndrome 8 |
|
Failure to thrive, Ventricular septal defect, Large for gestational age, Patent ductus arteriosus... |
OMIM:615355 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Cataract, Failure to thrive in infancy, Elevated circulating creat... |
OMIM:610377 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, Pulmonary arteria... |
OMIM:619051 |
Felty Syndrome |
|
Hepatomegaly, Pericarditis, Splenomegaly, Cellulitis, Lymphadenopathy, Anemia, Weight loss, Bone ... |
ORPHA:47612 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... |
OMIM:616276 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Asymmetric septal... |
OMIM:252920 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Obesity |
OMIM:615985 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Anemia,... |
OMIM:618838 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia, Abnormal pupil morphology |
ORPHA:2151 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Broad-based gait, Increased body weight, Macroglossia, Dr... |
OMIM:614450 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
Morbid Obesity And Spermatogenic Failure |
|
Congestive heart failure, Hypertension, Obesity, Myocardial infarction |
OMIM:615703 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Obesity, Mitral valve prolapse |
ORPHA:2233 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Cln3 Disease |
|
Cataract, Vacuolated lymphocytes, Mental deterioration, Depression, T-wave inversion, Dementia, B... |
ORPHA:228346 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Hip contracture, Ventricular septal defect, Eosinophi... |
OMIM:616651 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... |
OMIM:223900 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Corneal opacity, Tremor, Splenomegaly, Flexion contracture, Umbili... |
ORPHA:87876 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... |
ORPHA:45452 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... |
OMIM:180500 |
Alagille Syndrome |
|
Keratoconus, Hepatomegaly, Telangiectasia of the skin, Ventricular septal defect, Corneal dystrop... |
ORPHA:52 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100083 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Chorea, Choreoathetosis, Bradykinesia, Falls, Pallor |
ORPHA:13 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con... |
OMIM:618892 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity, Increased adipose tissue |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity, Increased adipose tissue |
ORPHA:71526 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
Caspase 8 Deficiency |
|
Splenomegaly, Failure to thrive, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
Gray Platelet Syndrome |
|
Splenomegaly, Epistaxis, Thrombocytopenia |
ORPHA:721 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter |
OMIM:616816 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Abnormal EKG, Cataract, Corneal opacity, Inguinal hernia, Abnormal heart morphology... |
ORPHA:93400 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Tachycardia, Eosinophilia,... |
ORPHA:98849 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Splenomegaly, Myocarditis, Jaundice, Hepatitis, Endocarditis, Lymphad... |
ORPHA:549 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Increased hepatocellular lipid droplets, Steatorrhea, Hypoc... |
ORPHA:71 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, Ly... |
OMIM:618048 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Conjunctivitis |
OMIM:240500 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepatocellular carcinoma, Sp... |
ORPHA:465508 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Inguinal hernia, Ventricular septal defect, Ataxia, Unsteady gait... |
OMIM:614947 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, First degree atrioventr... |
OMIM:310300 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Obesity, Mitral valve prolapse |
ORPHA:2183 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Pallor, Decreased body weight, Atrial septal defect, Patent foramen ovale |
OMIM:609053 |
Familial Focal Epilepsy With Variable Foci |
|
Paresthesia, Pallor |
ORPHA:98820 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Short Syndrome |
|
Posterior embryotoxon, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Lipod... |
ORPHA:3163 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H... |
OMIM:266510 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Iris hypopi... |
ORPHA:167 |
Pfapa Syndrome |
|
Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly |
ORPHA:42642 |
Classic Mycosis Fungoides |
|
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly |
ORPHA:2584 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Obesity, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Ar... |
ORPHA:3191 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hyp... |
OMIM:619064 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
Xq27.3Q28 Duplication Syndrome |
|
Truncal obesity, Failure to thrive |
ORPHA:261483 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
Idiopathic Pulmonary Hemosiderosis |
|
Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Pallor, Failure to thrive |
ORPHA:99931 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cir... |
ORPHA:79301 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anisocytosis, Anemia ... |
OMIM:224120 |
Retinitis Pigmentosa 51 |
|
Pallor, Obesity |
OMIM:613464 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Ataxia, Obesity |
ORPHA:411515 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Depression, Emotional lab... |
ORPHA:101096 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity, Gait disturbance |
ORPHA:2429 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia |
ORPHA:75234 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Lipodystrophy, Hypertension, Abdominal obesity, Myopathy, Muscular dystr... |
OMIM:615980 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
Lambert Syndrome |
|
Inguinal hernia, Ventricular septal defect, Failure to thrive in infancy |
ORPHA:1296 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Failure to... |
ORPHA:397596 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Pallor, Positive regiti... |
ORPHA:94080 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Death in infancy, Failure to thrive, Hypoplastic left heart, Obesity |
OMIM:610543 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... |
OMIM:614262 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N... |
OMIM:214900 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Bardet-Biedl Syndrome 16 |
|
Obesity |
OMIM:615993 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... |
OMIM:619658 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Corneal arcus, Joint contracture of the 5th finger, Atrial septal defect, Pancreati... |
OMIM:602782 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
ORPHA:540 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... |
OMIM:314050 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Congenital diaphragmatic hernia, Obesity, Abnormal heart morphology, Choreoathetosi... |
ORPHA:261197 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... |
ORPHA:90068 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Facial hypotonia, First degree atrioventricular block, Patent ductus arterio... |
ORPHA:589821 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Failure to thrive, Reduced natural killer cell count |
OMIM:609981 |
Scrub Typhus |
|
Anterior uveitis, Tremor, Myocarditis, Splenomegaly, Lymphadenopathy, Hypotension |
ORPHA:83317 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Patent foramen ovale, Obesity |
OMIM:618821 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Refsum Disease, Classic |
|
Cataract, Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentratio... |
OMIM:266500 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... |
OMIM:301078 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Sudden cardiac death, Cardiomeg... |
OMIM:201475 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Myocardial infarction, Abn... |
ORPHA:447 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Ventricular septal defect, Elevated circulating... |
OMIM:615673 |
Graft Versus Host Disease |
|
Tachycardia, Fasciitis, Dupuytren contracture, Lipodystrophy, Jaundice, Lymphadenopathy, Hepatosp... |
ORPHA:39812 |
Alpha-1-Antitrypsin Deficiency |
|
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Hiatus hernia, Overweight, Persistence of hemoglobin F, Astigmatism, I... |
OMIM:619769 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Tachycardia, Hypoesthesia, Obesity, Lower limb muscle weakness |
OMIM:619737 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... |
ORPHA:169154 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Mitral regurgitation, Disproportionate tall stature, Abdominal obesity... |
OMIM:301039 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Prolonged QT interval, Cataract, Depression, Irritability, Hyperphosphatemia, Conjunc... |
ORPHA:94089 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Amelogene... |
OMIM:612783 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Thrombocytopenia |
OMIM:610333 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Intracr... |
ORPHA:85212 |
Megalencephaly |
|
Atrial septal defect, Truncal obesity |
ORPHA:2477 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Small for gestational age, Inguinal hernia, Ventricular septal defect |
OMIM:314320 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Congestive heart failure, Broad-based gait, Shuffling gait, Obesity |
ORPHA:3077 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Failure to thrive, Jaundice, Ly... |
ORPHA:276 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity |
ORPHA:140941 |
Congenital Myopathy 8 |
|
Congestive heart failure, Cardiomegaly |
OMIM:618654 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Dystonia, Elevated circulating creatine kinase concentration, Cardiac arrest, Elevated circulatin... |
OMIM:616878 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Increased hepatic glycogen content, Hyperuricemia, Hepatomegaly |
OMIM:261750 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Eosinophilia, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Ataxia, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, ... |
OMIM:249270 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... |
OMIM:194380 |
Evans Syndrome |
|
Epistaxis, Syncope, Pallor, Lethargy, Petechiae |
ORPHA:1959 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Kimura Disease |
|
Lymphadenopathy, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Small for gestational age, Inguinal hernia, Ventricular septal defect |
ORPHA:3369 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnor... |
ORPHA:39041 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... |
OMIM:618935 |
Laurence-Moon Syndrome |
|
Ataxia, Obesity |
ORPHA:2377 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Increased total... |
ORPHA:90037 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Atrial fibrillation, Tremor, Splenomegaly, Congestive heart failure, Jaundice, Kera... |
ORPHA:525731 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Amelogenes... |
ORPHA:169090 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Abnormal cardiovascular system physiology, Lymphadenopathy |
ORPHA:50251 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... |
OMIM:608758 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect, Ataxia, Obesity, Gait imbalance, Dry skin, Striae distensae |
OMIM:619312 |
Dravet Syndrome |
|
Bradykinesia, Progressive gait ataxia, Pallor |
ORPHA:33069 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, Pallor, Failure to t... |
OMIM:600462 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Akinesia, Dilated cardiomyopathy, Arthrogrypo... |
OMIM:607598 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Iris atrophy, Failure to thrive, Cataract, Bicuspid aortic valve, Ventricular septal defect, Abno... |
ORPHA:261552 |
Familial Dysautonomia |
|
Hyponatremia, Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Corneal opaci... |
ORPHA:1764 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Sp... |
ORPHA:79083 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Cardiomyopathy, Abnormal EKG, Cognitive impairment |
ORPHA:1177 |
Laurence-Moon Syndrome |
|
Ataxia, Obesity |
OMIM:245800 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... |
ORPHA:137675 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ... |
OMIM:618987 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:2348 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy, Ge... |
OMIM:619183 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Increased body weight, Weight loss, Anemia, Kays... |
ORPHA:905 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Congenital diaphragmatic hernia, Obesity, Abnormal heart morphology, H... |
ORPHA:94065 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... |
OMIM:617201 |
King-Denborough Syndrome |
|
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom... |
OMIM:619542 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Fa... |
OMIM:612946 |
Mowat-Wilson Syndrome |
|
Cataract, Ventricular septal defect, Abnormal heart morphology, Microcornea, Ectopia pupillae, Pu... |
OMIM:235730 |
Chromosome 2Q37 Deletion Syndrome |
|
Pain insensitivity, Arrhythmia, Obesity, Subvalvular aortic stenosis |
OMIM:600430 |
Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... |
ORPHA:91547 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:49041 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Large for gestational age, Increased body weight, Pallor, Lethargy |
ORPHA:263455 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Athetosis, Ascites, Iris hypopigmentation |
ORPHA:834 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... |
OMIM:619371 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Childhood-onset truncal obesity |
OMIM:610156 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
American Trypanosomiasis |
|
Hepatomegaly, Myocarditis, Splenomegaly, Congestive heart failure, Lymphadenopathy, Cardiomyopath... |
ORPHA:3386 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Elevated circulating creatine kinase concentration, Elevated... |
ORPHA:480864 |
Alg12-Cdg |
|
Hyponatremia, Muscular ventricular septal defect, Biventricular hypertrophy, Camptodactyly, B lym... |
ORPHA:79324 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Keloids, Ventricular septal defect |
ORPHA:357225 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Inability to walk, Flexion contracture, Obesity, Camptodactyly, Art... |
OMIM:615547 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Obesity |
ORPHA:444002 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc... |
OMIM:255160 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Broad-based gait, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Failure to ... |
ORPHA:477817 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Ataxia, Obesity, Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Difficulty walking, I... |
ORPHA:98907 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart failure, Achil... |
OMIM:310200 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Tremor, Splenomegaly, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:616719 |
Dextrocardia |
|
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal heart mor... |
ORPHA:1666 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ventricular septal defect, Ataxia, Overweight, Inability to walk, Obesity, Death in adolescence, ... |
OMIM:619229 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Pericarditis, Gastrointestinal hemorrhage, Myocardial infarction, Cac... |
ORPHA:3452 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Summitt Syndrome |
|
Camptodactyly of finger, Obesity, Tall stature |
ORPHA:3210 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Obesity, Weight loss, Hypertrophic car... |
ORPHA:251071 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
OMIM:615279 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Overweight, Obesity, Mitral regurgitation, Pulmonary arterial hypertension |
OMIM:614651 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Mediastinal lym... |
ORPHA:83469 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Fetal ascites, Pericardial effusion, Thrombocytopenia, Leukocytos... |
ORPHA:292 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Patent duc... |
OMIM:618652 |
Borjeson-Forssman-Lehmann Syndrome |
|
Obesity |
OMIM:301900 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngea... |
ORPHA:94090 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Conjunctivitis, Lymphadenopathy |
OMIM:617772 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Steatorrhea, Ascites, Anemia |
ORPHA:75233 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Hepatosplenomegal... |
OMIM:608013 |
Sézary Syndrome |
|
Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology |
ORPHA:3162 |
Temple Syndrome |
|
Small for gestational age, Overweight, Flexion contracture, Obesity, Truncal obesity |
OMIM:616222 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... |
ORPHA:50918 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Prolonged QT interval, Cataract, Confusion, Obesity, Depression, Irritability, Hyperp... |
ORPHA:79444 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Fasciitis, Elevated circulating C-reactive protein concentration, Splenomegaly, Leu... |
ORPHA:32960 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiac arrest, Cardiomegaly, C... |
OMIM:617713 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cataract, Elevated circulating creatine kinase concentration, Cardiomegaly, Antenat... |
OMIM:608836 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti... |
ORPHA:2686 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
6Q16 Microdeletion Syndrome |
|
Broad-based gait, Obesity |
ORPHA:171829 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
H Syndrome |
|
Hypertriglyceridemia, Lipodystrophy, Microcytic anemia, Abnormal cardiovascular system physiology... |
ORPHA:168569 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating... |
ORPHA:79126 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Right ventricular failure, Reduced circulating transferrin concentrat... |
ORPHA:90363 |
Trisomy 5P |
|
Obesity |
ORPHA:1742 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia |
OMIM:608184 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Dry skin, Obesity |
ORPHA:3085 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Unst... |
ORPHA:329224 |
Yuan-Harel-Lupski Syndrome |
|
Broad-based gait, Ventricular septal defect, Bicuspid aortic valve, Unsteady gait, Gait ataxia, D... |
OMIM:616652 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... |
ORPHA:79456 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Chylopericardium, ... |
ORPHA:2414 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Small for gestational age, Splenomegaly, M... |
OMIM:606003 |
Bardet-Biedl Syndrome 7 |
|
Obesity |
OMIM:615984 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Cardiomegaly, Progressive ps... |
OMIM:268800 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... |
ORPHA:288 |
Granulomatous Slack Skin |
|
Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... |
OMIM:618363 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, Increased... |
ORPHA:90041 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Gait ataxia, Macroglossia, Abdominal obesity, Striae distensae |
OMIM:300354 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Large for gestational age |
OMIM:617119 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hypertension, Cholestasis, Hepatomegaly |
OMIM:105200 |
Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Leukopenia, Abnormality of ... |
ORPHA:1304 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Decreased muscle mass, Unsteady gait, Dysmetria, Truncal obe... |
ORPHA:3041 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Facial hypotonia, Cardiac conduction abnormality, Chorea, Choreoathetosis, Cardiomyopathy... |
ORPHA:2131 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Irritability, Lipogranulomatosis, Failure to thrive |
OMIM:228000 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Uveitis, Lymph... |
ORPHA:36412 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Flexion contracture, Enlarged kidney, Anemi... |
OMIM:617303 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Portal hyperte... |
OMIM:615688 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... |
ORPHA:280365 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Tremor, Splenomegaly, Arrhy... |
ORPHA:99745 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Ventricular septal defect, Ataxia, Inability to walk, Flexion contracture |
ORPHA:79243 |
Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619189 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... |
OMIM:613870 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Obesity |
OMIM:615630 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Obesity, Mitral regurgitation, Atrial septal def... |
ORPHA:254346 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Angina pectoris, Elevated circulating creatine kinase concentration, Splenomegaly, ... |
ORPHA:565612 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Disproportionate tall stature,... |
OMIM:615668 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Camptodactyly of finger, Splenomegaly, Vasculitis, Uveitis, Conjunctivitis, Hernia ... |
ORPHA:575 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Dpagt1-Cdg |
|
Prolonged QT interval, Hepatomegaly, Lipodystrophy, Tremor, Flexion contracture, Developmental ca... |
ORPHA:86309 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... |
OMIM:618901 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618330 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Vasculitis, Decr... |
OMIM:617718 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Cardiac arrest, Dilated cardiomyopathy, Weight loss, Pallor, Hypotension, Lethargy |
ORPHA:20 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Ventricular septal defect, Ataxia, Limb joint contracture, Inability to walk, Decreased body weig... |
ORPHA:505237 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Death in infancy, Ventricular septal defect |
OMIM:613730 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Prolonged QT interval, Cataract, Confusion, Band keratopathy, Obesity, Depression, Ch... |
ORPHA:79443 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... |
ORPHA:79124 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Failure to th... |
OMIM:612714 |
Obesity And Hypopigmentation |
|
Overgrowth, Obesity |
OMIM:620195 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia, Broad-based gait |
OMIM:617450 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Lipoma, Obesity |
ORPHA:480907 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Acquired Methemoglobinemia |
|
Tachycardia, Confusion, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M... |
OMIM:256040 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Depression, Hypokalemia, Syncope, Palpit... |
OMIM:170390 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Failure to thrive, Inguinal hernia, Femoral hernia, Obesity, Conotruncal de... |
ORPHA:96147 |
Bardet-Biedl Syndrome 4 |
|
Obesity |
OMIM:615982 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Ventricular septal defect, Lipodystrophy, Truncal obesity, D... |
OMIM:270450 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Overgrowth, Ventricular septal defect, Hernia |
OMIM:602501 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Elevated circulating creatine concentration, Attention deficit hyperactivi... |
OMIM:300352 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... |
OMIM:614700 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Dry skin, Ataxia, Obesity |
OMIM:620191 |
Ogden Syndrome |
|
Torticollis, Inguinal hernia, Ventricular septal defect, Cutis laxa, Shuffling gait, Cardiogenic ... |
ORPHA:276432 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ... |
OMIM:230800 |
48,Xxyy Syndrome |
|
Inguinal hernia, Ataxia, Abnormal dental enamel morphology, Obesity, Tall stature |
ORPHA:10 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Sh... |
ORPHA:79102 |
Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hyperammonemia |
ORPHA:664 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Left ventricular systolic dysfunction, Ataxia, Dilated cardiomyopathy, M... |
OMIM:619167 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen |
OMIM:223360 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Conjunc... |
ORPHA:99826 |
Morm Syndrome |
|
Truncal obesity |
ORPHA:75858 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Pericarditis, Hepatomegaly, Splenomegaly, Myocardi... |
ORPHA:809 |
Kcnq2-Related Epileptic Encephalopathy |
|
Inability to walk, Pallor, Facial erythema |
ORPHA:439218 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub... |
OMIM:211600 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Ventricular septal defect, Inability to walk, Flexion contracture, Decreased body weight, Atrial ... |
OMIM:617452 |
Nephroblastoma |
|
Weight loss, Lymphadenopathy, Neoplasm of the liver, Hypertension, Aniridia |
ORPHA:654 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-positive he... |
OMIM:304790 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failure, Obesity, Ge... |
ORPHA:98908 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ... |
ORPHA:264580 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
ORPHA:158048 |
Q Fever |
|
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ... |
ORPHA:781 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Leukocytosis, Lymphadenopathy, Anemia, Leuk... |
ORPHA:520 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Umbilical hernia, Patent ductus arteriosus, Obesity |
ORPHA:171839 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Epistaxis, Abnormality of neutrophi... |
ORPHA:33226 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Opacification of the corneal stroma, Dystonia, Um... |
OMIM:251290 |
Mehmo Syndrome |
|
Obesity |
ORPHA:85282 |
Dubowitz Syndrome |
|
Short attention span, Inguinal hernia, Aplastic anemia, Acute lymphoblastic leukemia, Hypoplasia ... |
OMIM:223370 |
Carpenter Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Patent ductus arteriosus, Obesity, Joint contracture of t... |
OMIM:201000 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten... |
OMIM:179613 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hyperammonemia, Choreoathetosis, Dystonia, Hypertrophic cardiomyopathy |
ORPHA:391428 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Bradyca... |
ORPHA:330001 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Athetosis, Methemoglobinemia, Limb dystonia |
ORPHA:621 |
Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Obesity, Hypotension |
ORPHA:369873 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation |
ORPHA:54 |
Sandhoff Disease, Infantile Form |
|
Mitral regurgitation, Mitral valve prolapse, Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... |
OMIM:619463 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Chorioretinal dysplasia, Abnormal pupil morphology, Lentiglobus, Hyponatremia, Abn... |
ORPHA:534 |
Stiff-Person Syndrome |
|
Tachycardia, Exaggerated startle response, Opisthotonus, Depression, Hypertension, Anemia |
OMIM:184850 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:261243 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Skraban-Deardorff Syndrome |
|
Broad-based gait, Ventricular septal defect, Spastic gait |
OMIM:617616 |
Chung-Jansen Syndrome |
|
Obesity |
OMIM:617991 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect, Ataxia, Gait ataxia, Skeletal muscle hypertrophy, Decreased body weigh... |
OMIM:617164 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Small for gestational age, Increased body mass index, Gait disturbance, Truncal obesity |
OMIM:300957 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
Retinitis Pigmentosa |
|
Atypical scarring of skin, Obesity |
ORPHA:791 |
13Q12.3 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Impaired pain sensation, Obesity, Camptodactyly, Failure to thrive |
ORPHA:412035 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... |
OMIM:601847 |
Serotonin Syndrome |
|
Tachycardia, Confusion, Tremor, Hypertension, Irritability, Hypotension, Mental deterioration, De... |
ORPHA:43116 |
Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Flexion contracture, Tortuosity... |
OMIM:230000 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Right bundle bran... |
ORPHA:268 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Follicular hyperplasia,... |
OMIM:615934 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative... |
ORPHA:3261 |
Rett Syndrome |
|
Cachexia, Dystonia, Abnormal T-wave, Motor deterioration, Prolonged QTc interval |
OMIM:312750 |
Filippi Syndrome |
|
Ventricular septal defect, Decreased body weight |
OMIM:272440 |
Revesz Syndrome |
|
Aplastic anemia, Progressive neurologic deterioration, Leukocoria, Bone marrow hypocellularity, M... |
OMIM:268130 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:1166 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil... |
ORPHA:3260 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Weight loss, Lymphadenopathy, Hernia, Ascites |
ORPHA:26790 |
Adams-Oliver Syndrome 5 |
|
Inguinal hernia, Hypersplenism, Splenomegaly, Portal vein thrombosis, Umbilical hernia, Pulmonic ... |
OMIM:616028 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity |
ORPHA:238624 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Cardiomegaly |
OMIM:613576 |
Meacham Syndrome |
|
Death in infancy, Diaphragmatic eventration, Bicuspid aortic valve, Ventricular septal defect, De... |
OMIM:608978 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity |
ORPHA:352530 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Sca... |
ORPHA:59303 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Leukopenia, Thrombocytopenia |
ORPHA:83313 |
Immunodeficiency 61 |
|
Obesity |
OMIM:300310 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect, Supravalvular aortic stenosis |
OMIM:618624 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Ataxia, Abnormal heart morphology, Total anomalous pulmonary venous re... |
ORPHA:261183 |
Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
Mucopolysaccharidosis Type 6 |
|
Abnormal heart valve morphology, Splenomegaly, Cognitive impairment, Opacification of the corneal... |
ORPHA:583 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hyperbilirubinemia, Steatorrhea, ... |
OMIM:235555 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Confusion, Congestive heart failu... |
ORPHA:31826 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v... |
ORPHA:70591 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Cor pulmonale, T lymphocytopenia, Lymph node hyp... |
OMIM:300755 |
Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Hypokalemia, Increased circulating renin level, P... |
OMIM:263800 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Broad-based gait, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Small for gestational age, Elevated circulating C-reactive protein con... |
ORPHA:90051 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Cardiac arrest, Myocarditis, Hepatitis, Lymphadenopathy, Weight loss, Lymphocytosis |
ORPHA:139402 |
White-Sutton Syndrome |
|
Waddling gait, Facial hypotonia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Obesi... |
OMIM:616364 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Patent ductus arteriosus, Death in childhood, Umbilical hernia, Hypert... |
OMIM:612938 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Failure to thriv... |
OMIM:619418 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Weight loss, Hypertension, Pallor, Hypotension |
ORPHA:134 |
Biemond Syndrome Type 2 |
|
Obesity |
ORPHA:141333 |
Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Ataxia, Obesity |
OMIM:616267 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Pericardial effusion, Anemia, Leukopenia... |
ORPHA:77259 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Gait imbalance, Obesity |
ORPHA:411511 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Small for gestational age, Atrial septal defect, Failure to thrive, Pa... |
OMIM:614261 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Raynaud phenomenon, Lymphadenopathy, Leukopenia, Ascites, Microangiopathic ... |
ORPHA:93552 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Ataxia, Overweight, Inability to walk, Obesity, Generalized limb muscle ... |
ORPHA:2822 |
Costello Syndrome |
|
Ventricular septal defect, Failure to thrive in infancy, Redundant skin, Abnormal dental enamel m... |
ORPHA:3071 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Perimembranous ventricular septal defect,... |
OMIM:606812 |
Phacoanaphylactic Uveitis |
|
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Hyphema, Abnormal corneal endot... |
ORPHA:209959 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated circulating creatine kinase concen... |
OMIM:614921 |
Clark-Baraitser Syndrome |
|
Obesity |
OMIM:617752 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen |
ORPHA:94059 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp... |
ORPHA:514 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Atelis Syndrome 1 |
|
Atrial septal defect, Dry skin, Ventricular septal defect |
OMIM:620184 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... |
OMIM:611881 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Obesity, Facial erythema, Hypertension, Abdominal obesity, Ecchymosis, S... |
OMIM:219090 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Hem... |
OMIM:613812 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Death in infancy, Ventricular septal defect, Arthrogryposis multiplex congenita, Failure to thriv... |
OMIM:613404 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Ataxia, Obesity, Tall stature |
OMIM:618430 |
Pituitary Apoplexy |
|
Hyponatremia, Confusion, Hypertension, Normochromic anemia, Increased circulating cortisol level,... |
ORPHA:95613 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Hyphema, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anteri... |
OMIM:221900 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Vasculitis in the skin, Anemia, Hepatomegaly |
OMIM:620296 |
Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Cerebral hemorrhage, Hepatosplenomegaly, Chorioretinitis, Panuveitis, Panniculi... |
OMIM:301081 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Atrial septal defect, Atrioventricular can... |
OMIM:619573 |
Leptin Deficiency Or Dysfunction |
|
Obesity |
OMIM:614962 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Hepatomegaly, Bundle branch block, Inguinal hernia, Ventricular septal def... |
ORPHA:373 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Tremor, Splenomegaly, ... |
OMIM:615512 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi... |
OMIM:616589 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Hypocalcemia, ... |
OMIM:619991 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries |
OMIM:231060 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Ventricular septal defect, Small for gestational age, Atrial septal defect, Art... |
OMIM:208085 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:618107 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Ventricular septal defect, Ataxia, Camptodactyly of finger, Congestive heart fai... |
ORPHA:354 |
Kaufman Oculocerebrofacial Syndrome |
|
Ventricular septal defect, Microcornea, Astigmatism, Hypocholesterolemia, Atrial septal defect, F... |
OMIM:244450 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Ataxia, Abnormal heart morphology, Macroglossia, Arthrogryposis-like h... |
ORPHA:369891 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Chorea, Gait ataxia, Arthrogryposis multiplex congenita, Patent forame... |
OMIM:614961 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Lower limb hypertonia, Umbilical hernia, Failure to thrive, Foot dorsi... |
OMIM:169400 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity |
ORPHA:329249 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ... |
OMIM:608885 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Portal hyp... |
OMIM:251880 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Action tremor, ... |
ORPHA:309854 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Inguinal hernia, Ataxia, Dilated cardiomyopathy, Dysmetria, Truncal obesity, Dy... |
OMIM:616541 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Essential Thrombocythemia |
|
Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal platelet morphology, Acu... |
ORPHA:3318 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Fasciitis, Elevated circulating creatine kinase concentration, Confusion, Abs... |
ORPHA:36234 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Ventricular septal defect, Patent ductus arteriosus, Dry skin, Atrial septal de... |
OMIM:614576 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Imbalanced hemoglobin synthes... |
ORPHA:330015 |
Carcinoid Syndrome |
|
Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Heart ... |
ORPHA:100093 |
Bardet-Biedl Syndrome 21 |
|
Overweight, Obesity |
OMIM:617406 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Pallor, Positive regiti... |
ORPHA:276621 |
Nephronophthisis 11 |
|
Anisocoria, Hepatic fibrosis, Anemia |
OMIM:613550 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Angelman Syndrome |
|
Broad-based gait, Ataxia, Obesity, Macroglossia, Progressive gait ataxia |
OMIM:105830 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Mitral regurgitatio... |
OMIM:603387 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Cataract, Ventricular septal defect, Splenomegaly, Hypertension, Cholestatic liver ... |
OMIM:270400 |
Wilson-Turner Syndrome |
|
Truncal obesity |
ORPHA:3459 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Chronic noninfec... |
ORPHA:100075 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Chronic noninfec... |
ORPHA:100080 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hepatocellular carcinoma, Tremor, Hand tremor,... |
OMIM:277900 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
Prune Belly Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Aplasia of the abdomina... |
ORPHA:2970 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Dilatation of the ventricular ... |
OMIM:615745 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Corneal opacity, Camptodactyly of finger, Sp... |
OMIM:607015 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cataract, Cardiomegaly |
ORPHA:3137 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Mitral regurgitation, Overgrowth, Atrial sept... |
OMIM:615879 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Bdv Syndrome |
|
Atrial septal defect, Obesity |
OMIM:619326 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Failure to thrive, Pallor |
ORPHA:90045 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Uveitis, Pulmonary arterial hypertension |
OMIM:612387 |
Aase-Smith Syndrome I |
|
Death in infancy, Flexion contracture, Ventricular septal defect |
OMIM:147800 |
Duane Retraction Syndrome |
|
Central heterochromia, Abnormal pupil morphology, Blepharospasm, Microcornea, Hypoplastic iris st... |
ORPHA:233 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Tremor, Splenomegaly, Irritability, Decreased serum zinc, Emotional lability, Failu... |
OMIM:201100 |
Scimitar Syndrome |
|
Heart block, Hypoplasia of the diaphragm, Hernia, Atrial septal defect, Single ventricle, Patent ... |
ORPHA:185 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenop... |
ORPHA:91138 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Telangiectasia of the skin, Leukocytosis, Acute leukemia, Lymphadenop... |
ORPHA:99812 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... |
OMIM:121050 |
Carpenter Syndrome |
|
Umbilical hernia, Patent ductus arteriosus, Obesity |
ORPHA:65759 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
Uveal Melanoma |
|
Iris melanoma, Inferior lens subluxation, Vitreous hemorrhage, Zonular cataract, Ciliary body mel... |
ORPHA:39044 |
De Barsy Syndrome |
|
Decreased muscle mass, Inguinal hernia, Ventricular septal defect, Lipodystrophy, Patent ductus a... |
ORPHA:2962 |
Right Atrial Isomerism |
|
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Situs inversus ... |
OMIM:208530 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Chronic noninfec... |
ORPHA:97287 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Jaundice, Chron... |
ORPHA:90033 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Generalized lymphadenopathy, Pericardial effusion, ... |
OMIM:615846 |
Infant Botulism |
|
Hyponatremia, Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Mydriasis |
ORPHA:178478 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Obesity |
ORPHA:177910 |
Man1B1-Cdg |
|
Truncal obesity, Broad-based gait, Cutis laxa |
ORPHA:397941 |
Primary Familial Polycythemia |
|
Epistaxis, Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,... |
ORPHA:37042 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Extrahepatic cholestasis, Lymp... |
ORPHA:100078 |
Temple Syndrome |
|
Small for gestational age, Obesity |
ORPHA:254516 |
Poems Syndrome |
|
Lipodystrophy, Pericardial effusion, Lymphadenopathy, Weight loss, Pulmonary arterial hypertensio... |
ORPHA:2905 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Obesity |
OMIM:600151 |
Desbuquois Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... |
ORPHA:1425 |
Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Congenital contracture... |
OMIM:613150 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pericardial effusion, Splenomegaly, Pancreatic cysts, Abnormality... |
ORPHA:464329 |
Adiposis Dolorosa |
|
Dry skin, Telangiectasia of the skin, Obesity, Paresthesia |
ORPHA:36397 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
Farber Disease |
|
Failure to thrive, Intrahepatic cholestasis with episodic jaundice, Corneal opacity, Flexion cont... |
ORPHA:333 |
Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, ... |
ORPHA:845 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Obesity |
ORPHA:397973 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Elbow flexion contracture, ... |
OMIM:618440 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Splenomegaly, Congestive heart fa... |
OMIM:230500 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Weig... |
ORPHA:29073 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Spider hemangioma, Splen... |
ORPHA:2137 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Obesity, Lower limb hypertonia, Tip-toe gait, Spastic gait, Limb hypertonia |
OMIM:617296 |
3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Ventricular septal defect, Obesity |
ORPHA:251038 |
Bardet-Biedl Syndrome 1 |
|
Ataxia, Obesity, Hypertension, Truncal obesity, Abdominal obesity, Gait imbalance, Left ventricul... |
OMIM:209900 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactiv... |
OMIM:612852 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation |
OMIM:618042 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity |
OMIM:300238 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Decreased circulating... |
OMIM:300972 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Obesity, Tall stature |
OMIM:618089 |
Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
Fucosidosis |
|
Hepatomegaly, Corneal opacity, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, Failure... |
ORPHA:349 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... |
OMIM:613027 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Small for gestational ag... |
OMIM:260400 |
Shox-Related Short Stature |
|
Skeletal muscle hypertrophy, Obesity |
ORPHA:314795 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia, Obesity |
OMIM:615994 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... |
ORPHA:699 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:500159 |
Hurler Syndrome |
|
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Corneal opacity, Progressive neurologic dete... |
OMIM:607014 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Vascul... |
ORPHA:1572 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Prolonged neonatal jaundice, D... |
OMIM:257220 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple... |
OMIM:222700 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Cellulitis, Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Majeed Syndrome |
|
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Flexion contra... |
ORPHA:77297 |
Plague |
|
Hepatomegaly, Tachycardia, Mydriasis, Hematemesis, Splenomegaly, Lymphadenitis, Endocarditis, Enl... |
ORPHA:707 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
African Trypanosomiasis |
|
Tremor, Choreoathetosis, Conjunctivitis, Iritis, Delirium, Hepatomegaly, Abnormal EKG, Hepatosple... |
ORPHA:3385 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Progressive neurologic deterioration, C... |
ORPHA:581 |
Suleiman-El-Hattab Syndrome |
|
Inguinal hernia, Ventricular septal defect, Atrial septal defect, Failure to thrive, Patent foram... |
OMIM:618950 |
14Q11.2 Microduplication Syndrome |
|
Obesity |
ORPHA:261229 |
Microtriplication 11Q24.1 |
|
Obesity |
ORPHA:289522 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Perrault Syndrome 4 |
|
Disproportionate tall stature, Obesity, Gait ataxia |
OMIM:615300 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Chronic noninfec... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Chronic noninfec... |
ORPHA:100082 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Asymmetric septal hypertrophy, Umbilical hernia |
OMIM:252900 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Hernia, Motor deterioration |
OMIM:252930 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Splenomegaly, Ocular albinism, Neutropenia, Dystonia |
OMIM:617050 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Flexion contracture, Attention deficit hyperactivity disorder, Camptodacty... |
OMIM:620029 |
Emanuel Syndrome |
|
Torticollis, Inguinal hernia, Ventricular septal defect, Truncus arteriosus, Congenital diaphragm... |
OMIM:609029 |
Cantu Syndrome |
|
Bicuspid aortic valve, Large for gestational age, Pericardial effusion, Cardiomegaly, Congenital ... |
OMIM:239850 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
ORPHA:79240 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... |
OMIM:220210 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Donnai-Barrow Syndrome |
|
Omphalocele, Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:2143 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Cataract, Confusion, Myocardial ... |
ORPHA:117 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, First degree atrioventricular block, Conjunctival hyperemia, Jaundice... |
ORPHA:509 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Aplasia of the pectoralis major muscle, Obesi... |
ORPHA:3138 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Increased serum beta-hexosaminidase, Cardiom... |
OMIM:252500 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... |
ORPHA:392 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Chromosome 18Q Deletion Syndrome |
|
Broad-based gait, Inguinal hernia, Absence of the pulmonary valve, Ventricular septal defect, Fai... |
OMIM:601808 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Death in childhood |
OMIM:246450 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Ventricular septal defect |
ORPHA:93267 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Atrial flutter, Overriding aorta, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:601927 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart |
OMIM:618142 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Obesity |
OMIM:612463 |
Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Small for gestational age, Ventricular septal defect |
OMIM:617635 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus... |
ORPHA:555874 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:263630 |
Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Obesity, Macroglossia, Hernia, Arrhythmia, Tetr... |
ORPHA:261494 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ataxia, Ventricular septal defect, Patent ductus arteriosus, Knee flexio... |
ORPHA:435638 |
Poikiloderma With Neutropenia |
|
Elevated circulating creatine kinase concentration, Splenomegaly, Telangiectasia, Leukopenia, Con... |
OMIM:604173 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Flexion contracture of toe, Obesity |
ORPHA:3409 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Cataract, Elevated circulating creatine kinase concentration, Dilat... |
OMIM:253800 |
Smith-Magenis Syndrome |
|
Gait disturbance, Obesity, Failure to thrive in infancy, Impaired pain sensation |
ORPHA:819 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Wagr Syndrome |
|
Obesity |
ORPHA:893 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Increased T cell count, Failure to thrive, Absent peripheral lymph nodes in presence of infection... |
ORPHA:98813 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology |
ORPHA:401935 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Ataxia, Gait imbalance, Obesity |
ORPHA:98794 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipidemia, Xanthe... |
OMIM:232220 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Lipoatrophy, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Ray... |
ORPHA:51 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Neutrophilia, Confusion, Elevated circulating C-reactive protein concentration, Leukocytos... |
ORPHA:36238 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity |
OMIM:615633 |
Monosomy 13Q34 |
|
Epistaxis, Obesity, Hematochezia, Pulmonic stenosis, Common atrium |
ORPHA:96168 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Clark-Baraitser syndrome |
|
Obesity, Tall stature |
OMIM:300602 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Confusion, Cardiomegaly, Tremor, Cardiomyopathy, Dementia, Orthostatic hypotension due to autonom... |
OMIM:105210 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia o... |
OMIM:617022 |
Double Outlet Right Ventricle |
|
Tachycardia, Failure to thrive, Ventricular septal defect, Double outlet right ventricle, Heart m... |
ORPHA:3426 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Failure to thrive, Thrombocytopenia |
OMIM:259700 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial ... |
OMIM:618316 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridging fibrosis, Hep... |
OMIM:618641 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Inability to walk, Unsteady gait, Ataxia, Obesity |
OMIM:618443 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Ataxia, Unstea... |
ORPHA:457279 |
Oculoauriculofrontonasal Syndrome |
|
Pericallosal lipoma, Ventricular septal defect |
ORPHA:398156 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Failure to thrive, Ventricular septal defect, Small for gesta... |
OMIM:222470 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Atkin-Flaitz Syndrome |
|
Obesity |
ORPHA:1193 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Inability to walk, Unsteady gait, Elbow flexion contracture, Obesity |
OMIM:618493 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Obesity |
ORPHA:254531 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Dystonia, Atrial septal defect, Left ventricular ... |
ORPHA:79330 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Bicuspid aortic valve, Ventricular septal de... |
ORPHA:84064 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Flexion contracture, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Weight loss, En... |
ORPHA:85408 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Inability to walk, Abnormal heart morphology, Atrial septal defect, Pa... |
OMIM:618494 |
Trichinellosis |
|
Confusion, Retinal hemorrhage, Anisocoria, Irritability, Conjunctivitis, Abnormal uvea morphology... |
ORPHA:863 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Atrial septal defect, Intrahepatic biliary dysgenesis, Hepatomegal... |
OMIM:614866 |
Esophageal Atresia |
|
Omphalocele, Small for gestational age, Ventricular septal defect, Failure to thrive in infancy, ... |
ORPHA:1199 |
Down Syndrome |
|
Impaired pain sensation, Obesity, Macroglossia, Gait disturbance, Umbilical hernia |
ORPHA:870 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Inguinal hernia, Ventricular septal defect, Hypomimic face |
OMIM:608572 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Broad-based gait, Ventricular septal defect, Ataxia, Choreoathetosis, Difficulty walking, Atrial ... |
OMIM:610978 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity |
OMIM:619854 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Lymphadenopathy, Hypotension, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... |
OMIM:616005 |
Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Leukopenia, Hemolytic anem... |
ORPHA:797 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Chronic myelogenous leukemia, We... |
ORPHA:71493 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Ne... |
ORPHA:171 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Lymphadenopathy, Hypertens... |
ORPHA:139411 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Hiatus hernia, Panc... |
OMIM:610199 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss |
ORPHA:33276 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteri... |
ORPHA:96121 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Small for gestational age, Contractures of the large joints, Ventricular septal defect |
ORPHA:3078 |
Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Truncal obesity, Small for gestational age, Obesity |
ORPHA:96184 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Conjunctivitis, Neutropenia |
ORPHA:293173 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Ventricular septal defect, Cardiomegaly, Flexion contracture, Hypertro... |
OMIM:616897 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Chops Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Obesity, Anomalous pulmonary venous return, ... |
OMIM:616368 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis |
ORPHA:139466 |
Hurler Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Angina pectoris, Abnormality of the tonsils, Corne... |
ORPHA:93473 |
Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Flexion contracture, Ventricular septal defect, Anemic pallor |
OMIM:227645 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Failure to thrive, Pallor, Weight loss |
ORPHA:35858 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Diastasis recti, Patent ductus arteriosu... |
OMIM:608149 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Pallor, Positive regiti... |
ORPHA:29072 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve |
OMIM:617751 |
Emanuel Syndrome |
|
Inguinal hernia, Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Cong... |
ORPHA:96170 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic cysts, Portal hypertension, Malformation of the hepati... |
OMIM:208540 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Obesity |
OMIM:615986 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mi... |
OMIM:620233 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Obesity |
ORPHA:2234 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Leukocytosis, Vasculitis, Congestive ... |
ORPHA:2331 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Kapur-Toriello Syndrome |
|
Failure to thrive, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Patent ... |
ORPHA:3427 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Limb hypertonia |
OMIM:619909 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Small for gestational age, Portal hypertension, Conjugated hyperbilirubinemia, Sple... |
ORPHA:567983 |
Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Miscarriage, Obesity, Low pulse pressure |
ORPHA:86816 |
Xp22.13P22.2 Duplication Syndrome |
|
Truncal obesity, Umbilical hernia, Congenital diaphragmatic hernia |
ORPHA:284180 |
3C Syndrome |
|
Death in infancy, Inguinal hernia, Ventricular septal defect, Abnormal mitral valve morphology, A... |
ORPHA:7 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Camptodactyly |
OMIM:614815 |
Myhre Syndrome |
|
Ventricular septal defect, Ataxia, Small for gestational age, Pericardial effusion, Patent ductus... |
OMIM:139210 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Weight loss, Lymphadenopathy |
ORPHA:411703 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo... |
OMIM:269700 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Small for gestational age, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Ataxia, Chorea, Choreoathetosis, Abnormal cardiac septum morphology, F... |
ORPHA:209905 |
Scheie Syndrome |
|
Aortic regurgitation, Splenomegaly, Corneal opacity, Hepatomegaly |
ORPHA:93474 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity |
OMIM:613192 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Inguinal hernia, Camptodactyly of finger, Cachexia, Obesity |
ORPHA:85293 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Flexion contracture, Failure to thrive, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e... |
OMIM:618775 |
Macrocephaly/Autism Syndrome |
|
Overgrowth, Obesity, Cutis laxa, Large for gestational age |
OMIM:605309 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Gastrointestinal hemorrhage, Failure to thrive, Elevated circulat... |
OMIM:276700 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Waddling gait, Obesity |
ORPHA:174 |
Scalp-Ear-Nipple Syndrome |
|
Cataract, Cardiac myxoma, Congestive heart failure, Developmental cataract, Anisocoria, Hypertens... |
OMIM:181270 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect |
ORPHA:2345 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteri... |
OMIM:601186 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Prolonged neonatal j... |
OMIM:607625 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Diabetic Embryopathy |
|
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Transposition of... |
ORPHA:1926 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Failure to thrive, Cataract, Persistent pupillary membrane |
OMIM:257850 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Splenomegaly, Spherocytosis, Mitral valve prolapse, Microcornea, Atrial septal ... |
ORPHA:251066 |
Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy |
OMIM:260920 |
Cornelia De Lange Syndrome 5 |
|
Truncal obesity |
OMIM:300882 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Ventricular septal defect, Camptodactyly |
OMIM:113000 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Tremor, Splenomegaly, Lymphadenopathy, Hypocal... |
ORPHA:667 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor |
ORPHA:90036 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Abdominal obesity, Small for gestational age |
OMIM:300869 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect |
OMIM:620210 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard... |
ORPHA:77261 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... |
ORPHA:99125 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal... |
ORPHA:355 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Myocardial infarction, Hypertension, Abdominal obesity, Truncal obesity, Coronary artery stenosis |
OMIM:615812 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Obesity |
ORPHA:464288 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Fasciitis, Autoimmune thrombocytopenia, Raynaud phe... |
ORPHA:331235 |
19Q13.11 Microdeletion Syndrome |
|
Dry skin, Failure to thrive, Ventricular septal defect, Cachexia |
ORPHA:217346 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal circulating phytanic acid concentration, Mydriasis |
ORPHA:247815 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hernia |
ORPHA:3306 |
Cooper-Jabs Syndrome |
|
Umbilical hernia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he... |
ORPHA:1488 |
Meige Disease |
|
Atypical scarring of skin, Lymph node hypoplasia, Cellulitis, Absence of lymph node germinal center |
ORPHA:90186 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonit... |
ORPHA:131 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Failure to thrive, Anemia |
OMIM:239200 |
X-Linked Intellectual Disability, Stevenson Type |
|
Obesity, Tall stature |
ORPHA:85325 |
Cohen Syndrome |
|
Small for gestational age, Facial hypotonia, Childhood-onset truncal obesity, Mitral valve prolapse |
OMIM:216550 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
Joubert Syndrome 8 |
|
Ataxia, Obesity |
OMIM:612291 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Cardiomegaly, Abnormal thymus morphology, Loss of truncal subcutaneous adipose... |
ORPHA:2463 |
Verheij Syndrome |
|
Small for gestational age, Truncus arteriosus, Ventricular septal defect |
OMIM:615583 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... |
ORPHA:86843 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
ORPHA:2516 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Posterior uveitis, Anemia |
ORPHA:52417 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Obesity, Heart murmur, Anisocoria, Patent foramen ovale |
OMIM:618653 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy... |
OMIM:616084 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Kleefstra Syndrome 1 |
|
Macroglossia, Obesity, Conotruncal defect |
OMIM:610253 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Obesity |
ORPHA:2180 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Elevated circulating creatine kinase concentration, Card... |
ORPHA:365 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Ocular albin... |
OMIM:608233 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Redundant neck skin, Ventricular septal defect, Small for gestational age, Abnormal left ventricu... |
OMIM:301056 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
ORPHA:293964 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Beck-Fahrner Syndrome |
|
Depression, Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly |
OMIM:618798 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Decreased muscle mass, Scapular winging, Ventricular septal ... |
OMIM:615582 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Charcot-Marie-Tooth Disease Type 1E |
|
Anisocoria, Abnormal pupil morphology, Joint contracture of the hand |
ORPHA:90658 |
Pierson Syndrome |
|
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Retinal hemorrhage, Hy... |
OMIM:609049 |
Sheehan Syndrome |
|
Orthostatic hypotension, Obesity, Palpitations, Bradycardia, Pallor, Dry skin |
ORPHA:91355 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Congestive heart failure, Depression, Cardiomyopathy, Increased hepatic glycogen co... |
OMIM:619259 |
Desbuquois Dysplasia 1 |
|
Waddling gait, Obesity |
OMIM:251450 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria, Decreased circulating cortisol level, Orthostatic hypotension |
OMIM:231550 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, A... |
OMIM:618870 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Obesity |
OMIM:619056 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Hypertension, Striae distensae, Truncal obesity, Skeletal muscle atrophy |
OMIM:219080 |
Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Erythema, Pallor, Death in childhood, Lethargy, Failure to thrive |
OMIM:557000 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impaired temperature sensation, Flexion contracture, Increased body weight, Abdominal obesity, At... |
ORPHA:398069 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Abnormal odontoid tissue morpho... |
ORPHA:79255 |
Retinoblastoma |
|
Hypopyon, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocoria, Uveitis, Vitreous hemorr... |
ORPHA:790 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Wolff-Parkinson-White syndrome, Broad-based gait, Obesity, Mitral valve prolapse, Macroglossia, F... |
ORPHA:369950 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... |
ORPHA:83471 |
Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Anemic pallor, Abnormal heart morphology |
OMIM:600901 |
Wound Botulism |
|
Cardiac arrest, Mydriasis |
ORPHA:178475 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
Cohen Syndrome |
|
Ventricular septal defect, Obesity, Failure to thrive in infancy, Mitral valve prolapse |
ORPHA:193 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Cataract, Limb joint contracture, Tremor, Atrial septal defect, Pat... |
OMIM:620327 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin, Prolonged ne... |
ORPHA:423479 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Obesity |
OMIM:301013 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Abnormal heart valve... |
ORPHA:77293 |
Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Aortic valve prolapse, Ventricular septal defect, Camptodactyly |
OMIM:619980 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Small for gestational age, Patent ductus arteriosus, Coronary artery f... |
OMIM:620024 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Inguinal hernia, Bicuspid aortic valve, Transient ischemic attack, Subarach... |
ORPHA:91387 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Large for gestational age, Pulmonic stenosis, Atrial septal defect, Hy... |
OMIM:610733 |
White-Sutton Syndrome |
|
Ventral hernia, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia, Obesity, Abno... |
ORPHA:468678 |
Seckel Syndrome 9 |
|
Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Small for gesta... |
OMIM:616777 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Death in infancy, Ventricular septal defect, Death in childhood |
OMIM:616901 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... |
ORPHA:217093 |
Cardiac Valvular Dysplasia 1 |
|
Inguinal hernia, Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tri... |
OMIM:212093 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis, Conjunc... |
OMIM:142680 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Ventricular septal defect |
OMIM:601357 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Inguinal hernia, Cong... |
OMIM:600001 |
Coccidioidomycosis |
|
Pericarditis, Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphadenopathy, Vasc... |
ORPHA:228123 |
Superficial Siderosis |
|
Subarachnoid hemorrhage, Anisocoria, Dementia, Cognitive impairment, Memory impairment, Internal ... |
ORPHA:247245 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectas... |
ORPHA:1655 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypert... |
ORPHA:231625 |
Blau Syndrome |
|
Pericarditis, Cataract, Camptodactyly of finger, Keratitis, Splenomegaly, Iridocyclitis, Large ve... |
ORPHA:90340 |
Morgagni-Stewart-Morel Syndrome |
|
Hypertension, Obesity |
ORPHA:77296 |
X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Inguinal hernia, Abnormal atrioventricular valve physiolog... |
ORPHA:576 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Atrial septal defect, Truncal obesity, Patent ductus arteriosus, Dry skin |
ORPHA:2637 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissue, Abnormal ... |
ORPHA:79277 |
Fanconi Anemia, Complementation Group A |
|
Small for gestational age, Anemic pallor, Abnormal heart morphology |
OMIM:227650 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Ventricular septal defect, Impaired pain sensation, Patent ductus arteriosus, U... |
OMIM:606232 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Redundant neck skin, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, P... |
ORPHA:2519 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Corneal op... |
ORPHA:217085 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Obesity |
OMIM:614613 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Epistaxis, Abnormal number of alpha granules |
OMIM:139090 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
Bardet-Biedl Syndrome |
|
Hypertension, Obesity, Skeletal muscle atrophy |
ORPHA:110 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Leukocoria, Telangiectasia |
OMIM:219250 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peritonitis, Vasculitis, Lymphadenopathy |
ORPHA:343 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Failure to thrive in infancy, Truncal obesity, Pulmonic stenosis, Emotiona... |
ORPHA:529962 |
C Syndrome |
|
Omphalocele, Ventricular septal defect, Patent ductus arteriosus, Cutis laxa, Failure to thrive |
OMIM:211750 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Short attention span, Inguinal hernia, Abnormal heart valve morphology, Abnormal pu... |
ORPHA:580 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity |
OMIM:618160 |
Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thromb... |
OMIM:153670 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration,... |
ORPHA:116 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Weight loss, Panniculitis, Hepatomegaly |
ORPHA:33577 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Obesity, Aortic regurgitation |
OMIM:620072 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal... |
OMIM:620306 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Gait imbalance, Atrial septal defect, Tetral... |
OMIM:617159 |
Botulism |
|
Arrhythmia, Mydriasis |
ORPHA:1267 |
Joubert Syndrome 37 |
|
Obesity |
OMIM:619185 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:379 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Overgrowth, Obesity |
OMIM:620250 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:2256 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Corneal scarring, Atypical scarring of sk... |
OMIM:263700 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Xq21 Microdeletion Syndrome |
|
Ataxia, Obesity, Gait ataxia, Upper limb muscle weakness, Hypertension, Dysdiadochokinesis, Abnor... |
ORPHA:1435 |
Sotos Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Increase... |
OMIM:117550 |
Tyshchenko Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Failure to thrive, Pallor |
ORPHA:331206 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Failure to thrive, Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Pate... |
ORPHA:99050 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Lymphadenopathy |
ORPHA:2221 |
Degcags Syndrome |
|
Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Small for gestational age, Hia... |
OMIM:619488 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Pain insensitivity, Ventricular septal defect, Patent ductus arteriosus, Atrial... |
OMIM:617061 |
Pde4D Haploinsufficiency Syndrome |
|
Abnormal dental enamel morphology, Obesity, Hypotension |
ORPHA:439822 |
Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Hypercalcemia, Pancreatic islet cell adenoma, Neoplasm of ... |
ORPHA:97289 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Redundant neck skin, Ventricular septal defect, Patent ductus arteriosus, Unsteady gait, Macroglo... |
OMIM:214100 |
Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Foodborne Botulism |
|
Arrhythmia, Mydriasis |
ORPHA:228371 |
Angelman Syndrome |
|
Inability to walk, Broad-based gait, Ataxia, Obesity |
ORPHA:72 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Umbili... |
OMIM:612582 |
Silver-Russell Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Inguinal hernia, Ventricular septal defect |
ORPHA:261190 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo... |
OMIM:608594 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Congenital Fibrosis Of Extraocular Muscles |
|
Anisocoria, Torticollis, Abnormal pupil shape, Cataract |
ORPHA:45358 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... |
OMIM:619381 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Obesity |
OMIM:610628 |
48,Xxxy Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Pulmonary embolism, Obesity, Tall stature |
ORPHA:96263 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:363741 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity |
OMIM:601794 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Inability to walk, Patent ductus arteriosus, Macroglo... |
OMIM:613457 |
Isolated Biliary Atresia |
|
Hepatomegaly, Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Atretic gal... |
ORPHA:30391 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Impaired temperature sensation, Obesity, Abdominal obesity, Lethargy, Failure to thrive |
ORPHA:398079 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... |
ORPHA:881 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract |
OMIM:619649 |
Trisomy 13 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hernia |
ORPHA:3378 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Obesity |
ORPHA:163681 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Ventricular septal defect, Ataxia |
OMIM:614424 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... |
ORPHA:1333 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Gastrointestinal hemorrhage, Raynaud phenomenon, Splenomegaly, Jaundice... |
OMIM:613471 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity |
OMIM:603233 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Mitr... |
OMIM:616564 |
Non-Functioning Pituitary Adenoma |
|
Increased intraabdominal fat, Pallor, Hypotension |
ORPHA:91349 |
Borjeson-Forssman-Lehmann Syndrome |
|
Camptodactyly of toe, Truncal obesity, Skeletal muscle atrophy |
ORPHA:127 |
Leptin Receptor Deficiency |
|
Obesity |
OMIM:614963 |
Spondylo-Ocular Syndrome |
|
Facial hypotonia, Ventricular septal defect |
ORPHA:85194 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Weight loss, Hyperte... |
ORPHA:91347 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity |
OMIM:617885 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... |
OMIM:208000 |
Arachnoid Cyst |
|
Subarachnoid hemorrhage, Depression, Social and occupational deterioration, Irritability, Memory ... |
ORPHA:2356 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Small for gestational... |
ORPHA:2255 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Small for gestational age, Patent ductus arteri... |
OMIM:610443 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Hypertrophi... |
OMIM:605275 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Ataxia, Congesti... |
ORPHA:506 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Mediastinal lymphad... |
ORPHA:199241 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
Distal 16P11.2 Microdeletion Syndrome |
|
Obesity |
ORPHA:261222 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve... |
OMIM:600987 |
2Q37 Microdeletion Syndrome |
|
Umbilical hernia, Obesity, Congenital diaphragmatic hernia |
ORPHA:1001 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
Familial Mediterranean Fever |
|
Pericarditis, Myocardial infarction, Splenomegaly, Peritonitis, Vasculitis, Lymphadenopathy, Arrh... |
ORPHA:342 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... |
ORPHA:3097 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular... |
OMIM:300998 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Raynaud phenomenon, Vasculitis, Biliary cirrhosis, L... |
ORPHA:289390 |
Distal Deletion 12Q |
|
Failure to thrive in infancy, Impaired pain sensation, Patent ductus arteriosus, Elbow flexion co... |
ORPHA:96149 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Truncal obesity, Failure to thrive, Small for gestational age |
ORPHA:73272 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss |
ORPHA:99978 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:85202 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ventricular septal defect, Flexion contracture, Disproportionate tall stature, Atrial septal defe... |
OMIM:309520 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Dorsocervical fat pad, Increased body weight, Proximal amyotrophy, Hypertension, Abdominal obesit... |
ORPHA:189427 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Redundant skin, Congestive hear... |
OMIM:123700 |
Transketolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... |
ORPHA:488618 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Pallor |
ORPHA:348 |
Miller Fisher Syndrome |
|
Anisocoria, Mydriasis |
ORPHA:98919 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Orotic Aciduria |
|
Atrial septal defect, Failure to thrive, Ventricular septal defect |
OMIM:258900 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Intestinal bleeding, Lymphadenopathy |
ORPHA:424019 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Obesity |
OMIM:619680 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
Iatrogenic Botulism |
|
Orthostatic hypotension, Mydriasis |
ORPHA:254509 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral val... |
ORPHA:371428 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Hennekam Syndrome |
|
Camptodactyly of finger, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Lymphade... |
ORPHA:2136 |
Trisomy 1Q |
|
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... |
ORPHA:261344 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Lipoma, Subvalvular aortic stenosis, Atrial septal defect, Multiple ce... |
OMIM:613001 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Patent ductus arteriosus, Obesity, Abnormal heart morphology, Atrial septal defect, Restrictive c... |
ORPHA:369837 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Progressive neurologic deterioration, Splenomegaly, Anemia, Failure to thrive, Thro... |
OMIM:230900 |
Momo Syndrome |
|
Overgrowth, Obesity, Tall stature, Large for gestational age |
ORPHA:2563 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea... |
ORPHA:1727 |
Senior-Loken Syndrome 9 |
|
Obesity |
OMIM:616629 |
Laron Syndrome |
|
Truncal obesity |
ORPHA:633 |
Coats Disease |
|
Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ataxia, Cardiomegaly, S... |
OMIM:300967 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Telangiectasia of the skin, Ventricular septal defect, Congenital d... |
ORPHA:2092 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial se... |
OMIM:617478 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Hepatic cysts, Portal hypertension, Hematemesis, Splenomegaly, Pancreatic cysts, Hy... |
OMIM:263200 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,... |
ORPHA:677 |
Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Camptodactyly, Atrial septal defect, ... |
OMIM:617602 |
Alstrom Syndrome |
|
Hypertension, Dilated cardiomyopathy, Truncal obesity, Congestive heart failure |
OMIM:203800 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:220500 |
Rabin-Pappas Syndrome |
|
Overgrowth, Obesity, Failure to thrive in infancy, Retinal telangiectasia |
OMIM:620155 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
Choreoacanthocytosis |
|
Bradyphrenia, Hepatomegaly, Resting tremor, Short attention span, Elevated circulating creatine k... |
ORPHA:2388 |
Cutis Marmorata Telangiectatica Congenita |
|
Ascites, Telangiectasia of the skin, Leukocoria, Cognitive impairment |
ORPHA:1556 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... |
ORPHA:649 |
Charcot-Marie-Tooth Disease Type 4C |
|
Anisocoria, Failure to thrive, Head tremor |
ORPHA:99949 |
Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Small for gestational age, Anemic pallor, Abnormal heart morphology |
OMIM:227646 |
Kallmann Syndrome |
|
Ataxia, Obesity, Gait disturbance |
ORPHA:478 |
Bohring-Opitz Syndrome |
|
Ventricular septal defect, Flexion contracture, Cutis laxa, Camptodactyly, Atrial septal defect, ... |
OMIM:605039 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertension, Obesity, Myocardial infarction |
OMIM:618620 |
Pseudopseudohypoparathyroidism |
|
Obesity |
ORPHA:79445 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Goodpasture Syndrome |
|
Weight loss, Pulmonary hemorrhage, Anemia, Increased blood urea nitrogen |
OMIM:233450 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Developmental glaucoma, Obesity |
ORPHA:1772 |
Codas Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology |
ORPHA:1458 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec... |
OMIM:244300 |
Yellow Fever |
|
Shock, Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Supr... |
ORPHA:99829 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
OMIM:619657 |
Hamamy Syndrome |
|
Inguinal hernia, Prolonged QRS complex, Microcytic anemia, Complete atrioventricular canal defect... |
OMIM:611174 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Skeletal muscle atrophy, Ataxia, Limb joint contracture, Flexion contracture, Truncal obesity, Lo... |
OMIM:301072 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Myocardial infarction, Pancreatoblastoma, Neoplasm of the thymus, Increased body weight, Pancreat... |
ORPHA:99889 |
19P13.3 Microduplication Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:447980 |
Luscan-Lumish Syndrome |
|
Overgrowth, Obesity |
OMIM:616831 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria, Orthostatic hypotension |
OMIM:615510 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
Chromosome 9P Deletion Syndrome |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Patent ductus arteriosus, Heart murmur, ... |
OMIM:158170 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hypertension, Abdominal obesity, Increased body weight |
OMIM:615954 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Raynaud phenomenon, Lymphadenopathy, T lymphocytopenia, Neutropenia,... |
OMIM:607944 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Hypertension, Truncal obesity, Striae distensae |
OMIM:610475 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Septo-Optic Dysplasia Spectrum |
|
Dry skin, Obesity |
ORPHA:3157 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia |
OMIM:617827 |
Congenital Tracheomalacia |
|
Failure to thrive, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial ano... |
ORPHA:95430 |
Williams Syndrome |
|
Bicuspid aortic valve, Redundant skin, Myocardial infarction, Cardiomegaly, Dysmetria, Atrial sep... |
ORPHA:904 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Failure to thrive, Inguinal hernia, Ventricular septal defect, Abnor... |
ORPHA:567 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Erythema, Retinal hemorrhage, Cornea... |
OMIM:614653 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Overgrowth, Unsteady gait, Ventricular septal defect |
OMIM:617798 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Camptodactyly, Atri... |
OMIM:300963 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:75389 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Redundant skin, Patent ductus arteriosus, Atr... |
ORPHA:96167 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Broad-based gait, Torticollis, Ventricular septal defect, Bicuspid aortic v... |
OMIM:619475 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Ventricular septal defect |
OMIM:617895 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly... |
ORPHA:158687 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Proximal amyotrophy, Disproportionate tall stature, Palpitat... |
ORPHA:653 |
Acrocardiofacial Syndrome |
|
Death in infancy, Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Atrial sep... |
ORPHA:2008 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Obesity Due To Congenital Leptin Deficiency |
|
Obesity, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:66628 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Developmen... |
OMIM:245600 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Broad-based gait, Inguinal hernia, Ventricular septal defect, Large for gestational age, Dry skin... |
OMIM:280000 |
Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Obesity |
OMIM:612462 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi... |
OMIM:181000 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Cataract, Splenomegaly, Hypertension, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Leukodystrophy, Hypomyelinating, 13 |
|
Irritability, Exaggerated startle response, Failure to thrive, Joint contracture |
OMIM:616881 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Redundant neck skin, Ventricular septal defect, Camptodactyly |
OMIM:617360 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Obesity, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:179494 |
Zellweger Syndrome |
|
Death in infancy, Failure to thrive, Ventricular septal defect |
ORPHA:912 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Failure to thrive, Unsteady gait, Ventricular septal defect |
OMIM:212066 |
Prader-Willi Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Impaired pain sensation, Obesity, Abdominal ... |
OMIM:176270 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Lymphadenopathy |
ORPHA:142 |
Prader-Willi Syndrome Due To Translocation |
|
Patent ductus arteriosus, Patent foramen ovale, Obesity, Abnormal heart morphology |
ORPHA:177907 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Atrial septal defect, Hypertension, Pulmonary arterial hypertension, Mydriasis |
OMIM:613834 |
Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
Pseudohypoparathyroidism, Type Ia |
|
Enamel hypoplasia, Obesity |
OMIM:103580 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Death in infancy, Ventricular septal defect, Hematochezia, Death in childhood, Ename... |
OMIM:243150 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly |
OMIM:619123 |
Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitonea... |
ORPHA:449395 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment, Dystonia |
ORPHA:309246 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Flexion contracture of finger, Ventricular septal defect, Small for gestati... |
ORPHA:464311 |
Cantú Syndrome |
|
Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Patent ... |
OMIM:130720 |
Bardet-Biedl Syndrome 6 |
|
Obesity |
OMIM:605231 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response, Irritability, Joint contracture, Failure to t... |
OMIM:617864 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Limb hypertonia |
OMIM:616920 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Congenital diaphragmatic hernia, Umbilical hernia, Diaphr... |
OMIM:222448 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1770 |
Momo Syndrome |
|
Overgrowth, Obesity |
OMIM:157980 |
Pentalogy Of Cantrell |
|
Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic... |
ORPHA:1335 |
Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... |
OMIM:115470 |
Niemann-Pick Disease Type C |
|
Axial dystonia, Hepatomegaly, Dystonia, Bone-marrow foam cells, Fetal ascites, Tremor, Splenomega... |
ORPHA:646 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Small for gestational age, Ventricular septal defect, Subvalvular aortic st... |
OMIM:614114 |
Hyperekplexia 3 |
|
Exaggerated startle response, Syncope, Hiatus hernia |
OMIM:614618 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Adenohypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95512 |
Ring Chromosome Y Syndrome |
|
Obesity |
ORPHA:261529 |
Hyperekplexia 2 |
|
Exaggerated startle response, Astigmatism, Hiatus hernia |
OMIM:614619 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:457193 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Raynaud phenomenon, Lymphadenopathy, Depression, Leukopenia, Hypertension, Thro... |
ORPHA:536 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Splenomegaly, Arthrogryposis multiplex congenita, Arrhythmia, Heterochromia iridis |
ORPHA:163746 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Bardet-Biedl Syndrome 20 |
|
Atrial septal defect, Obesity |
OMIM:619471 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Scarring, Abnormal circulating porphyrin concentration, Splenomegaly, Scarring ... |
ORPHA:95159 |
Mckusick-Kaufman Syndrome |
|
Failure to thrive, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, A... |
ORPHA:2473 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Per... |
OMIM:301040 |
Panhypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95513 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Inguinal hernia, Ventricular septal defect, Elbow contracture, Elbow flexion con... |
OMIM:178110 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... |
OMIM:142900 |
Papa Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Inguinal hernia, Redundant neck skin, Ventricular septal defect |
OMIM:235255 |
1P36 Deletion Syndrome |
|
Failure to thrive, Abnormal heart valve morphology, Camptodactyly of finger, Patent ductus arteri... |
ORPHA:1606 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Inguinal hernia, Abnormal heart valve morphology, Telangiectasia of the skin, Transi... |
ORPHA:286 |
Retinoblastoma |
|
Vitreous hemorrhage, Leukemia, Leukocoria |
OMIM:180200 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Obesity, Abnormal ... |
ORPHA:444077 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Ventricular septal defect, Inability to walk, Difficulty walking, Atrial septal ... |
ORPHA:464738 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... |
ORPHA:353281 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Impaired pain sensation, Abnormal heart morphol... |
ORPHA:453499 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Small for gestational age, Scarring, Microcytic anemia, Keratitis, Le... |
ORPHA:99843 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Carpenter Syndrome 2 |
|
Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Obesity,... |
OMIM:614976 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Corneal opacity, Cach... |
ORPHA:2072 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inguinal hernia, Multiple joint contractures, Cardiomegaly, Umbilical hernia, Arthr... |
OMIM:618143 |
Incontinentia Pigmenti |
|
Scarring, Pallor, Erythema, Retinal hemorrhage |
OMIM:308300 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:610338 |
Helsmoortel-Van Der Aa Syndrome |
|
Facial palsy, Obesity, Heart murmur, Mitral valve prolapse, Abnormal heart morphology, Truncal ob... |
OMIM:615873 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... |
OMIM:620294 |
Proprotein Convertase 1/3 Deficiency |
|
Obesity |
OMIM:600955 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Patent ductus arteriosus, Ventricular septal defect |
OMIM:300514 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Large for gestational age, Pulm... |
OMIM:607721 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
Methimazole Embryofetopathy |
|
Ventricular septal defect |
ORPHA:1923 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Ataxia... |
ORPHA:466791 |
Williams-Beuren Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Failure t... |
OMIM:194050 |
Mgat2-Cdg |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Reflex asystolic ... |
ORPHA:79329 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Right bundle branch... |
OMIM:617506 |
Medullary Thyroid Carcinoma |
|
Weight loss, Abnormal liver parenchyma morphology, Lymphadenopathy |
ORPHA:1332 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Flexion contracture, Abnormal hemoglobin, Anemia, Depression |
ORPHA:847 |
Dysosteosclerosis |
|
Ventricular septal defect, Abnormal dental enamel morphology |
ORPHA:1782 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni di... |
OMIM:613309 |
Distal Deletion 19P |
|
Vaginal hernia, Ventricular septal defect, Keloids, Tricuspid valve prolapse, Umbilical hernia, P... |
ORPHA:96129 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Omphalocele, Ventricular septal defect |
OMIM:145420 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Inguinal hernia, Ventricular septal defect |
OMIM:616449 |
Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger |
ORPHA:2876 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Inguinal hernia, Ventricular septal defect, Heart murmur |
ORPHA:166035 |
Kabuki Syndrome |
|
Failure to thrive, Abnormal cardiac septum morphology, Obesity, Congenital diaphragmatic hernia |
ORPHA:2322 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Cushing Disease |
|
Dorsocervical fat pad, Myocardial infarction, Increased body weight, Skin ulcer, Proximal amyotro... |
ORPHA:96253 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia |
ORPHA:99867 |
Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Absence of subcutaneous fat, Gait ataxia,... |
ORPHA:33364 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Ventricular septal defect, Foot joint contracture, Mitral valve prolapse, Abnorm... |
ORPHA:444072 |
Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Confusion, Mydriasis |
ORPHA:79138 |
Oculopalatocerebral Syndrome |
|
Leukocoria |
OMIM:257910 |
Prolactinoma |
|
Pallor, Hypotension |
ORPHA:2965 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... |
OMIM:608328 |
Generalized Pustular Psoriasis |
|
Overweight, Congestive heart failure, Obesity |
ORPHA:247353 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Small for gestation... |
ORPHA:464306 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopat... |
ORPHA:538 |
Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Müllerian Aplasia And Hyperandrogenism |
|
Obesity |
ORPHA:247768 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Omphalocele, Pulmonary insufficiency, Bicuspid aortic valve, Ventricular septal defect, Parachute... |
OMIM:265380 |
Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1908 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Obesity |
OMIM:618395 |
Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity |
ORPHA:3224 |
Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Flexion contracture, Ventricular septal defect, Dry skin |
OMIM:619306 |
Thauvin-Robinet-Faivre Syndrome |
|
Inguinal hernia, Ventricular septal defect, Large for gestational age, Mitral valve prolapse, Mac... |
OMIM:617107 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Hypertension, Truncal obesity, Striae distensae |
OMIM:610489 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Failure to thrive, Flexion contracture |
OMIM:618201 |
Chromosome 15Q25 Deletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Corona... |
OMIM:614294 |
Achondroplasia |
|
Obesity |
ORPHA:15 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity |
OMIM:608624 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
Pseudotrisomy 13 Syndrome |
|
Omphalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atr... |
OMIM:264480 |
Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Hypertension, Obesity |
ORPHA:69663 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Obesity |
OMIM:194072 |
Knobloch Syndrome 1 |
|
Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L... |
OMIM:267750 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger... |
ORPHA:99776 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:611134 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect |
OMIM:620073 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Hernia |
ORPHA:96097 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:612530 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity |
OMIM:609734 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Hypertension, Pallor, Hypertensive crisis |
ORPHA:544482 |
Oculodentodigital Dysplasia |
|
Ventricular septal defect, Camptodactyly of finger, Ataxia, Abnormal dental enamel morphology, Ga... |
ORPHA:2710 |
Down Syndrome |
|
Redundant neck skin, Ventricular septal defect, Complete atrioventricular canal defect, Patent du... |
OMIM:190685 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Small for gestational age, Patent ductus arteriosus, Unsteady gait, Fl... |
OMIM:180849 |
Dysbetalipoproteinemia |
|
Tendon xanthomatosis, Angina pectoris, Obesity |
ORPHA:412 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abnormal cardiac septu... |
ORPHA:97297 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Failure to thrive, Ventricular septal defect |
OMIM:615503 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Failure to thrive, Small for gestational age, Obesity, Impaired temperature sensation |
ORPHA:98754 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein ... |
ORPHA:420741 |
Meningioma |
|
Ataxia, Facial palsy, Cerebral hemorrhage, Obesity, Upper limb muscle weakness, Syncope, Difficul... |
ORPHA:2495 |
Oculo-Palato-Cerebral Syndrome |
|
Cataract, Leukocoria |
ORPHA:2714 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Failure to thrive, Small for gestational age, Obesity, Impaired temperature sensation |
ORPHA:98793 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale |
OMIM:620113 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Failure to thrive, Small for gestational age, Obesity, Impaired temperature sensation |
ORPHA:177904 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ... |
ORPHA:2461 |
Mody |
|
Overweight, Obesity, Large for gestational age |
ORPHA:552 |
Wagro Syndrome |
|
Hypertension, Obesity |
OMIM:612469 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Failure to thrive, Small for gestational age, Obesity, Impaired temperature sensation |
ORPHA:177901 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Inability to walk, Macroglos... |
ORPHA:488632 |
Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d... |
ORPHA:1780 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Ventricular septal defect, Cardiomyopathy, Macroglossia, Atr... |
ORPHA:769 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Small for gestational age, Patent ductus arteriosus, Abnormal heart mo... |
ORPHA:1708 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Bradycardia |
OMIM:608800 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... |
OMIM:612474 |
Hand-Foot-Genital Syndrome |
|
Miscarriage, Ventricular septal defect |
ORPHA:2438 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Tremor, Irritability, Failure to thrive, Hypoasparaginemia |
OMIM:615574 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Cellulitis, Arrhythmia, Tetralogy of Fallot |
OMIM:153400 |
Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response |
ORPHA:3198 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:300472 |
Trisomy 18 |
|
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... |
ORPHA:3380 |
Digeorge Syndrome |
|
Posterior embryotoxon, Inguinal hernia, Ventricular septal defect, Femoral hernia, Sclerocornea, ... |
OMIM:188400 |
Marshall-Smith Syndrome |
|
Omphalocele, Failure to thrive, Ventricular septal defect, Patent ductus arteriosus, Premature ve... |
OMIM:602535 |
Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Heart murmur, Palpitatio... |
ORPHA:100079 |
Lymphatic Filariasis |
|
Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi... |
ORPHA:2035 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate... |
OMIM:270100 |
Igg4-Related Ophthalmic Disease |
|
Cholangitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitoneal... |
ORPHA:449563 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ... |
ORPHA:79280 |
Hajdu-Cheney Syndrome |
|
Inguinal hernia, Ventricular septal defect, Mitral stenosis, Patent ductus arteriosus, Dry skin, ... |
ORPHA:955 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... |
OMIM:609942 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Depression |
OMIM:620114 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Hypoplastic left heart, Difficulty walking, Tetralogy of Fallot, Paten... |
OMIM:618748 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Overweight, Failure to thrive, Ventricular septal defect |
OMIM:619575 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Choreoathetosis, Episodic ataxia, Umbilical hernia, Failure to thrive |
ORPHA:1934 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Broad-based gait, Inguinal hernia, Ventricular septal defect, Abnormal pulm... |
ORPHA:268261 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Camptodactyly, Atr... |
OMIM:235510 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Patent ductus arteriosus, Neonatal death... |
OMIM:269860 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... |
ORPHA:353277 |
Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Ventricular septal defect, Facial palsy, Patent ductus arteriosus, Joint contracture... |
OMIM:300373 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Impaired pain sensation, Inability to walk, Typ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Impaired pain sensation, Inability to walk, Typ... |
ORPHA:352665 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Inguinal hernia, Ventricular septal defect |
ORPHA:2789 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
OMIM:618454 |
Pneumocystosis |
|
Weight loss, Abnormal neutrophil count |
ORPHA:723 |
Witteveen-Kolk Syndrome |
|
Inguinal hernia, Cataract, Small for gestational age, Congenital diaphragmatic hernia, Obesity, C... |
OMIM:613406 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ... |
OMIM:616894 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Cerebral hemorrhage, Hiatus hernia, Patent ductus arteriosus, Unsteady... |
OMIM:616682 |
Alg9-Cdg |
|
Omphalocele, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Lipodystrophy, Hypo... |
ORPHA:79328 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Broad-based gait, Ventricular septal defect |
ORPHA:251028 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Obesity |
ORPHA:2235 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Inguinal hernia, Ventricular septal defect, Large for gestational age, Abnormal right ventricle m... |
ORPHA:500095 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity |
OMIM:617547 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Flexion contracture, Knee flexion contracture, Facial erythema, Scaling skin, Diaphragmatic event... |
OMIM:619503 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... |
OMIM:607872 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger |
ORPHA:261236 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Coronary sinus enlargement, Tip-toe gait, Atrial septal defect, Dry sk... |
OMIM:619268 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Bidirectional shunt, Elevated pulmonary artery pressure, Peritonitis, Mydriasis |
OMIM:619351 |
6Q Terminal Deletion Syndrome |
|
Failure to thrive, Obesity, Dysmetria, Gait ataxia |
ORPHA:75857 |
Chime Syndrome |
|
Ventricular septal defect, Erythema, Tetralogy of Fallot, Skin ulcer, Transposition of the great ... |
ORPHA:3474 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... |
OMIM:610759 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Dry skin, Pul... |
ORPHA:163956 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... |
OMIM:309801 |
Trichohepatoneurodevelopmental Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Distal arthrogryposis, Decreas... |
OMIM:618268 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Transient ischemic attack, Left ventricular systolic dysfunction, Choroi... |
ORPHA:51608 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... |
OMIM:277600 |
Ulnar-Mammary Syndrome |
|
Inguinal hernia, Ventricular septal defect, Elbow flexion contracture, Obesity, Arrhythmia |
OMIM:181450 |
Mosaic Trisomy 1 |
|
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... |
ORPHA:1692 |
Narcolepsy 7 |
|
Obesity |
OMIM:614250 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Omphalocele, Ventricular septal defect, Diastasis recti, Patent duct... |
OMIM:257920 |
Opitz Gbbb Syndrome |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
ORPHA:2745 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect,... |
ORPHA:438213 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:611812 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Inguinal hernia, Ventricular septal defect, Ataxia, Inability to walk, Dilatation of the ventricu... |
ORPHA:459070 |
Frank-Ter Haar Syndrome |
|
Redundant neck skin, Ventricular septal defect, Secundum atrial septal defect, Mitral valve prola... |
OMIM:249420 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Ventricular septal defect, Gait ataxia, Lower-limb joint contracture, Failure t... |
ORPHA:513456 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Death in childhood |
OMIM:600460 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
Holoprosencephaly |
|
Omphalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Failure to thrive in... |
ORPHA:2162 |
Costello Syndrome |
|
Redundant neck skin, Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Mi... |
OMIM:218040 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... |
OMIM:617063 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Flexion contracture |
OMIM:609541 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Contractures of the large joints, Exaggerated startle response, Failure to thrive, Cognitive impa... |
OMIM:617527 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Failure to thrive, Hip contracture, Ventricular septal defect, Shoulder flexion... |
OMIM:210710 |
Fryns Syndrome |
|
Omphalocele, Ventricular septal defect, Large for gestational age, Stillbirth, Aplasia of the lef... |
OMIM:229850 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Multiple joint contractures |
ORPHA:320406 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion contracture, Ar... |
OMIM:617301 |
Jacobsen Syndrome |
|
Atrial septal defect, Flexion contracture, Failure to thrive, Ventricular septal defect |
OMIM:147791 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right... |
ORPHA:2209 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec... |
ORPHA:3047 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect |
OMIM:219730 |
Prader-Willi Syndrome |
|
Hypertension, Abdominal obesity, Failure to thrive, Impaired temperature sensation |
ORPHA:739 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Aortic regurgitation, Waddling gait, Tricuspid regurgitation, Ventricula... |
OMIM:143095 |
Webb-Dattani Syndrome |
|
Obesity |
OMIM:615926 |
Sponastrime Dysplasia |
|
Cataract, Small for gestational age, Neutropenia, Microcoria, Congenital aphakia |
ORPHA:93357 |
Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep... |
OMIM:607323 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Atrial... |
ORPHA:261330 |
Hyperekplexia 1 |
|
Umbilical hernia, Exaggerated startle response, Inguinal hernia |
OMIM:149400 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect |
OMIM:618021 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79345 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity |
ORPHA:319675 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse... |
ORPHA:363700 |
X Small Rings |
|
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve |
ORPHA:96201 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Macroglossia, Umbilical hernia |
ORPHA:96191 |
Desbuquois Dysplasia 2 |
|
Truncal obesity |
OMIM:615777 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Camptodactyly |
OMIM:272950 |
Opitz Gbbb Syndrome |
|
Umbilical hernia, Inguinal hernia, Ventricular septal defect |
OMIM:300000 |
Cherubism |
|
Marcus Gunn pupil, Macular scar, Submandibular lymph node enlargement |
OMIM:118400 |
Robinow Syndrome |
|
Ventricular septal defect, Small for gestational age, Abnormal heart morphology, Pulmonic stenosi... |
ORPHA:97360 |
Codas Syndrome |
|
Omphalocele, Ventricular septal defect, Atrial septal defect, Atrioventricular canal defect, Enam... |
OMIM:600373 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Limb hypertonia |
OMIM:609460 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Inguinal hernia, Ventricular septal defect, Abnormal pulmonary valve morphology... |
ORPHA:1507 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Truncal obesity, Obesity |
ORPHA:466950 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Omphalocele, Redundant neck skin, Miscarriage, Ventricular septal defect, Interphalangeal joint c... |
ORPHA:96334 |
Xylt1-Cdg |
|
Truncal obesity |
ORPHA:370930 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Obesity |
ORPHA:209902 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno... |
OMIM:614609 |
Hajdu-Cheney Syndrome |
|
Inguinal hernia, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Failure t... |
OMIM:102500 |
Plaa-Associated Neurodevelopmental Disorder |
|
Contractures of the large joints, Exaggerated startle response, Failure to thrive, Dystonia |
ORPHA:521426 |
Bloom Syndrome |
|
Adipose tissue loss, Abdominal obesity, Small for gestational age, Telangiectasia |
ORPHA:125 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Inguinal hernia, Ventricular septal defect, Camptodactyly of finger |
ORPHA:251014 |
Craniopharyngioma |
|
Cerebral ischemia, Obesity, Myocardial infarction |
ORPHA:54595 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... |
OMIM:615067 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Anemic pallor |
ORPHA:329971 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... |
OMIM:157800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Umbilical hernia, Obesity |
OMIM:301066 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Chikungunya |
|
Epistaxis, Raynaud phenomenon, Cervical lymphadenopathy, Depression, Lymphadenopathy, Enthesitis |
ORPHA:324625 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Obesity |
OMIM:616078 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Flexion contracture, Double ou... |
OMIM:300166 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Knee flexion contracture |
OMIM:620232 |
Phace Association |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:606519 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Hernia, Atrial se... |
ORPHA:1465 |
Velocardiofacial Syndrome |
|
Umbilical hernia, Inguinal hernia, Tetralogy of Fallot, Ventricular septal defect |
OMIM:192430 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ... |
OMIM:100300 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morphology, Lymphadenopathy |
ORPHA:449432 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Obesity |
OMIM:250420 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facia... |
ORPHA:508498 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Decr... |
OMIM:271640 |
Yunis-Varon Syndrome |
|
Cataract, Ventricular septal defect, Sclerocornea, Cardiomegaly, Renovascular hypertension, Cardi... |
ORPHA:3472 |
Pallister-Hall Syndrome |
|
Neonatal death, Patent ductus arteriosus, Ventricular septal defect |
OMIM:146510 |
Renal Agenesis |
|
Hypertension, Ventricular septal defect |
ORPHA:411709 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:268249 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Hepatoblastoma, ... |
OMIM:130650 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Truncal obesity, Enamel hypoplasia |
OMIM:210720 |
Orofaciodigital Syndrome V |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:174300 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
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Ventricular septal defect |
OMIM:250410 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Small for gestational age,... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Small for gestational age,... |
ORPHA:363958 |
Aromatase Deficiency |
|
Eunuchoid habitus, Obesity, Tall stature |
ORPHA:91 |
Neu-Laxova Syndrome 1 |
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Ventricular septal defect, Patent ductus arteriosus, Yellow subcutaneous tissue covered by thin, ... |
OMIM:256520 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:300712 |
Arboleda-Tham Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Upper limb am... |
OMIM:616268 |
Specc1L-Related Hypertelorism Syndrome |
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Omphalocele, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical... |
ORPHA:1519 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Failure to thrive in infancy, Patent ductus arteriosus, Pulmonic steno... |
OMIM:163950 |
Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect, Mydriasis |
OMIM:619727 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor, Muscular dystrophy |
OMIM:253280 |
Zttk Syndrome |
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Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, A... |
OMIM:617140 |
Retinitis Pigmentosa 74 |
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Obesity |
OMIM:616562 |
Thrombocytopenia-Absent Radius Syndrome |
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Death in infancy, Ventricular septal defect, Shoulder muscle hypoplasia, Patent ductus arteriosus... |
OMIM:274000 |
Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Diaphragmatic eventration, Ventricular septal defect, Aortopulmonary window, Aplasia of the left ... |
OMIM:620025 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Atria... |
ORPHA:163979 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Obesity |
ORPHA:466943 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Choreoathetosis, Dystonia, Mental deterioration, Abnormal T-wave |
ORPHA:3464 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Weight loss, Lymphadenopathy, Keratoconjunctivitis sicca, Thrombocytopenia |
ORPHA:79078 |
Pallister-Killian Syndrome |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Inabili... |
OMIM:601803 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Patent ductus arteri... |
ORPHA:261337 |
Diets-Jongmans Syndrome |
|
Umbilical hernia, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:618846 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Dentinogenesis imperfecta, Obesity |
OMIM:619269 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Tall stature |
OMIM:616975 |
Carney Complex |
|
Striae distensae, Dorsocervical fat pad, Cardiac myxoma, Congestive heart failure, Increased body... |
ORPHA:1359 |
Cornelia De Lange Syndrome 1 |
|
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Hiatus hernia, Elbow... |
OMIM:122470 |
Chromosome 16P13.3 Duplication Syndrome |
|
Inguinal hernia, Ventricular septal defect, Facial hypotonia, Small thenar eminence, Camptodactyl... |
OMIM:613458 |
Adnp Syndrome |
|
Truncal obesity, Inguinal hernia, Umbilical hernia |
ORPHA:404448 |
Jacobsen Syndrome |
|
Death in infancy, Inguinal hernia, Ventricular septal defect, Hypoplastic left heart, Aortic valv... |
ORPHA:2308 |
Okamoto Syndrome |
|
Omphalocele, Redundant neck skin, Ventricular septal defect, Abnormal left ventricle morphology, ... |
ORPHA:2729 |
Limb Body Wall Complex |
|
Ventral hernia, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abno... |
ORPHA:2369 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Ventricular septal defect |
ORPHA:1393 |
Cornelia De Lange Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Truncal obesity, Atrial septal defect... |
ORPHA:199 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
White-Kernohan Syndrome |
|
Obesity |
OMIM:619426 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Failure to thrive, Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:608670 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Inguinal hernia, Ventricular septal defect, Small for gestational ag... |
ORPHA:508488 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Abnormal T-wave, Hyperlipidemia, Dystonia |
OMIM:241080 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Redundant neck skin, Failure to thrive, Obesity |
OMIM:617157 |
Acrofacial Dysostosis 1, Nager Type |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmati... |
OMIM:154400 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect |
OMIM:263520 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Inguinal hernia, Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Di... |
OMIM:312870 |
Monosomy 22Q13.3 |
|
Umbilical hernia, Obesity, Impaired pain sensation |
ORPHA:48652 |
Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Pulmonary valve atresia, Ventricular septal defect |
OMIM:301030 |
Catel-Manzke Syndrome |
|
Inguinal hernia, Overriding aorta, Ventricular septal defect, Dextrocardia, Camptodactyly, Umbili... |
OMIM:616145 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Situs inversus totalis, Joint contracture of the hand, Death in childh... |
OMIM:309500 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Pa... |
ORPHA:818 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect |
OMIM:101200 |
Feingold Syndrome 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Tricuspid atresia, Tricuspid stenosis |
OMIM:164280 |
Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect |
ORPHA:1724 |
Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:206900 |
Cerebrocostomandibular Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Elbow flexion contracture |
OMIM:117650 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... |
OMIM:301044 |
Alagille Syndrome 1 |
|
Atrial septal defect, Failure to thrive, Tetralogy of Fallot, Ventricular septal defect |
OMIM:118450 |
Chromosome 13Q14 Deletion Syndrome |
|
Umbilical hernia, Ventricular septal defect, Patent foramen ovale, Inguinal hernia |
OMIM:613884 |
Coffin-Siris Syndrome 1 |
|
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteri... |
OMIM:135900 |
1P21.3 Microdeletion Syndrome |
|
Obesity |
ORPHA:293948 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Complete atrioventricular canal defect, Stillbirth, Agene... |
OMIM:236680 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Intestinal bleeding, Lymphadenopathy |
ORPHA:424016 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Obesity |
OMIM:614231 |
Viss Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd toe, Epidural hemorrhage, Inguinal h... |
OMIM:619472 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Ventricular septal defect |
ORPHA:436252 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology |
ORPHA:1071 |
Vater/Vacterl Association |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Transposition of the gr... |
OMIM:192350 |
Larsen Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:150250 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Failure to thrive, Tetralogy of Fallot, Ventricular septal defect, Inguinal hernia |
OMIM:619525 |
Keutel Syndrome |
|
Hypertension, Miscarriage, Ventricular septal defect, Pulmonic stenosis |
OMIM:245150 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Obesity, Impaired pain sensation |
ORPHA:293987 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge... |
OMIM:601992 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Pain insensitivity, Umbilical hernia, Broad-based gait, Ventricular septal defect |
OMIM:620330 |
Congenital Tracheal Stenosis |
|
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart |
ORPHA:141127 |
Omodysplasia 1 |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect |
OMIM:258315 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... |
ORPHA:391665 |
Femoral-Facial Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Inguinal hernia, Pulmonic stenosis |
OMIM:134780 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Abdominal obesity, Flexion contracture |
OMIM:619321 |
Pallister-Hall Syndrome |
|
Inguinal hernia, Ventricular septal defect, Large for gestational age, Patent ductus arteriosus, ... |
ORPHA:672 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... |
OMIM:182250 |
Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Ataxia, Flexion contracture, Knee flexion contracture, ... |
OMIM:259050 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Exaggerated startle response |
OMIM:618367 |
Peters-Plus Syndrome |
|
Ventricular septal defect, Diastasis recti, Patent ductus arteriosus, Pulmonic stenosis, Decrease... |
OMIM:261540 |
Charge Syndrome |
|
Omphalocele, Overriding aorta, Ventricular septal defect, Facial palsy, Secundum atrial septal de... |
OMIM:214800 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Macroglossia, Lower limb hypertonia, Obesity |
OMIM:309580 |
Alström Syndrome |
|
Somatic sensory dysfunction, Ataxia, Dorsocervical fat pad, Portal hypertension, Congestive heart... |
ORPHA:64 |
Johanson-Blizzard Syndrome |
|
Ventricular septal defect, Small for gestational age, Portal hypertension, Situs inversus totalis... |
OMIM:243800 |
Sotos Syndrome |
|
Hip contracture, Inguinal hernia, Ventricular septal defect, Ankle flexion contracture, Patent du... |
ORPHA:821 |
Orofaciodigital Syndrome Type 14 |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:434179 |
Townes-Brocks Syndrome 1 |
|
Ventricular septal defect, Small for gestational age, Atrial septal defect, Umbilical hernia, Tet... |
OMIM:107480 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |
Orofaciodigital Syndrome Xiv |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615948 |
Proboscis Lateralis |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:141099 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Atrial septal defect, Exaggerated startle response, Ventricular septal defect, Attention deficit ... |
OMIM:619522 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Ankle flexion contracture, Patent ductus arteriosus, Elbow flexion con... |
OMIM:268300 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Ventricular septal defect, Small for gestational age, Failure to thrive in i... |
OMIM:216340 |
Genitopatellar Syndrome |
|
Atrial septal defect, Hip contracture, Ventricular septal defect, Knee flexion contracture |
OMIM:606170 |
Penile Agenesis |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:49 |
Kabuki Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:147920 |
Craniofacial Microsomia 1 |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Hypoplasia of facial mu... |
OMIM:164210 |