Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt... |
ORPHA:232 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Intermittent jaundice, Cholelithiasis, Congenital hemolytic anemia, In... |
ORPHA:3202 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ventricular dia... |
ORPHA:75565 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Failure to thrive, Lethargy, Gait disturbance, Pallor |
ORPHA:79283 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Jaundi... |
OMIM:616689 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... |
OMIM:205950 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cognitive impairment, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, Left vent... |
ORPHA:90065 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Dementia, Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center, Abnormality of the liver, Endocardial fibrosis |
OMIM:235550 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... |
OMIM:619041 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... |
OMIM:612561 |
Anterior Segment Dysgenesis 8 |
|
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... |
OMIM:617319 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Abnormal circulating creatine kinase concentration, Ventricular hypertrophy, Right bundle branch ... |
ORPHA:263297 |
Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... |
OMIM:261000 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Paresthesia, Pallor, Impaired distal tactile sensation, Myocardial ... |
ORPHA:90064 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Neonatal Lupus Erythematosus |
|
Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Abnormal... |
ORPHA:398124 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... |
OMIM:601631 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Drug-Induced Lupus Erythematosus |
|
Anemia, Pericardial effusion, Elevated circulating creatine kinase concentration, Pericarditis, I... |
ORPHA:231111 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Anemia, Neutropenia, Jaundice, Lymphadenopathy, Increased circulating ferritin co... |
OMIM:603552 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Ventricular septal defect, Paresthesia, Cardiac arrest, Congestive... |
ORPHA:49827 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Generalized amyotrophy, Pallor, Failure to thrive, Hypertrophic cardiomyopathy, Lethargy, Ragged-... |
OMIM:613561 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy, Mucinous histiocytosis |
ORPHA:158025 |
Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Ventricular arrhythmia, Conjunctival icterus, Hepatomegal... |
ORPHA:57777 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly, Weight loss |
ORPHA:52416 |
Isolated Ectopia Lentis |
|
Cognitive impairment, Hypertension, Ectopia lentis, Cataract, Ectopia pupillae |
ORPHA:1885 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... |
OMIM:618052 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Ele... |
OMIM:604765 |
Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... |
OMIM:611875 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy |
ORPHA:60026 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... |
OMIM:613243 |
Short Qt Syndrome 1 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... |
OMIM:609620 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... |
OMIM:612422 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, Enlarged kidney, T-wave inversion, ST segment depression, Cong... |
OMIM:261740 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... |
OMIM:615234 |
Glycogen Storage Disease Xv |
|
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Cardiomyocyte hy... |
OMIM:613507 |
Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Congestive heart failure, Abnormal left ventricle morphology, Arrhythmia, Abnorm... |
ORPHA:1055 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Gait disturbance |
ORPHA:436141 |
Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Decreased cervical ... |
ORPHA:98855 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Short Qt Syndrome 7 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation |
OMIM:620231 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Hepatic steatosis, Increased blood urea nitrogen, Failure to thrive, Hepatomegaly, ... |
OMIM:617872 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... |
OMIM:618849 |
Trimethylaminuria |
|
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly |
OMIM:602079 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Double outlet right ventricle, T lymphocytopenia, Abnormal B cell morphology, Atrial septal defec... |
OMIM:618223 |
Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Myofibrillar Myopathy 10 |
|
Knee flexion contracture, Increased QRS voltage, Elbow flexion contracture, Left ventricular hype... |
OMIM:619040 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Decreased cervical ... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Decreased cervical ... |
ORPHA:98853 |
Spinal Muscular Atrophy, Type I |
|
Spinal muscular atrophy, Ventricular septal defect, Atrial septal defect, Proximal amyotrophy, Pr... |
OMIM:253300 |
Glut1 Deficiency Syndrome 2 |
|
Reduced haptoglobin level, Hemolytic anemia, Choreoathetosis, Reticulocytosis, Tremor, Irritabili... |
OMIM:612126 |
Methylcobalamin Deficiency Type Cble |
|
Abnormality of the liver, Hyperhomocystinemia, Hypertension, Hypomethioninemia, Pancytopenia, Fai... |
ORPHA:2169 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Ataxia, Pallor |
ORPHA:71518 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Failure to thrive, Tetralogy of Fallot,... |
OMIM:601127 |
Congenital Toxoplasmosis |
|
Anemia, Cognitive impairment, Ascites, Jaundice, Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thr... |
ORPHA:858 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Majeed Syndrome |
|
Flexion contracture, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume... |
OMIM:609628 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Syncope, Large for gestational age, Pallor, Hypertrophic cardiomyopathy, Palpitations, Lethargy, ... |
ORPHA:276556 |
Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... |
OMIM:615996 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Decreased cervical ... |
ORPHA:98863 |
Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Lef... |
ORPHA:85451 |
Alpha-Thalassemia |
|
Anemia, Cognitive impairment, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal... |
ORPHA:846 |
Cyclic Vomiting Syndrome |
|
Pallor, Lethargy, Ataxia, Cardiomyopathy |
OMIM:500007 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Extramedullary hematopoiesis, Hepatocellular carcinoma, Hepatosp... |
ORPHA:231226 |
Eisenmenger Syndrome |
|
Atrioventricular canal defect, Brain abscess, Aortopulmonary window, Ventricular arrhythmia, Supr... |
ORPHA:97214 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Proximal muscle weakness in lower limbs, Fatty replacement of skeletal muscle, Obesity, Distal lo... |
ORPHA:171706 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac septum morphology |
ORPHA:3319 |
Distal Monosomy 6P |
|
Posterior embryotoxon, Self-injurious behavior, Hypoplasia of the iris, Anterior synechiae of the... |
ORPHA:96125 |
Immunodeficiency 104 |
|
T lymphocytopenia, Lymphadenopathy, Failure to thrive secondary to recurrent infections, Hepatome... |
OMIM:608971 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... |
OMIM:601494 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Inability to walk, Ataxia, Obesity, Broad-based gait, Waddling gait |
OMIM:616756 |
Myopathic Ehlers-Danlos Syndrome |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Foot joint contracture,... |
ORPHA:536516 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Ch... |
ORPHA:848 |
Sandhoff Disease |
|
Motor deterioration, Congestive heart failure, Failure to thrive, Hepatomegaly, Splenomegaly, Pro... |
ORPHA:796 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly, Sple... |
ORPHA:231214 |
Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, Cholelithiasis, Cirrhosis, Abnormality of iron homeostasis, Abno... |
ORPHA:231222 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Jaundice, Pancytopenia, Hepatomegaly, Increased mean corpuscular volume, Th... |
OMIM:613839 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Syncope, Large for gestational age, Pallor, Hypertrophic cardiomyopathy, Palpitations, Lethargy, ... |
ORPHA:276575 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Retinal hemorrhage, Acute myeloid leukemia, Abnormal ... |
ORPHA:86839 |
Hemochromatosis, Type 2B |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Congestive he... |
OMIM:613313 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... |
OMIM:607616 |
Brugada Syndrome 9 |
|
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation |
OMIM:616399 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Syncope, Large for gestational age, Pallor, Hypertrophic cardiomyopathy, Palpitations, Lethargy, ... |
ORPHA:276580 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Atria... |
OMIM:602482 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Hypoamylasemia, Impaired neutrophil chemotaxis, Bone marrow hypocellulari... |
ORPHA:811 |
Rheumatic Fever |
|
Endocarditis, Chorea, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal mitral valve... |
ORPHA:3099 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Microvesicular hepatic steatosis, Normochromic microcytic anemia, Dilated c... |
OMIM:610198 |
Brugada Syndrome 4 |
|
Shortened QT interval, Atrial fibrillation, Syncope |
OMIM:611876 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Hypocalcemi... |
OMIM:601005 |
X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Hypomimic face, Left ventricular hypertrophy, Gait disturbance, Dysmetria, Uns... |
ORPHA:93952 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume |
OMIM:620044 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Increased circulating ferritin concentration, Hemoph... |
OMIM:613101 |
Narcolepsy Type 1 |
|
Obesity, Syncope |
ORPHA:2073 |
Overhydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly, Myeloproliferative disorder, Eosi... |
OMIM:607685 |
Left Ventricular Noncompaction 1 |
|
Patent ductus arteriosus, Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia... |
OMIM:604169 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Abnormal heart morphology, Persistent ... |
ORPHA:1067 |
Muscular Dystrophy, Becker Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... |
OMIM:613179 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Autoi... |
OMIM:617514 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Increased circulating ferritin conce... |
OMIM:618963 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Ataxia, Impaired pain sensation, Loss of ambulation, Foot dorsiflexor weakness, Unsteady gait, Ob... |
OMIM:618124 |
Immunodeficiency 27A |
|
Anemia, Weight loss, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocyt... |
OMIM:209950 |
Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Failure to thrive, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymp... |
OMIM:269920 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Flexion contracture, Joint contracture, Elevated circulating creatine ... |
OMIM:160565 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hypertrophic cardiomyopathy... |
OMIM:613673 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly, Hepatomegaly |
OMIM:619175 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Congenital hemolytic anemia, Unconjugated hyperbilirubinemia, Elevated tran... |
ORPHA:766 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Somatic sensory dysfunction, Telangiectasia, Muscular dystro... |
ORPHA:459033 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Hypertension, Diffuse alveolar hemo... |
OMIM:614034 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... |
ORPHA:75566 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pericardial effusion, Elevated circulating creatine kinase concentration, Hepatomegaly, Patent fo... |
ORPHA:26793 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Death... |
OMIM:614096 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Choreoathetosis, Pancreatitis, Failure to thrive, Hyperammonemia, Hepatomegaly, Thrombocy... |
ORPHA:79312 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular vo... |
OMIM:611590 |
Brugada Syndrome 7 |
|
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
Optic Atrophy 1 |
|
Ataxia, Pallor |
OMIM:165500 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Choreoathetosis, Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Weight loss, Hypophosphatemia, Hypercalcemia, Lipoma, Chondrocalcinosi... |
ORPHA:143 |
Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Hyperkalemia, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Increased... |
ORPHA:90044 |
Immunodeficiency 75 With Lymphoproliferation |
|
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... |
OMIM:619126 |
Scorpion Envenomation |
|
Myocarditis, Mydriasis, T-wave inversion, Cardiogenic shock, Hypokalemia, Prominent U wave, Bundl... |
ORPHA:466677 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... |
OMIM:237800 |
Atrial Septal Defect, Ostium Secundum Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... |
ORPHA:99103 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Impaired distal vibration sensation, Tip-toe gai... |
OMIM:604360 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Tremor, Hepatomegaly, Thrombocytopenia, Irritability, Dystonia, Splenomegaly |
OMIM:615010 |
Castleman Disease |
|
Anemia, Restrictive cardiomyopathy, Weight loss, Jaundice, Generalized lymphadenopathy, Decreased... |
ORPHA:160 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Unconjugated hyperbi... |
OMIM:618278 |
Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Anemia, Cerebral hemorrhage, Hypertension, Increased circulating ferritin concentr... |
OMIM:618886 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Decreased body weight, Increased blood urea nitrogen, Failure to thrive, Hyperam... |
OMIM:620085 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
Mu-Heavy Chain Disease |
|
Anemia, Weight loss, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100024 |
Primary Lateral Sclerosis, Juvenile |
|
Loss of ambulation, Spasticity of facial muscles, Spastic gait, Pallor |
OMIM:606353 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Hypophosphatemia, Hypercalcemia, Lipoma, Chondrocalcinosis, Shortened ... |
ORPHA:99880 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood... |
OMIM:613845 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Retinal hemorrhage, Ischemic stroke, Cerebral hemorrhage, Hemolytic anemia, Limb dystonia, Polyco... |
OMIM:175780 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Elevated circulating creatine kinase concentration |
ORPHA:101082 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Increased pulmonary capillary wedge pressure, Abn... |
ORPHA:97292 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Obesity, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Nemaline Myopathy 9 |
|
Nemaline bodies, Arthrogryposis multiplex congenita, Ventricular septal defect |
OMIM:615731 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval |
OMIM:220400 |
Recessive Mitochondrial Ataxia Syndrome |
|
Cognitive impairment, Increased serum pyruvate, ST segment elevation |
ORPHA:94125 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hyperlipidemia,... |
ORPHA:79477 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect, Gait ataxia |
OMIM:619717 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Hyperuricemia, Abnormality of the pancreas, Abnormality of the li... |
ORPHA:543 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Intention tremor, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Spl... |
OMIM:610539 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Prolonged neonatal jaundice, Transient ischemic attack, Microangiopathic hemolytic anemia, Jaundi... |
OMIM:274150 |
Aniridia 1 |
|
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... |
OMIM:106210 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Developmental glaucoma, Leukopenia, Ventricular septal defect, Reticulocy... |
ORPHA:124 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Lethargy, Tachycardia, Increased body weight |
ORPHA:276608 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Generalized lymphadenopathy, Hepatosplenomegaly, Autoimmune thrombocytope... |
OMIM:615559 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Autoimmune Hypoparathyroidism |
|
Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Anxiety, Ventricular arrhythmia, Abnormal... |
ORPHA:36913 |
Cinca Syndrome |
|
Anemia, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein con... |
OMIM:607115 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Increased m... |
OMIM:277410 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy, Astigmatism, Mitral regurgitation, Increased m... |
ORPHA:261250 |
Fish-Eye Disease |
|
Angina pectoris, Lymphadenopathy, Decreased HDL cholesterol concentration, Corneal opacity, Hepat... |
ORPHA:79292 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Epistaxis, Hepatomegaly, Extramedulla... |
OMIM:612840 |
Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Neutropenia, Secundum atrial septal defect, Macrocytic anemia, Increas... |
OMIM:612562 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Cellulitis, Lymphadenopathy, Dec... |
OMIM:615513 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anemia, Reticulocytopenia, Dysplastic erythropoesis, Decreased transferrin saturation, Anisopoiki... |
ORPHA:300298 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicular ... |
OMIM:614470 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia,... |
OMIM:308240 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Encephalopathy Due To Prosaposin Deficiency |
|
Dystonia, Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Increased serum iron, Dilated cardiomyopathy, Congestive heart failure, Increased circ... |
OMIM:602390 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Failure to thrive, Hepatomegaly, Extramedullary hematopoiesi... |
OMIM:615285 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Joint contracture, Cataract, Elevated circulating creatine kinase concentr... |
OMIM:615351 |
Neuraminidase Deficiency |
|
Inguinal hernia, Cataract, Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Ascites, Vacuolate... |
OMIM:256550 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Long Qt Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... |
OMIM:613688 |
Catel-Manzke Syndrome |
|
Camptodactyly of finger, Failure to thrive, Ventricular septal defect, Atrial septal defect |
ORPHA:1388 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Hernia, Corneal opacity, Abnormality of the tonsils, Hepatomegaly, Abnormal heart v... |
ORPHA:93476 |
Mehmo Syndrome |
|
Gait ataxia, Inability to walk, Small for gestational age, Difficulty walking, Obesity |
OMIM:300148 |
Spontaneous Periodic Hypothermia |
|
Pallor, Gait disturbance, Ataxia, Arrhythmia |
ORPHA:29822 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Syncope, Large for gestational age, Pallor, Palpitations, Lethargy, Ta... |
ORPHA:324575 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Enamel hypoplasia, Scarring alopecia of scalp, Astigmatism, Cataract, Ectopia pupillae |
OMIM:618727 |
Mast Cell Sarcoma |
|
Weight loss, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Rhabdoid Tumor |
|
Anemia, Weight loss, Neoplasm of the liver, Hypertension, Internal hemorrhage, Lymphadenopathy, H... |
ORPHA:69077 |
Schnitzler Syndrome |
|
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly, Vasculitis |
ORPHA:37748 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity, Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity, Hypertension |
OMIM:605572 |
Hemochromatosis, Type 1 |
|
Splenomegaly, Telangiectasia, Cirrhosis, Hepatocellular carcinoma, Congestive heart failure, Incr... |
OMIM:235200 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Cognitive impairment, Microangiopathic hemolytic anemia, Hypertension, Reticulocytosis, Increased... |
OMIM:235400 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Congestive heart failure, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... |
OMIM:611819 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Hypertension, Increased blood urea nitrogen, Episodic hemolytic anemia, Hypercal... |
ORPHA:251004 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Leishmaniasis |
|
Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, H... |
ORPHA:507 |
Galactose Epimerase Deficiency |
|
Weight loss, Jaundice, Cataract, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Astigmatism, He... |
OMIM:617713 |
Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Multiple lipomas, Inability to walk, Dysdiadochok... |
OMIM:617675 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Flexion contracture, Elevated circulating creatine kinase concentration, Hepatic steatosis, Tachy... |
OMIM:613327 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Ventricular septal defect, Torticollis, Atrial septal defect, Pulmonic ... |
OMIM:249670 |
Leber Congenital Amaurosis 14 |
|
Falls, Pallor |
OMIM:613341 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... |
OMIM:613011 |
Multiple Endocrine Neoplasia Type 1 |
|
Thymoma, Multiple lipomas, Weight loss, Neoplasm of the pancreas, Hypertension, Insulinoma, Hyper... |
ORPHA:652 |
Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Cirrhosis, Anemia, Hepatic necrosis, Lymphopenia, Bone marrow hypocellularity, Increa... |
OMIM:127550 |
Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... |
OMIM:618782 |
Hec Syndrome |
|
Abnormal pupil morphology, Endocardial fibroelastosis, Developmental cataract, Arrhythmia, Cardio... |
ORPHA:2119 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Death in infancy, Atrial septal defe... |
ORPHA:1354 |
Proteus-Like Syndrome |
|
Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia iridis, Shagreen patch, Thymus... |
ORPHA:2969 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Failure to thrive, Increase... |
OMIM:619868 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Obesity, Hypertension |
OMIM:608320 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Brain abscess, Weight loss, ... |
ORPHA:54251 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Fa... |
OMIM:618534 |
Nathalie Syndrome |
|
Cataract, Abnormal EKG |
OMIM:255990 |
Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... |
OMIM:613980 |
Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, Umbilical hernia |
OMIM:615297 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Syncope, Arrhythmia, Iron deficiency anemia, Prolonged QTc interval, Ventricu... |
ORPHA:90647 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
Progressive Familial Intrahepatic Cholestasis |
|
Cognitive impairment, Jaundice, Failure to thrive, Cholestasis, Hepatomegaly, Hypocalcemia, Splen... |
ORPHA:172 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... |
OMIM:206100 |
Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Lens subluxation, Ectopia pupillae, Corneal opacity, Hypotriglyceridemia |
ORPHA:85167 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Obesity, Atrial septal defect, Dry skin, Umbilical hernia |
ORPHA:1035 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Heart murmur, Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnormali... |
OMIM:615418 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... |
OMIM:267700 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Hepatomegaly, Thrombocytopenia, ... |
OMIM:133180 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Coombs-positive... |
OMIM:601859 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Small for gestational age, Atrial septal defect... |
OMIM:620135 |
Gaucher Disease Type 2 |
|
Flexion contracture, Cardiac arrest, Hepatomegaly, Dystonia, Splenomegaly |
ORPHA:77260 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pericarditis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatomegal... |
ORPHA:85414 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... |
OMIM:612926 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Pericardial effusion, Small for gestational age, Hypertrophic cardiomyopathy, Br... |
OMIM:614702 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy, Obesity |
ORPHA:99976 |
Long Qt Syndrome 6 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... |
OMIM:613693 |
Cockayne Syndrome Type 1 |
|
Conjunctivitis, Enamel hypoplasia, Anemia, Foot joint contracture, Scarring, Hypertension, Uveiti... |
ORPHA:90321 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Coproporphyria, Hereditary |
|
Splenomegaly, Jaundice, Hypertension, Hepatomegaly, Anxiety, Tachycardia |
OMIM:121300 |
Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... |
OMIM:612924 |
Gitelman Syndrome |
|
Abnormal T-wave, Chondrocalcinosis, Pericardial effusion, Hypokalemia, Prominent U wave, Low-to-n... |
ORPHA:358 |
Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Obesity |
ORPHA:88643 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Hodgkin Lymphoma |
|
Weight loss, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:98293 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni... |
OMIM:300853 |
Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... |
OMIM:612925 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatosplenomegaly, Hepatic steatosis, Lipodystrophy, Genera... |
OMIM:612526 |
Syndromic X-Linked Intellectual Disability 7 |
|
Obesity |
ORPHA:85274 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly, Leukocytosis |
OMIM:611762 |
Long Qt Syndrome 14 |
|
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... |
OMIM:616247 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Failure to thrive, Hepatomegaly, Hypertriglyceridemia, Splen... |
OMIM:614480 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Death in infancy |
OMIM:614876 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Hyperammonemia, Ventr... |
OMIM:600649 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Inguinal hernia, Obesity |
OMIM:300209 |
Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Galactosemia Iii |
|
Hypergalactosemia, Jaundice, Failure to thrive, Hepatomegaly, Splenomegaly |
OMIM:230350 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophilia, Hepatomegaly, Impaired oxid... |
OMIM:226990 |
Tularemia |
|
Conjunctivitis, Anemia, Brain abscess, Abnormal nasopharyngeal adenoid morphology, Cutaneous absc... |
ORPHA:3392 |
Megabladder, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:618719 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Dilated Cardiomyopathy With Ataxia |
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Microvesicular hepatic steatosis, Normochromic microcytic anemia, Dilated cardiomyopathy, Hypochr... |
ORPHA:66634 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Griscelli Syndrome |
|
Leukopenia, Abnormal circulating lipid concentration, Hepatitis, Iris hypopigmentation, Jaundice,... |
ORPHA:381 |
Danon Disease |
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Second degree atrioventricular block, Increased QRS voltage, Cognitive impairment, Severely reduc... |
OMIM:300257 |
Congenital Heart Defects, Multiple Types, 4 |
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Atrioventricular canal defect, Ventricular septal defect, Hypoplastic left heart, Aortic valve st... |
OMIM:615779 |
Fetal Minoxidil Syndrome |
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Ventricular septal defect, Umbilical hernia |
ORPHA:1918 |
Atrial Fibrillation, Familial, 3 |
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Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... |
OMIM:607554 |
Coronary Arterial Fistula |
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Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... |
ORPHA:2041 |
Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... |
ORPHA:563 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Cardiomyopathy, Familial Hypertrophic, 26 |
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Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Childhood-onset truncal obesity, Obesity, Increased adipose tissue, Hypertension |
ORPHA:71529 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
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Hyperbilirubinemia, Jaundice, Increased serum bile acid concentration, Hepatomegaly, Cholestasis,... |
OMIM:620010 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Left ventricular outflow tract obstruction, Biventricular hypertrophy, Hepatomegaly, Ventricular ... |
ORPHA:860 |
Thalassemia, Beta+, Silent Allele |
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Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Follicular Lymphoma |
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Weight loss, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenom... |
ORPHA:545 |
Atrial Fibrillation, Familial, 14 |
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Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation |
OMIM:615378 |
Niemann-Pick Disease, Type A |
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Sea-blue histiocytosis, Irritability, Failure to thrive, Lymphadenopathy, Bone-marrow foam cells,... |
OMIM:257200 |
Peripheral Cone Dystrophy |
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Pallor |
OMIM:609021 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
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Obesity, Hernia of the abdominal wall |
ORPHA:3055 |
Carnitine Deficiency, Systemic Primary |
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Endocardial fibroelastosis, Microvesicular hepatic steatosis, Decreased plasma carnitine, Congest... |
OMIM:212140 |
Microphthalmia, Isolated, With Coloboma 10 |
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Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Autoimmune Hemolytic Anemia, Cold Type |
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Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Long Qt Syndrome 1 |
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Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... |
OMIM:192500 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
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Ataxia, Abnormality of the musculature of the lower limbs, Difficulty walking, Unsteady gait, Obe... |
ORPHA:464282 |
Aggressive Systemic Mastocytosis |
|
Hypotension, Anemia, Weight loss, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopath... |
ORPHA:98850 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Neutropenia, Hepatitis, Lymphadenopathy, Increased ci... |
ORPHA:158061 |
Immunodeficiency 7 |
|
Hypereosinophilia, Failure to thrive, Lymphadenopathy, Autoimmune hemolytic anemia, Hepatomegaly,... |
OMIM:615387 |
Rafiq Syndrome |
|
Flexion contracture, Cutis laxa, Ataxia, Truncal obesity, Obesity |
OMIM:614202 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Lymphoproliferative Syndrome 2 |
|
Uveitis, Hepatosplenomegaly, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascit... |
OMIM:615122 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss, Intracranial hemorrhage, Lymphadenopathy, Abnormal neutrophil count, Bone marrow hyp... |
ORPHA:3226 |
Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Ventricular septal defect, Small for gestational age, Atrial septal defect, Bilia... |
OMIM:194190 |
Mcleod Syndrome |
|
Reduced haptoglobin level, Acanthocytosis, Dilated cardiomyopathy, Elevated circulating creatine ... |
OMIM:300842 |
Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Abnormal EKG, Syncope, Increased blood urea nitrogen, Orthostatic hypotension, Elevated c... |
ORPHA:230 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... |
OMIM:615631 |
Acute Myelomonocytic Leukemia |
|
Weight loss, Pallor |
ORPHA:517 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Immunodeficiency 91 And Hyperinflammation |
|
Pulmonary hemorrhage, Neutrophilia, Hepatosplenomegaly, Failure to thrive, Lymphadenopathy, Hemop... |
OMIM:619644 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Mulibrey Nanism |
|
Enamel hypoplasia, Pericardial constriction, Ascites, Congestive heart failure, Myocardial fibros... |
OMIM:253250 |
Congenital Myopathy 9A |
|
Obesity, Death in infancy, Akinesia, EMG: myopathic abnormalities |
OMIM:618822 |
Autoinflammation With Infantile Enterocolitis |
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Anemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Pancytopenia, Failure to ... |
OMIM:616050 |
Congenital Disorder Of Glycosylation, Type Ik |
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Flexion contracture, Hepatomegaly, Joint contracture, Splenomegaly, Cardiomyopathy |
OMIM:608540 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cirrhosis, Abnormality of iron homeostasis, Weight loss, Elevated jugular venous pressure, Elevat... |
ORPHA:465508 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Arrhythmia, Gait disturbance, Truncal obesity |
ORPHA:2928 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... |
OMIM:602450 |
Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... |
ORPHA:1329 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Diastasis recti, Ventricular septal defect, Small for gestational age, Large for gestational age,... |
ORPHA:254534 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology, Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Mucopolysaccharidosis, Type Iiib |
|
Aggressive behavior, Asymmetric septal hypertrophy, Progressive neurologic deterioration, Hepatom... |
OMIM:252920 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cirrhosis, Cholestatic liver disease, Decreased circulating ceruloplasmin concentration, Elevated... |
OMIM:616828 |
Primary Myelofibrosis |
|
Anemia, Cachexia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis,... |
ORPHA:824 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Leigh Syndrome With Leukodystrophy |
|
Failure to thrive, Progressive cerebellar ataxia, Ventricular septal defect, Hypertrophic cardiom... |
ORPHA:255241 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Conjunctival telangiectasia, Increased proportion of gamma-del... |
OMIM:619774 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Ocular albinism, Spontaneous, recurrent epistaxis, Iris hypopigmentation, Jau... |
OMIM:214500 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased C-peptide level, Increased circulating free fatty acid level, Hepatic necrosis, Decreas... |
ORPHA:71212 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Abnormal liver parenchyma morphology, Cogn... |
ORPHA:64743 |
Polycythemia Vera |
|
Increased red blood cell mass, Cerebral ischemia, Cerebral hemorrhage, Increased hematocrit, Thro... |
OMIM:263300 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Sickle Cell Disease |
|
Cholelithiasis, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Hypertension, Incre... |
OMIM:603903 |
Al Amyloidosis |
|
Anemia, Howell-Jolly bodies, Abnormality of the liver, Reduced left ventricular ejection fraction... |
ORPHA:85443 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Jaundice, Portal fib... |
OMIM:616278 |
Baralle-Macken Syndrome |
|
Obesity, Striae distensae, Inability to walk |
OMIM:619255 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Irritability, Pancytopenia, Hepatospleno... |
OMIM:603553 |
Glycogen Storage Disease Ii |
|
Subarachnoid hemorrhage, Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome,... |
OMIM:232300 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia |
ORPHA:157991 |
Cinca Syndrome |
|
Anemia, Abnormal granulocyte morphology, Uveitis, Abnormality of neutrophils, Lymphadenopathy, El... |
ORPHA:1451 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Lymphadenopathy, Increased proportion of memory T cells, Hepatosplenomegaly |
OMIM:618982 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphade... |
OMIM:607594 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... |
ORPHA:45452 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Myxomatous mitral valve ... |
OMIM:614980 |
Attrv30M Amyloidosis |
|
Weight loss, Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... |
OMIM:180500 |
Tangier Disease |
|
Left ventricular hypertrophy, Myocardial infarction, Decreased HDL cholesterol concentration, Hep... |
OMIM:205400 |
Congenital Rubella Syndrome |
|
Anemia, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Jaundice, Atrial septal defect... |
ORPHA:290 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Ectopia pupillae, Sclerocornea, Cataract, Microcornea |
OMIM:615877 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Failure to thrive, Lymphadenopathy, Autoimmune hemolytic anemia, Hepatom... |
OMIM:618495 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutropenia, Hyperbilirubinemi... |
ORPHA:158057 |
Immunodeficiency 48 |
|
Failure to thrive, Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... |
OMIM:615441 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Conjunctivitis, Anemia, Flexion contracture, Lymphopenia, Failure to thrive, Lymphadenopathy, Lip... |
OMIM:617591 |
Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Hepatitis, Neutrophilia, Generalized lymphadenopathy, P... |
ORPHA:829 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... |
ORPHA:3092 |
Alagille Syndrome |
|
Abnormal pupil morphology, Ventricular septal defect, Hypertension, Atrial septal defect, Reduced... |
ORPHA:52 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Death in childhood, Ventricular septal defect |
OMIM:613759 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Lymphadenopathy, Mitral regurgitation, Elevated circulating C-reactive protei... |
OMIM:619750 |
Noonan Syndrome 8 |
|
Patent ductus arteriosus, Palmoplantar cutis laxa, Ventricular septal defect, Left ventricular hy... |
OMIM:615355 |
Alexander Disease |
|
Microcoria, Apathy |
OMIM:203450 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Macroglossia, Broad-based gait, Omphalocele, Dry skin, Increased body ... |
OMIM:614450 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... |
ORPHA:98848 |
Cyanosis, Transient Neonatal |
|
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia |
OMIM:613977 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Obesity, Abnormal heart morphology |
ORPHA:254525 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyo... |
OMIM:619051 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Failure to thrive, Lymphadenopathy, Hypoprot... |
OMIM:603554 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Obesity, Failure to thrive in infancy |
OMIM:613670 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Wrist flexion contracture, Flexion contracture, Shuffling gait, Spastic gait, Choreoathetosis, At... |
OMIM:300055 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Hepatic fibrosis, Anemia, Dilated cardiomyopathy, Congestive heart failure, Elevat... |
OMIM:615895 |
Short Syndrome |
|
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Weight loss, Hypoplasia of the ir... |
ORPHA:3163 |
Cholestasis-Lymphedema Syndrome |
|
Multiple lipomas, Cirrhosis, Jaundice, Acholic stools, Abnormality of the lymphatic system, Bilia... |
ORPHA:1414 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Mydriasis, Hyperbilirubinemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenome... |
OMIM:259720 |
Felty Syndrome |
|
Anemia, Weight loss, Cellulitis, Pericarditis, Lymphadenopathy, Bone marrow hypocellularity, Hepa... |
ORPHA:47612 |
Cln3 Disease |
|
Aggressive behavior, Memory impairment, T-wave inversion, Left ventricular hypertrophy, Dementia,... |
ORPHA:228346 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom... |
OMIM:616276 |
X-Linked Sideroblastic Anemia |
|
Anemia, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Obesity |
OMIM:615985 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hepatome... |
OMIM:300635 |
Congenital Sialidosis Type 2 |
|
Telangiectasia, Abnormal EKG, Developmental cataract, Hepatosplenomegaly, Inguinal hernia, Catara... |
ORPHA:93400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Hyperalaninemia, Failure to thrive, Increased serum pyruvate, Hyperprolinemia, Macrocytic anemia,... |
OMIM:619046 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... |
OMIM:615373 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Failure to thrive, Ab... |
ORPHA:277 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis |
OMIM:269600 |
Gray Platelet Syndrome |
|
Epistaxis, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Hyperammonemia, Ascites, Splen... |
OMIM:271500 |
|