Lipomatosis, Multiple Symmetric |
|
Lipoma |
OMIM:151800 |
Lipomatosis, Multiple |
|
Multiple lipomas |
OMIM:151900 |
Polycythemia Vera |
|
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... |
OMIM:263300 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Myocardia... |
OMIM:133100 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog... |
ORPHA:70589 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Ground-glass opacification, Respiratory fa... |
ORPHA:2302 |
Pulmonary Blastoma |
|
Pulmonary infiltrates, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea |
ORPHA:64741 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Cyanosis, Intraalve... |
OMIM:265120 |
Erythrocytosis, Familial, 2 |
|
Elevated circulating erythropoietin concentration, Stroke, Increased hematocrit, Cerebral hemorrh... |
OMIM:263400 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Dyspnea, Ground-glass opacification, Cough, Nodular pattern on pulmonary HRCT |
ORPHA:60026 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Refractory anemia, Leukopenia, Monocytosis, Acute myeloid leukemia |
OMIM:616871 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... |
OMIM:614470 |
Immunodeficiency 95 |
|
Respiratory distress, Ground-glass opacification, Recurrent viral upper respiratory tract infecti... |
OMIM:619773 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... |
OMIM:607482 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Neonatal respiratory dis... |
OMIM:615294 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Pulmonary edema, Tachypnea, Atelectasis, Neonatal respiratory distress, Dys... |
OMIM:267450 |
Mucus Inspissation Of Respiratory Tract |
|
Chronic pulmonary obstruction, Atelectasis, Chronic sinusitis, Bronchiectasis, Recurrent respirat... |
OMIM:253240 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis, Recurrent resp... |
OMIM:619466 |
Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... |
OMIM:611880 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... |
OMIM:613172 |
Ciliary Dyskinesia, Primary, 29 |
|
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent respirat... |
OMIM:615872 |
Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Pulmonary infiltrates, Subpleural honeycombing, Nodular pattern o... |
ORPHA:79126 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
Tempi Syndrome |
|
Abnormality of the pulmonary vasculature, Increased hematocrit, Polycythemia, Intracranial hemorr... |
ORPHA:284227 |
Cardiomyopathy, Dilated, 1L |
|
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... |
OMIM:606685 |
Cholesterol Pneumonia |
|
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia |
OMIM:215030 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Recurrent upper respiratory tract infe... |
ORPHA:60032 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract in... |
OMIM:263000 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Myofiber disarray, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricu... |
OMIM:613255 |
Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Cyanosis, Tachypnea, Atelectasis, Respiratory tract infection, Pneumonia, Hypoxe... |
ORPHA:70587 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... |
OMIM:601493 |
Pericardial Effusion, Chronic |
|
Polycythemia, Constrictive pericarditis |
OMIM:260900 |
Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Atelect... |
OMIM:615067 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Familial Nasal Acilia |
|
Respiratory distress, Recurrent upper respiratory tract infections, Abnormal respiratory motile c... |
ORPHA:922 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... |
OMIM:605362 |
Scimitar Syndrome |
|
Tricuspid atresia, Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous retu... |
ORPHA:185 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
Ciliary Dyskinesia, Primary, 33 |
|
Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Atelectasis, Recurrent bro... |
OMIM:616726 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Pulmonary infiltrates, Respiratory insufficiency, Abnormal pleura morphology, Cough, Restrictive ... |
ORPHA:724 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Atelectasis, Abnormal pulmonary ... |
ORPHA:70588 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Nonproductive cough, Crackles, Generalized abnormality of skin, Parenchymal consolidation... |
ORPHA:2902 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Oxygen desaturation on exertion, Asthma, Pulmonary infiltrates, Hypoxemia, ... |
OMIM:610978 |
Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Death in childhood, Respiratory failure, Recurrent respiratory infections |
OMIM:253300 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure |
OMIM:611879 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin, Epistaxis |
ORPHA:90042 |
Atrial Standstill |
|
Abnormal heart morphology, Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpita... |
ORPHA:1344 |
Left Ventricular Noncompaction 8 |
|
Mitral regurgitation, Left ventricular noncompaction, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... |
ORPHA:79127 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... |
OMIM:616749 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Airway obstruction, Reduced FEV1/FVC ratio, Bronc... |
ORPHA:1303 |
Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613286 |
Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613881 |
Cardiomyopathy, Dilated, 1Ee |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613252 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia, Respiratory failure |
OMIM:619887 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Sudd... |
OMIM:604169 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:604765 |
Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Wheezing, Bronchitis, Atelectasis, Recurrent pneumonia, Pneumonia, Upp... |
ORPHA:3348 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure |
OMIM:192600 |
Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia |
OMIM:222800 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... |
ORPHA:860 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Left ventricular n... |
OMIM:616249 |
Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613694 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... |
OMIM:608751 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Leukocytosis |
ORPHA:168621 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
Pneumocystosis |
|
Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Interstitial pneumonitis, Respiratory i... |
ORPHA:723 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Cough, Ground... |
ORPHA:1302 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis, Chronic sinusitis |
OMIM:300455 |
Sudden Cardiac Failure, Infantile |
|
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617182 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function |
ORPHA:217622 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia |
ORPHA:2688 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Patent ductus arteriosus, Abnormal tricuspid valve morphology, Maternal diabetes, Pulmonary arter... |
ORPHA:1208 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Cardiac Diverticulum |
|
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... |
ORPHA:1686 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, Pneumonia, Restrictive ... |
OMIM:610910 |
Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Coronary artery aneurysm, Cardiomegaly, Abnormal heart mo... |
ORPHA:2041 |
Interstitial Lung Disease 1 |
|
Interlobular septal thickening, Crackles, Cough, Decreased DLCO, Ground-glass opacification, Intr... |
OMIM:619611 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Dyspnea, Upper airway obstruction, Respiratory distress |
ORPHA:141152 |
Cardiomyopathy, Dilated, 1Kk |
|
Mitral regurgitation, Left ventricular hypertrophy, Increased left ventricular end-diastolic volu... |
OMIM:615248 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Leukocytosis, Nonproductive cough, Pleural empyema, Leukopeni... |
ORPHA:36238 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613697 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Cardiomyopathy, Dilated, 1K |
|
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure |
OMIM:605582 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... |
OMIM:616201 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Pulmonary hemorrha... |
OMIM:619644 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate aminotransferase conce... |
OMIM:619048 |
Cardiomyopathy, Dilated, 1Bb |
|
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:612877 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,... |
ORPHA:2032 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617173 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... |
OMIM:614022 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... |
ORPHA:99105 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... |
OMIM:613251 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure |
ORPHA:871 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Perimembranous ve... |
OMIM:618782 |
Emphysema, Hereditary Pulmonary |
|
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema |
OMIM:130700 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... |
OMIM:614370 |
Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
Acute Lung Injury |
|
Respiratory distress, Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Tachypne... |
ORPHA:178320 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... |
ORPHA:90117 |
Lethal Congenital Contracture Syndrome 3 |
|
Respiratory insufficiency, Neonatal death |
OMIM:611369 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Resp... |
ORPHA:264675 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... |
OMIM:618195 |
Trimethylaminuria |
|
Splenomegaly, Tachycardia, Recurrent pneumonia, Neutropenia, Hypertension, Anemia |
OMIM:602079 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Hypoplastic right heart, Pulmonary artery atresia |
OMIM:265150 |
Larynx Atresia |
|
Respiratory insufficiency, Recurrent respiratory infections |
ORPHA:1202 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal respiratory system physiology, Abnormal pleura morphology, Cough, ... |
ORPHA:50251 |
Tracheopathia Osteoplastica |
|
Dyspnea, Wheezing, Recurrent pneumonia, Cough |
OMIM:189961 |
Loeffler Endocarditis |
|
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... |
ORPHA:75566 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cor triatriatum, Splenomegaly, Erythroid hypoplasia, Recurrent lower respiratory tr... |
OMIM:612541 |
Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Abnormality of the liver, Congestive heart failure |
ORPHA:132 |
Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular hypertrophy, Eleva... |
ORPHA:217607 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Congestive heart failure |
OMIM:301021 |
Bronchogenic Cyst |
|
Abnormal pleura morphology, Cough, Atelectasis, Abnormal pulmonary thoracic imaging finding, Pneu... |
ORPHA:2357 |
Duodenal Neuroendocrine Tumor |
|
Melena, Tricuspid stenosis, Intestinal carcinoid, Extrahepatic cholestasis, Right ventricular fai... |
ORPHA:100076 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... |
OMIM:234810 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Leukocytosis, Absent ankle pulse, Myocardial infarction, Abnormalit... |
ORPHA:90064 |
Thrombocythemia 3 |
|
Thrombocytosis, Ischemic stroke |
OMIM:614521 |
Pulmonary Capillary Hemangiomatosis |
|
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Cyanosis, Elevated pulmon... |
ORPHA:199241 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Right aortic arch, Dextrotransposition of the great arteries, Pulm... |
OMIM:613751 |
Pulmonary Hemosiderosis |
|
Transient pulmonary infiltrates, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, ... |
OMIM:178550 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea |
OMIM:611722 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Exertional dyspnea, Atelectasis, Pulmonary fibrosis |
ORPHA:254361 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Reticulocytosis, Erythroid hyperplasia, Splenomegaly |
OMIM:237800 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... |
OMIM:607450 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... |
OMIM:618052 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Myofiber disarray, M... |
OMIM:619897 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary infiltrates, Hypoxemia, Abnormal pulmonary interstitial morphology, Pulmonary arterial ... |
OMIM:612387 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... |
OMIM:619747 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Respiratory failure |
OMIM:208081 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Cyanosis, Reduced forced... |
ORPHA:91359 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Hypogonadotropic hypogonadism, Mitral regurgitation, Pulmonary ins... |
ORPHA:2326 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Intraalveolar phospholipid accumulation, Reduced ... |
OMIM:300770 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... |
ORPHA:1345 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Arrhythmia, Dilated cardiom... |
OMIM:602390 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hypogonad... |
OMIM:613313 |
Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure |
OMIM:614672 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea, Death in infancy, Cyanotic episode |
OMIM:610992 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular hypertrophy, Pulmonary aterial intimal fibrosis... |
OMIM:178600 |
Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis |
OMIM:219400 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Maternal ... |
ORPHA:45452 |
Laryngotracheoesophageal Cleft |
|
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor, Recurrent respirato... |
ORPHA:2004 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis, Congestive heart fai... |
OMIM:618234 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Idiopathic Pulmonary Hemosiderosis |
|
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Crackles, Reticular pattern on pulmonar... |
ORPHA:99931 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Cyanosis, Crackles, Intraalveolar phospholipid accumulation, Decreased DLCO... |
ORPHA:747 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... |
ORPHA:60033 |
Congenital Pulmonary Airway Malformation |
|
Respiratory insufficiency, Abnormal pleura morphology |
ORPHA:2444 |
Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... |
OMIM:608647 |
Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Gro... |
ORPHA:133 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... |
ORPHA:66529 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Foam cells with lamellar inclusion bodies, Ab... |
OMIM:607616 |
Gaisböck Syndrome |
|
Angina pectoris, Peripheral arterial stenosis, Stroke, Increased hematocrit, Hypovolemia, Elevate... |
ORPHA:90041 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pulmonary opa... |
ORPHA:411703 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
Apnea, Central Sleep |
|
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration |
OMIM:207720 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary infiltrates, Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic... |
ORPHA:217563 |
Primary Ciliary Dyskinesia |
|
Airway obstruction, Anomalous pulmonary venous return, Wheezing, Chronic rhinitis, Pulmonary situ... |
ORPHA:244 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618328 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Bilateral lung agenesis, Patent ductus arteriosus, Neonatal death |
OMIM:601612 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... |
OMIM:617047 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Stroke, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Resp... |
ORPHA:444463 |
Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Respiratory distress, Recurrent respiratory infections |
OMIM:615993 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Hyp... |
ORPHA:848 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Arrhythmia, Cardiomyopathy, Congestive heart failure |
OMIM:616198 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Arrhythmia, Bradycardia |
OMIM:614302 |
Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Chronic pulmonary obstruction, Chronic bronchitis, Recurrent respirator... |
OMIM:618986 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... |
ORPHA:486 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Monocytosis |
OMIM:610680 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress |
OMIM:619057 |
Rh Deficiency Syndrome |
|
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia, Macrocytic anemia, Hem... |
ORPHA:71275 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
Atrial Septal Defect, Ostium Primum Type |
|
Airway obstruction, Systolic heart murmur, Left atrial enlargement, Right bundle branch block, At... |
ORPHA:99106 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Myocardial infarction, Hypertension, Hepatic steatosis, Congestive hea... |
OMIM:615703 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Splenomegaly |
OMIM:179700 |
Atransferrinemia |
|
Abnormality of the liver, Congestive heart failure |
OMIM:209300 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Congestive ... |
ORPHA:1055 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Endocardial fibroelastosis, Anterior hypopituitarism, Congestive hear... |
ORPHA:2022 |
Poems Syndrome |
|
Abnormality of the endocrine system, Polycythemia, Increased circulating prolactin concentration,... |
ORPHA:2905 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal blood gas level, Pulmonary infiltrates, Pulmonary edema, Pneumonia, Hypoxemia, Dyspnea, ... |
ORPHA:70578 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary ... |
OMIM:616414 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... |
OMIM:606217 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Left bundle branch block, Congestive heart failure, Myofiber disarray, ... |
OMIM:115197 |
Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Cough, Decreased DLCO, Usual interstitial pneumonia, Dyspnea, Exertional... |
OMIM:178500 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Ventricular septal defect, Ab... |
ORPHA:216694 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... |
ORPHA:95430 |
Avian Influenza |
|
Respiratory distress, Pulmonary infiltrates, Miscarriage, Hypoxemia, Nonproductive cough, Tachypn... |
ORPHA:454836 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Hypoxemia, Cyanosis, Tachypnea, Pulmonary hypoplasia, Abnormal breath sound, Restr... |
ORPHA:2257 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... |
ORPHA:2414 |
Paragangliomas 6 |
|
Hypertension, Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Heart murmur, Ventricular septal ... |
ORPHA:99050 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Recurrent respiratory infections, Cough |
ORPHA:77260 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... |
ORPHA:266 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... |
ORPHA:563 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Abnormal hear... |
ORPHA:3092 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Dyspnea, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... |
OMIM:618278 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... |
OMIM:615631 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... |
OMIM:540000 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Sandhoff Disease |
|
Hepatomegaly, Splenomegaly, Congestive heart failure |
ORPHA:796 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... |
OMIM:613854 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... |
OMIM:140400 |
Diffuse Alveolar Hemorrhage |
|
Irregular septal thickening on pulmonary HRCT, Airway obstruction, Increased DLCO, Pulmonary veno... |
ORPHA:90060 |
Maternally-Inherited Diabetes And Deafness |
|
Type II diabetes mellitus, Arrhythmia, Hypertension, Hypertrophic cardiomyopathy, Congestive hear... |
ORPHA:225 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Pulmonary Alveolar Microlithiasis |
|
Ground-glass opacification, Pneumothorax, Respiratory failure, Interlobular septal thickening, Ox... |
ORPHA:60025 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Atrial septal defect, Coarctation of aorta, Tachypnea, Pulmonary arterial hypertension, Patent du... |
OMIM:614857 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... |
ORPHA:254875 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Cough, Wheezing, Bronchie... |
OMIM:613490 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:615440 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Premature ventricular contraction, Hypotension, Elevated hepatic transaminase, Vent... |
OMIM:212138 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis |
OMIM:301083 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Tricuspid regurgitation, Cholestasis, Heart murmur, Pulmonic valve myxoma... |
ORPHA:615 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Aortic Arch Interruption |
|
Respiratory distress, Blood pressure substantially higher in arms than legs, Systolic heart murmu... |
ORPHA:2299 |
Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardi... |
ORPHA:85451 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Interlobular septal thickening, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... |
OMIM:265450 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:265430 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory insufficiency, Respiratory failure, Neonatal death, Truncus arteriosus |
OMIM:228940 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... |
ORPHA:139507 |
Encephalopathy Due To Prosaposin Deficiency |
|
Respiratory insufficiency, Death in infancy, Recurrent respiratory infections |
ORPHA:139406 |
Pagod Syndrome |
|
Hypoplastic left heart, Sudden cardiac death, Abnormality of the spleen, Arrhythmia, Situs invers... |
ORPHA:991 |
Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Bronchiolitis obliterans organ... |
OMIM:619802 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Paroxysmal atrial tachycardia, Ventricular septal defect, Diabetes mellitus... |
ORPHA:49827 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Lipoyltransferase 1 Deficiency |
|
Decreased liver function, Pulmonary arterial hypertension, Elevated hepatic transaminase, Bradyca... |
OMIM:616299 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Hepatic fibrosis, Pulmonary artery atresia |
ORPHA:306550 |
Livedoid Vasculopathy |
|
Telangiectasia of the skin, Graves disease, Abnormal capillary morphology, Leukocytosis, Polycyth... |
ORPHA:542643 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Patent ductus arteriosus, Pulmonary hypoplasia, Respiratory failure |
OMIM:616867 |
Seckel Syndrome 9 |
|
Asthma, Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia, Recurrent r... |
OMIM:616777 |
Propionic Acidemia |
|
Apnea, Hepatomegaly, Pancreatitis, Cerebellar hemorrhage, Tachypnea, Pancytopenia, Neutropenia, A... |
OMIM:606054 |
Ciliary Dyskinesia, Primary, 1 |
|
Chronic rhinitis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Ciliary dyskinesia, Pneum... |
OMIM:244400 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
Scedosporiosis |
|
Sinusitis, Apical pulmonary opacity, Pleural empyema, Cough, Pleuritis, Bronchitis, Respiratory f... |
ORPHA:449280 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure |
OMIM:616081 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia, Congestive heart failure |
ORPHA:163596 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Hypertension, Retic... |
ORPHA:90044 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Respiratory insufficiency, Respiratory failure |
OMIM:613869 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Reticulocytosis, Splenomegaly |
OMIM:224100 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... |
OMIM:614954 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... |
OMIM:616689 |
Cardiomyopathy, Dilated, 1Y |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Ebstein anomaly of the tricu... |
OMIM:611878 |
Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... |
ORPHA:34217 |
Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... |
ORPHA:1880 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Patent foramen ovale, Prolonged Q... |
OMIM:601005 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Foam cells, Thrombocytopenia |
OMIM:269600 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Stillbirth, Neonatal death, Congestive heart failure |
OMIM:619751 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... |
OMIM:607685 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Pulmonary arterial hypertension |
ORPHA:1164 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Atrial Standstill 2 |
|
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Dilatat... |
OMIM:615745 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... |
ORPHA:2590 |
Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis |
ORPHA:33574 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis, Neonatal death, Death in infancy |
OMIM:300219 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Jaundice, Third heart sound, Left ventricular diastolic d... |
ORPHA:57777 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarc... |
ORPHA:330001 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... |
OMIM:187300 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... |
OMIM:615234 |
Non-Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Hepatic hemangioma, Congestive heart failure |
ORPHA:141179 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis |
ORPHA:2901 |
Romano-Ward Syndrome |
|
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Atrial septal defect, Peripheral arteriovenous fistula, Respiratory insufficiency, ... |
ORPHA:90308 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Cerebral hemorrhage, Leukocytosis, Lymphadenitis, Respiratory insufficiency, Congenital th... |
OMIM:618886 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hepatoc... |
OMIM:235200 |
Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:95717 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Epistaxis |
OMIM:314050 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Atrial septal defect, Tracheomalacia, Persistence of hemoglobi... |
OMIM:612561 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Left atrial enlargement, Atri... |
OMIM:615770 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... |
OMIM:612158 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoparathyroidism, Hypoplastic left heart, Pulmonic stenosis, Tac... |
ORPHA:3426 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory failure, Neonatal death, Respiratory insufficiency due to muscle weakness |
OMIM:611890 |
Laryngeal Web, Familial |
|
Respiratory distress, Recurrent upper respiratory tract infections, Stridor |
OMIM:150360 |
Larsen-Like Syndrome, Lethal Type |
|
Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Tracheomalacia |
OMIM:245650 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618815 |
3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, Sudden cardiac death, Noncompaction cardiomyopathy, Dilated car... |
OMIM:610198 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect |
OMIM:614399 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... |
ORPHA:229 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Ciliary dyskinesia, Immotile cilia, Bronchiectasis, Absent inner... |
OMIM:606763 |
Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy |
OMIM:615348 |
Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... |
ORPHA:137914 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Telangiectasia, Lymphopenia, Raynaud phenomenon, Leukopenia, Follicular hyperplasia, Tachypnea, T... |
OMIM:615934 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tricuspid regurgitation, Left ventricular noncompaction, Tachypnea, Aortic regurgitation, Patent ... |
OMIM:616501 |
Desminopathy |
|
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... |
ORPHA:98909 |
Aspergillosis |
|
Asthma, Sinusitis, Pulmonary infiltrates, Chronic pulmonary obstruction, Hypersensitivity pneumon... |
ORPHA:1163 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Death in childhood, Respiratory insufficiency, Death in adolescence, Intraalveolar phospholipid a... |
OMIM:618042 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, Type I diabetes mell... |
ORPHA:290 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Short chordae tendineae of ... |
OMIM:314400 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Rapidly Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Hepatic hemangioma, Congestive heart failure |
ORPHA:141184 |
Hypermanganesemia With Dystonia 1 |
|
Polycythemia |
OMIM:613280 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Aorti... |
OMIM:620025 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Recurren... |
OMIM:618695 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Si... |
OMIM:601186 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Slc35A1-Cdg |
|
Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Pneumonia, Hypoxemia |
ORPHA:238459 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent upper respiratory tract infections,... |
OMIM:613101 |
Spherocytosis, Type 2 |
|