Polycythemia Vera |
|
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... |
OMIM:263300 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia... |
OMIM:133100 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Bronchopulmonary Dysplasia |
|
Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Abnormal respiratory system physiolo... |
ORPHA:70589 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Asbestos Intoxication |
|
Cyanosis, Oxygen desaturation on exertion, Pleural thickening, Decreased DLCO, Diffuse reticular ... |
ORPHA:2302 |
Ciliary Dyskinesia, Primary, 21 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... |
OMIM:615294 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... |
OMIM:615872 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy... |
OMIM:267450 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Cyanosis, Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Par... |
OMIM:610921 |
Cardiomyopathy, Dilated, 1M |
|
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... |
OMIM:607482 |
Erythrocytosis, Familial, 2 |
|
Pulmonary arterial hypertension, Hypotension, Elevated circulating erythropoietin concentration, ... |
OMIM:263400 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Pulmonary arterial hypertension, Cyanosis, Intraalveolar phospholipid accumulation, Desquamative ... |
OMIM:265120 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Monocytosis, Leukopenia, Acute myeloid leukemia, Refractory anemia |
OMIM:616871 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... |
OMIM:614470 |
Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent pneumonia, Cough, Recurrent low... |
OMIM:616726 |
Immunodeficiency 95 |
|
Respiratory distress, Ground-glass opacification, Respiratory failure, Recurrent viral upper resp... |
OMIM:619773 |
Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, D... |
ORPHA:60032 |
Acute Interstitial Pneumonia |
|
Cyanosis, Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural ho... |
ORPHA:79126 |
Cardiomyopathy, Dilated, 1L |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... |
OMIM:606685 |
Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp... |
ORPHA:922 |
Ciliary Dyskinesia, Primary, 20 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:615067 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Atelectasis |
OMIM:300455 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory fai... |
ORPHA:70587 |
Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Conge... |
OMIM:611880 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Desquamative interstitial pneumonitis, Respiratory distress, Cough, Recurrent upper res... |
OMIM:263000 |
Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... |
OMIM:613172 |
Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Abnormal pulmonary thoracic ... |
ORPHA:70588 |
Tempi Syndrome |
|
Telangiectasia, Increased hematocrit, Hypoxemia, Intracranial hemorrhage, Polycythemia, Transudat... |
ORPHA:284227 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
Truncus Arteriosus |
|
Hypoplasia of the thymus, Truncus arteriosus, Pulmonary hypoplasia, Tachycardia, Pulmonary artery... |
ORPHA:3384 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Ground-glass opacification, Nodular pattern on pulmonary HRCT, Dyspnea, Cough |
ORPHA:60026 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Parenchymal consolidation, Abnormal pulmonary thoracic imaging finding, Asthma, Hypoxemia, Pleura... |
ORPHA:2902 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Scimitar Syndrome |
|
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Heart block, Abnormal vena cava morpholog... |
ORPHA:185 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... |
OMIM:613255 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Hepatic bridging fibrosis, L... |
OMIM:613759 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Cardiomyopathy, Dilated, 1Ee |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613252 |
Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Respiratory failure, Death in childhood, Recurrent respiratory infections |
OMIM:253300 |
Cardiomyopathy, Dilated, 1J |
|
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... |
OMIM:605362 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid neutrophil proportion, Parenchymal c... |
OMIM:610978 |
Cardiomyopathy, Dilated, 1Ff |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:613286 |
Pulmonary Blastoma |
|
Pulmonary infiltrates, Pleuropulmonary blastoma, Recurrent pneumonia, Dyspnea, Cough |
ORPHA:64741 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... |
ORPHA:3348 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Cyanosis, Bronchiectasis, Desquamative interstitial pneumonitis, Decre... |
OMIM:610913 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Common atrium,... |
OMIM:616749 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... |
OMIM:615373 |
Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... |
OMIM:604765 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy |
OMIM:611879 |
Primary Familial Polycythemia |
|
Epistaxis, Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... |
OMIM:600884 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat... |
OMIM:613694 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress, Death in infancy |
OMIM:254120 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613881 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... |
OMIM:604169 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Hypoxemia, L... |
OMIM:610910 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac septum morphology |
ORPHA:3319 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert... |
ORPHA:860 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia |
OMIM:192600 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Leukocytosis |
ORPHA:168621 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Mit... |
OMIM:616201 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... |
OMIM:615396 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy |
ORPHA:3283 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:612877 |
Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress |
ORPHA:141152 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:217622 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
Cryptogenic Organizing Pneumonia |
|
Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect... |
ORPHA:1302 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Asymmetric septal hypertrophy, Conges... |
OMIM:600858 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilated cardio... |
OMIM:613697 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Patent ductus arteriosus, Maternal diabetes, Abnormal tricuspid valve morphology, Pulmonary arter... |
ORPHA:1208 |
Pneumocystosis |
|
Respiratory insufficiency, Parenchymal consolidation, Exertional dyspnea, Combined cystic and gro... |
ORPHA:723 |
Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... |
ORPHA:1686 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypothyroidism, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cel... |
OMIM:613673 |
Cardiomyopathy, Dilated, 1S |
|
Pulmonary arterial hypertension, Sudden cardiac death, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Dehydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... |
ORPHA:3202 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Coronary Arterial Fistula |
|
Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitations, Patent ... |
ORPHA:2041 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FE... |
ORPHA:1303 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Congestive ... |
OMIM:615248 |
Emphysema, Hereditary Pulmonary |
|
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema |
OMIM:130700 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Diffuse reticular or finely nodular infiltrations, Respiratory tract infection, Chronic bronchiti... |
ORPHA:79127 |
Staphylococcal Necrotizing Pneumonia |
|
Hypotension, Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory dist... |
ORPHA:36238 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... |
ORPHA:827 |
Larynx Atresia |
|
Respiratory insufficiency, Recurrent respiratory infections |
ORPHA:1202 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Bronchogenic Cyst |
|
Abnormal pleura morphology, Pulmonary cyst, Abnormal pulmonary thoracic imaging finding, Dyspnea,... |
ORPHA:2357 |
Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... |
OMIM:614672 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
Immunodeficiency 91 And Hyperinflammation |
|
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Neutrophilia, Hepatosplenomegal... |
OMIM:619644 |
Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation, Atrial septal defect |
OMIM:613087 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... |
OMIM:608569 |
Pleural Mesothelioma |
|
Abnormal pleura morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural... |
ORPHA:50251 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Left ventri... |
OMIM:619048 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Respiratory insufficiency, Pulmonary infiltrates, Abnormal pleura morphology, Restrictive ventila... |
ORPHA:724 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted... |
ORPHA:90117 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia |
ORPHA:871 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad... |
OMIM:614022 |
Atrial Septal Defect, Sinus Venosus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... |
OMIM:618782 |
Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Respiratory distress, Atelectasis, Death in infancy |
OMIM:300219 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Pulmonary fibrosis, Exertional dyspnea, Atelectasis |
ORPHA:254361 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Lethal Congenital Contracture Syndrome 3 |
|
Respiratory insufficiency, Neonatal death |
OMIM:611369 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Congestive heart failure |
OMIM:301021 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
Trimethylaminuria |
|
Anemia, Hypertension, Recurrent pneumonia, Tachycardia, Neutropenia, Splenomegaly |
OMIM:602079 |
X-Linked Severe Congenital Neutropenia |
|
Neutropenia, Monocytopenia |
ORPHA:86788 |
Congenital Pulmonary Airway Malformation |
|
Respiratory insufficiency, Abnormal pleura morphology |
ORPHA:2444 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... |
ORPHA:264675 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Cardiomyopathy, Dilated, 2F |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... |
ORPHA:75566 |
Acute Lung Injury |
|
Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distres... |
ORPHA:178320 |
Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Abnormality of the liver, Congestive heart failure |
ORPHA:132 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... |
OMIM:601494 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Respiratory insufficiency, Hypoplasia of the thymus, Perianal abscess, Secundum atrial septal def... |
OMIM:612541 |
Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Increased red blood cell count, Hypovolemia,... |
ORPHA:90041 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... |
ORPHA:140896 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Acrocyanosis, Atelectasis |
ORPHA:896 |
Duodenal Neuroendocrine Tumor |
|
Hypotension, Cardiogenic shock, Palpitations, Hematemesis, Increased circulating ACTH level, Insu... |
ORPHA:100076 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Myocardial infarction, Abnormality of venous physiology, Leukocytos... |
ORPHA:90064 |
Interstitial Lung Disease 1 |
|
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... |
OMIM:619611 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Thrombocythemia 3 |
|
Ischemic stroke, Thrombocytosis |
OMIM:614521 |
Laryngotracheoesophageal Cleft |
|
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress, Recurrent respirato... |
ORPHA:2004 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... |
OMIM:614980 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea |
OMIM:611722 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... |
OMIM:607450 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Midline liver, Ventricular septal defect, Common atrium, Transposi... |
OMIM:613751 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... |
OMIM:618052 |
Ciliary Dyskinesia, Primary, 5 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:608647 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Anemia of inadequate production, Erythroid hyperplasia, Reticulocytosis |
OMIM:237800 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... |
OMIM:612690 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus |
OMIM:601612 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Respiratory failure |
OMIM:208081 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary arterial hypertension, Centrilobular ground-glass opacification on pulmonary HRCT, Pulm... |
OMIM:234810 |
Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Pulmonary insufficiency, Heart murmur, Dilated cardiomyopathy, Con... |
ORPHA:2326 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Congestive heart failure, Dilated cardiomyopathy, Hepatomegaly, Arrhythmia, Hypogonado... |
OMIM:602390 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea, Cyanotic episode, Death in infancy |
OMIM:610992 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Hypogonadism, Elevated hepatic transaminase, Congestive heart failur... |
OMIM:613313 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Maternal ... |
ORPHA:45452 |
Primary Ciliary Dyskinesia |
|
Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Peribronchova... |
ORPHA:244 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Exertional dyspnea, Dyspnea, ... |
OMIM:614370 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... |
ORPHA:1345 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... |
ORPHA:60033 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Abnormal pulmonary interstitial morphology, Decreased DLCO, Foam ... |
OMIM:607616 |
Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Hypo... |
ORPHA:1209 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary arterial hypertension, Arterial intimal fibrosis, Pulmonary arterial medial hypertrophy... |
OMIM:178600 |
Chronic Pneumonitis Of Infancy |
|
Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress... |
ORPHA:91359 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Aspiration pneumonia, Neonatal respiratory distress |
OMIM:619057 |
Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Myopathy, Myofibrillar, 1 |
|
Third degree atrioventricular block, Restrictive cardiomyopathy, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Bronchiectasis, Recurrent respiratory infections, Neutrophilia, Sinusitis,... |
OMIM:226990 |
Juvenile Temporal Arteritis |
|
Cerebral ischemia, Vasculitis, Leukocytosis, Eosinophilia |
ORPHA:26137 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Apnea, Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
Apnea, Central Sleep |
|
Irregular respiration, Cyanosis, Sleep apnea, Abnormal pattern of respiration |
OMIM:207720 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Intraalveolar phospholipid accumulation, Hypoxemia, Crackles, Restrictive ventilatory d... |
ORPHA:747 |
Idiopathic Pulmonary Hemosiderosis |
|
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Reticular ... |
ORPHA:99931 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Cyanosis, Exertional dyspnea, Hemothorax, Pulmonary edema, Ce... |
ORPHA:199241 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Arrhythmia, Congestive heart failure, Cardiomyopathy |
OMIM:616198 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi... |
ORPHA:411703 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... |
ORPHA:486 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Respiratory tract infection, Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopeni... |
ORPHA:444463 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe... |
OMIM:178500 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory failure, Death in adolescence, Respiratory insufficiency due to muscle weakness |
OMIM:300717 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
Beta-Thalassemia |
|
Respiratory insufficiency, Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelit... |
ORPHA:848 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory insufficiency, Apnea, Respiratory failure, Death in infancy |
OMIM:613869 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Perching Syndrome |
|
Cyanosis, Respiratory distress |
OMIM:617055 |
Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Crackles, Displacement of the papillary muscles, Hepatomegaly, Abnormal P ... |
ORPHA:1329 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, Chronic bronchitis, T lymphocytopenia, Monocytopenia, B lymphocytopeni... |
OMIM:618986 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Hypoxemia, Reticulocytosis, Hepatosplenomegaly, Tachy... |
ORPHA:71275 |
Gaucher Disease Type 2 |
|
Abnormal pattern of respiration, Cough, Respiratory distress, Recurrent respiratory infections |
ORPHA:77260 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Right bundle branch block, Redu... |
OMIM:115197 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Cough, Dyspnea, Panacinar emph... |
OMIM:613490 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Cyanosis, Respiratory distress, Chronic pulmonary obstruction, P... |
ORPHA:2414 |
Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Congestive heart failure, Abnormal left ventricle morphology, Arrhythmia, Abnorm... |
ORPHA:1055 |
Idiopathic Pulmonary Fibrosis |
|
Abnormal pulmonary interstitial morphology, Exertional dyspnea, Bronchiectasis, Honeycomb lung, R... |
ORPHA:2032 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Hypertrophic cardiomyopathy... |
OMIM:614096 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Pulmonary hypoplasia, Apnea, Re... |
ORPHA:2257 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Pulmonary artery dilatation, Airway obstruction, Palpitations, Abnormal P ... |
ORPHA:99106 |
Right Atrial Isomerism |
|
Right atrial isomerism, Asplenia, Abdominal situs ambiguus, Ventricular septal defect, Common atr... |
OMIM:208530 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis |
OMIM:179700 |
Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent respiratory infections, Respiratory distress |
OMIM:615993 |
Pulmonary Hemosiderosis |
|
Respiratory insufficiency, Transient pulmonary infiltrates, Pulmonary fibrosis, Recurrent intrapu... |
OMIM:178550 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Epistaxis, Increased RBC distribution width, Thr... |
OMIM:314050 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Congestive heart failure, Hypertension, Hepatic steatosis, Myocardial ... |
OMIM:615703 |
Ciliary Dyskinesia, Primary, 1 |
|
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Nasal polyposis, Chronic... |
OMIM:244400 |
Laryngotracheal Angioma |
|
Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing |
ORPHA:137935 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Hemosiderin-laden macrophages i... |
OMIM:616414 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:616081 |
Atransferrinemia |
|
Abnormality of the liver, Congestive heart failure |
OMIM:209300 |
Endocardial Fibroelastosis |
|
Anterior hypopituitarism, Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibro... |
ORPHA:2022 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Encephalopathy Due To Prosaposin Deficiency |
|
Respiratory insufficiency, Recurrent respiratory infections, Death in infancy |
ORPHA:139406 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect |
OMIM:616276 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory insufficiency, Ventricular hypertrophy, Microvesicular hepatic steatosis, Respiratory... |
OMIM:618278 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Hypothyroidism, Increased circulating prolactin concentration, H... |
ORPHA:2905 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Bronchiectasis, Coombs-positive hemolytic anemia, De... |
OMIM:617514 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale, Bradycardia, Sick sinus syndrome |
OMIM:617182 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia, Patent ductus arteriosus |
OMIM:616867 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration |
OMIM:618328 |
Congenital Tracheomalacia |
|
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... |
ORPHA:95430 |
Paragangliomas 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Ambiguous atr... |
ORPHA:216694 |
Adult Acute Respiratory Distress Syndrome |
|
Pulmonary infiltrates, Pulmonary edema, Hypoxemia, Dyspnea, Abnormal blood gas level, Respiratory... |
ORPHA:70578 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal respiratory system phys... |
ORPHA:266 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left ventricular outflow tract obstruction, Aortopulmonary window, Pulmonary hypoplasia, Abnormal... |
ORPHA:99050 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Congestive heart failure, Hypertens... |
OMIM:540000 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... |
ORPHA:3092 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Abnormality of thyroid physiology, Elevated j... |
ORPHA:563 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Avian Influenza |
|
Pulmonary infiltrates, Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Miscarria... |
ORPHA:454836 |
Sandhoff Disease |
|
Splenomegaly, Congestive heart failure, Hepatomegaly |
ORPHA:796 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... |
ORPHA:254875 |
Congenital Myopathy 14 |
|
Apnea, Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness |
OMIM:618414 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... |
ORPHA:232 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Dyspnea, Hemolytic anemia |
ORPHA:228312 |
Maternally-Inherited Diabetes And Deafness |
|
Type II diabetes mellitus, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, A... |
ORPHA:225 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Left ventricular outflow tract obstruction, Hypoplastic pulmonary ... |
OMIM:613854 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Atrial septal defect, Coarctation of a... |
OMIM:614857 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Chronic Beryllium Disease |
|
Respiratory insufficiency, Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system... |
ORPHA:133 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
African Iron Overload |
|
Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ... |
ORPHA:139507 |
Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
Propionic Acidemia |
|
Cerebellar hemorrhage, Anemia, Pancytopenia, Tachypnea, Apnea, Hepatomegaly, Thrombocytopenia, Ne... |
OMIM:606054 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Jaundice, Congestive heart failure, ... |
ORPHA:615 |
Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Ventricular tachycardia, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Congestive heart failure |
OMIM:605676 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatomega... |
OMIM:618234 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Tricuspid regurgitation, Pericardial e... |
ORPHA:555874 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
Aortic Arch Interruption |
|
Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary window, Truncus... |
ORPHA:2299 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... |
OMIM:616689 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Ventricular hypertrophy, Cardiac arrest, Elevated hepatic transaminase, Hepatic stea... |
OMIM:212138 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... |
ORPHA:85451 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy... |
OMIM:611705 |
Pagod Syndrome |
|
Sudden cardiac death, Abnormal aortic morphology, Abnormality of the pulmonary artery, Pulmonary ... |
ORPHA:991 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Hepatic fibrosis, Ventricular septal defect |
ORPHA:306550 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Livedoid Vasculopathy |
|
Anemia, Ischemic stroke, Abnormal capillary morphology, Polycythemia, Pancytopenia, Venous insuff... |
ORPHA:542643 |
Seckel Syndrome 9 |
|
Ventricular septal defect, Asthma, Atrial septal defect, Pulmonary artery hypoplasia, Recurrent r... |
OMIM:616777 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, Congestive heart failur... |
ORPHA:49827 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... |
ORPHA:90044 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Eosinophilia, Myeloproliferative disorder, Hepa... |
OMIM:607685 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Asthma, Emphysema, Cough |
ORPHA:1164 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Death in infancy, Death in ad... |
OMIM:618042 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Congestive heart failure, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Larsen-Like Syndrome, Lethal Type |
|
Respiratory insufficiency, Tracheomalacia, Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Splenomegaly, Reticulocytosis |
OMIM:224100 |
Pulmonary Alveolar Microlithiasis |
|
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Oxygen desaturation on exertio... |
ORPHA:60025 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial septal defect, Atrioventricular block, Abnormal heart morpholog... |
OMIM:614954 |
Scedosporiosis |
|
Bronchitis, Apical pulmonary opacity, Pleural empyema, Pleuritis, Abnormal respiratory system phy... |
ORPHA:449280 |
Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... |
ORPHA:34217 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory failure, Recurrent aspiration pneumonia, Respiratory insufficiency due to muscle weak... |
ORPHA:2590 |
Cardiomyopathy, Dilated, 1Y |
|
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... |
OMIM:611878 |
Ebstein Malformation Of The Tricuspid Valve |
|
Sudden cardiac death, Imperforate tricuspid valve, Right bundle branch block, Abnormal cardiac se... |
ORPHA:1880 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Cirrhosis, Thrombocytopenia, Foam cells, Splenomegaly |
OMIM:269600 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia, Hypoxemia, Respiratory distress |
ORPHA:2140 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Neonatal death, Congestive heart failure, Stillbirth |
OMIM:619751 |
Timothy Syndrome |
|
Patent foramen ovale, Hypothyroidism, Ventricular septal defect, Prolonged QT interval, Cardiomeg... |
OMIM:601005 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:1832 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect |
OMIM:616277 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Reduced left ventricular ejection fraction, Left ventricular noncompact... |
OMIM:616501 |
Choanal Atresia |
|
Cyanosis, Abnormal nasal mucus secretion, Respiratory distress, Chronic sinusitis, Upper airway o... |
ORPHA:137914 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly |
ORPHA:33574 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
Atrial Standstill 2 |
|
Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr... |
OMIM:615745 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop... |
OMIM:612124 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Pulmonary infiltrates, Abnormal pulmonary interstitial morpholog... |
OMIM:612387 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Neonatal death, Apnea, Respiratory failure |
OMIM:610127 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis |
ORPHA:2901 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... |
ORPHA:330001 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Cirrhosis, Left ventricular diastolic dysfunction, Third hear... |
ORPHA:57777 |
Ciliary Dyskinesia, Primary, 2 |
|
Bronchiectasis, Immotile cilia, Absent inner and outer dynein arms, Respiratory distress, Nasal p... |
OMIM:606763 |
Cystic Hamartoma Of Lung And Kidney |
|
Respiratory insufficiency, Pulmonary fibrosis, Recurrent respiratory infections |
ORPHA:2111 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Hepatic arteriovenous malformation, Brain abscess, Ischemic stroke, Spontaneous, recurrent epista... |
OMIM:187300 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Respiratory insufficiency, Anemia, Cerebral hemorrhage, Hypertension, Apnea, Leuko... |
OMIM:618886 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
Idiopathic Congenital Hypothyroidism |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95717 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Aplas... |
ORPHA:3426 |
Hemochromatosis, Type 1 |
|
Cirrhosis, Telangiectasia, Hepatocellular carcinoma, Congestive heart failure, Elevated hepatic t... |
OMIM:235200 |
Diamond-Blackfan Anemia 6 |
|
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolap... |
OMIM:612561 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Abnormal bronchus physiology, Lymphadenopathy, Pneumonia, Thrombocyto... |
OMIM:209950 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Respiratory insufficiency, Pulmonary embolism, Abnormality of the pulmo... |
ORPHA:90308 |
Ciliary Dyskinesia, Primary, 42 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... |
OMIM:618695 |
Atrial Fibrillation, Familial, 15 |
|
Sudden cardiac death, Supraventricular tachycardia, Left atrial enlargement, Atrial flutter, Atri... |
OMIM:615770 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
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 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Slc35A1-Cdg |
|
Pulmonary hemorrhage, Subcutaneous hemorrhage, Hypoxemia, Respiratory distress, Pneumonia |
ORPHA:238459 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy |
OMIM:618815 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear... |
OMIM:614473 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory insufficiency, Restrictive ventilatory defect, Respiratory distress, Respiratory failure |
OMIM:614399 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
Ciliary Dyskinesia, Primary, 11 |
|
Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Immotile cilia, Recurrent sinus... |
OMIM:612649 |
Familial Aortic Dissection |
|
Patent ductus arteriosus, Aortic root aneurysm, Cardiomegaly, Exertional dyspnea, Coronary artery... |
ORPHA:229 |
Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy |
OMIM:615348 |
Non-Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Congestive heart failure, Telangiectasia of the skin |
ORPHA:141179 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Cough, Generalized abnormality of skin, Atelectasis |
ORPHA:2314 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Respiratory distress |
ORPHA:91130 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:615440 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Beta-Thalassemia Intermedia |
|
Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyr... |
ORPHA:231222 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation |
OMIM:614302 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Telangiectasia, Raynaud phenomenon, Lymphopenia, Follicular hyperplasia, Thro... |
OMIM:615934 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
X-Linked Centronuclear Myopathy |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress, Recurrent re... |
ORPHA:596 |
Desminopathy |
|
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... |
ORPHA:98909 |
Ciliary Dyskinesia, Primary, 28 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615505 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Mitral valve prolapse, Short ... |
OMIM:314400 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno... |
ORPHA:439 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Congestive heart failure, Abnormal heart valve morphology, Heart murmur |
ORPHA:3400 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
Elliptocytosis 2 |
|
Elliptocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Intraalveolar phospholipid accumulation, Reduced forced vital capacity, Ground-glass opacificatio... |
OMIM:300770 |
Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Anemia, Ventricular septal defect, Jaundice, Abnormality of the pulmona... |
ORPHA:290 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortic root aneurysm, Pulmonary arterial hypertension, Aortopulmonary window, Ventricular septal ... |
OMIM:620025 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Ciliary Dyskinesia, Primary, 23 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615451 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure |
OMIM:236750 |
Hypermanganesemia With Dystonia 1 |
|
Polycythemia |
OMIM:613280 |
Hepatocellular Carcinoma |
|
Hypotension, Anemia, Abnormality of the liver, Liver abscess, Type II diabetes mellitus, Hepatic ... |
ORPHA:88673 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Elevated circulating alanine aminotransferase concentration, Microvesicular... |
OMIM:610198 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Abnormal flash visual evoked potentials, Macular degeneration, Bone spicul... |
OMIM:618195 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Ciliary Dyskinesia, Primary, 30 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Resp... |
OMIM:616037 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... |
OMIM:613838 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Abnormal pulmonary interstitial morphology, Recurrent sinusitis, Hepatosplenomegaly, Lymp... |
OMIM:613101 |
Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Respiratory insufficiency, Truncus arteriosus, Bilateral lung agenesis,... |
OMIM:601186 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
Familial Thyroid Dyshormonogenesis |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95716 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Common carotid artery aneurysm, Aortic... |
OMIM:613834 |
Sickle Cell Disease |
|
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Hypox... |
OMIM:603903 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press... |
OMIM:255160 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy |
OMIM:225753 |
Cardiac Valvular Dysplasia 2 |
|
Subvalvular aortic stenosis, Systolic heart murmur, Ascending tubular aorta aneurysm, Pulmonary i... |
OMIM:620067 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Hepatic arteriovenous malformation, Brain abscess, Ischemic stroke, Facial telangiectasia, Sponta... |
OMIM:600376 |
Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis |
OMIM:612653 |
Congenital Gerbode Defect |
|
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa... |
ORPHA:99095 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Elevated hepatic transaminase, Bradycardia, Decreased liver func... |
OMIM:616299 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... |
ORPHA:217563 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Respiratory distress |
ORPHA:238329 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Upper airway obstruction, Dyspnea, Cough, Stridor, Neoplasm of the lung |
ORPHA:142 |
Rapidly Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Congestive heart failure, Telangiectasia of the skin |
ORPHA:141184 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Atrial Septal Defect, Ostium Secundum Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... |
ORPHA:99103 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Immunodeficiency 54 |
|
Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections |
OMIM:609981 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... |
OMIM:254210 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure, Recurrent respiratory infections, Dyspnea, Respiratory distress |
ORPHA:2759 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy |
OMIM:608099 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Niemann-Pick Disease, Type C2 |
|
Respiratory insufficiency, Death in infancy, Jaundice, Respiratory failure, Prolonged neonatal ja... |
OMIM:607625 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Neonatal death, Pulmonary hypoplasia, Neonatal respiratory distress |
OMIM:619003 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Bronchiectasis, Increased proportion of transitional B cells, Recurrent sinopu... |
OMIM:615513 |
Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... |
OMIM:300257 |
Alpha-1-Antitrypsin Deficiency |
|
Jaundice, Emphysema |
ORPHA:60 |
Familial Cutaneous Collagenoma |
|
Congestive heart failure, Angina pectoris, Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Lymphangioleiomyomatosis |
|
Pulmonary infiltrates, Pneumothorax, Emphysema, Restrictive ventilatory defect, Dyspnea, Chylotho... |
ORPHA:538 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ... |
ORPHA:542306 |
Von Hippel-Lindau Disease |
|
Pancreatic cysts, Pancreatic endocrine tumor, Elevated circulating catecholamine level, Neoplasm ... |
ORPHA:892 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Recurren... |
OMIM:619164 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:206546 |
Schnitzler Syndrome |
|
Anemia, Lymphadenopathy, Hepatomegaly, Leukocytosis, Splenomegaly, Vasculitis |
ORPHA:37748 |
Hyperparathyroidism, Neonatal Severe |
|
Anemia, Elevated circulating parathyroid hormone level, Dyspnea, Hepatomegaly, Primary hyperparat... |
OMIM:239200 |
Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure, Neonatal death, Death in childhood, Death in infancy |
OMIM:619334 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Ciliary Dyskinesia, Primary, 27 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615504 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Paradoxical respiration, Respiratory distress, Recurrent acute respiratory tract infection |
OMIM:620011 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... |
OMIM:605809 |
Congenital Myopathy 8 |
|
Cardiomegaly, Congestive heart failure |
OMIM:618654 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... |
OMIM:611528 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Respiratory insufficiency, Death in infancy, Respiratory failure, Neonatal death, Death in childh... |
OMIM:245400 |
Farber Disease |
|
Respiratory insufficiency, Nodular pattern on pulmonary HRCT, Respiratory distress, Recurrent upp... |
ORPHA:333 |
Ciliary Dyskinesia, Primary, 26 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615500 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure |
OMIM:616794 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Jaundice |
ORPHA:890 |
Nipah Virus Disease |
|
Cough, Respiratory distress, Recurrent pharyngitis |
ORPHA:99825 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Stroke, Reticulocytosis, Myocardial infarction, Dyspnea, Arrhy... |
ORPHA:54057 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Neoplasm of the pancreas, Pulmonary capillary hemangiomatosis, Polycythemia, Ph... |
OMIM:193300 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Periportal fibrosis, Reduced left ventricular ejection fraction, Hepatocell... |
OMIM:201475 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, T-wave inversion, ST segment depression, Congestive heart fail... |
OMIM:261740 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Pulmonary artery atresi... |
OMIM:612946 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
Chitayat Syndrome |
|
Tracheomalacia, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Res... |
OMIM:617180 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ... |
OMIM:300908 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Epistaxis, Leukocytosis, Extramedulla... |
OMIM:612840 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Hypogonadism, Diabetes mellitus, Abnormality of the thyroid gland, Arrhythmia, Bradycardia, Cardi... |
OMIM:609286 |
Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure, Increased circulating free T3, Decreased thyroid-stimulating hormone le... |
OMIM:275000 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Cirrhosis, Type II diabetes mellitus, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly... |
OMIM:616860 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Episodic tachypnea, Pericardial effusion, Jaundi... |
ORPHA:26793 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Aspiration, Intercos... |
ORPHA:258 |
Tracheal Agenesis |
|
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs |
ORPHA:3346 |
Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Leukopenia, Cirrhosis, Arteriovenous malformation, Abnormal pulm... |
ORPHA:974 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... |
ORPHA:2585 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Pulmonary hypoplasia, Respiratory distress |
OMIM:616733 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Premature graying of hair, Usual interstitial pneumonia, Reticular pattern on pulmonary HRCT, Cra... |
OMIM:614742 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea |
ORPHA:71277 |
Diffuse Alveolar Hemorrhage |
|
Pulmonary infiltrates, Hypoxemia, Ground-glass opacification, Restrictive ventilatory defect, Air... |
ORPHA:90060 |
Cln3 Disease |
|
T-wave inversion, Bradycardia, Left ventricular hypertrophy, Increased circulating androgen conce... |
ORPHA:228346 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Recurrent bronchitis, Chronic sinusitis, Nasal polyposis, Emphysema, Bronchiolitis |
OMIM:604571 |
Ciliary Dyskinesia, Primary, 15 |
|
Chronic bronchitis, Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, C... |
OMIM:613808 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Exertional dyspnea, Restrictive ventilatory defect, Orthopnea, Reduced vital capacity, ... |
ORPHA:98913 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia... |
OMIM:618780 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Elevated circulating alanine aminotransferase concentration, Microves... |
OMIM:212140 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... |
OMIM:614916 |
Acute Monoblastic/Monocytic Leukemia |
|
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia |
ORPHA:514 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:612126 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Facial erythema, Emphysema |
OMIM:618307 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:226313 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Pancreatitis, Respiratory distress, Stroke, Hepatomegaly, Thrombocytopenia, Neutropenia, ... |
ORPHA:79312 |
Congenital Tricuspid Stenosis |
|
Pulmonary arterial hypertension, Hypotension, Bacterial endocarditis, Heart murmur, Congestive he... |
ORPHA:95459 |
Ciliary Dyskinesia, Primary, 32 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Absent respiratory ciliary axoneme ... |
OMIM:616481 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Congestive heart failure, Arrhythmia |
ORPHA:157973 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia |
OMIM:614702 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Pulmonary arterial hypertension, Congestive heart failure |
OMIM:616045 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Left ventricular hypertrophy |
OMIM:614654 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopa... |
OMIM:614299 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Elevated jugular venous pressure, Hepatocellular carcinoma, Congestive... |
ORPHA:465508 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Vascular dilatation, Hypertension, Cardiomegaly, Tachypnea |
OMIM:613320 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Aplastic anemia, Neutropenia, Sp... |
OMIM:308240 |
Cednik Syndrome |
|
Congestive heart failure, Hypogonadism |
ORPHA:66631 |
Keutel Syndrome |
|
Ventricular septal defect, Recurrent bronchitis, Chronic sinusitis, Hypertension, Emphysema, Pulm... |
OMIM:245150 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... |
OMIM:601144 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... |
OMIM:609040 |
Dominant Beta-Thalassemia |
|
Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyr... |
ORPHA:231226 |
Tularemia |
|
Pulmonary infiltrates, Abnormal pulmonary thoracic imaging finding, Respiratory distress, Pleural... |
ORPHA:3392 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:324588 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery ... |
OMIM:185500 |
Acquired Methemoglobinemia |
|
Syncope, Hypoxemia, Respiratory distress, Dyspnea, Palpitations, Arrhythmia, Methemoglobinemia, T... |
ORPHA:464453 |
Ogden Syndrome |
|
Torsade de pointes, Secundum atrial septal defect, Pulmonary hypoplasia, Premature atrial contrac... |
OMIM:300855 |
Spherocytosis, Type 1 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis |
OMIM:182900 |
Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... |
ORPHA:97292 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis |
ORPHA:98827 |
Dk1-Cdg |
|
Interstitial cardiac fibrosis, Elevated hepatic transaminase, Dilated cardiomyopathy, Congestive ... |
ORPHA:91131 |
Ciliary Dyskinesia, Primary, 18 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Respiratory insufficiency due to defe... |
OMIM:614874 |
Beta-Thalassemia Major |
|
Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyr... |
ORPHA:231214 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185000 |
Ciliary Dyskinesia, Primary, 34 |
|
Decreased nasal nitric oxide, Bronchiectasis, Reduced respiratory ciliary beating frequency, Recu... |
OMIM:617091 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Leukopenia, Anemia, Cardiac arrest, Jaundice, Dilated cardiomyopathy, Apnea, Acute p... |
ORPHA:20 |
Lymphatic Malformation 12 |
|
Recurrent upper and lower respiratory tract infections, Pleural thickening, Death in adolescence,... |
OMIM:620014 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory insufficiency, Respiratory failure |
OMIM:313420 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Recurrent respiratory infections, Intracranial hemorrhage, Lymphadenopathy, ... |
ORPHA:3226 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Cyanosis, Pulmonary hemorrhage, Telangiectasia, Hemothorax, Pleu... |
ORPHA:2038 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormality of the pulmonary artery,... |
ORPHA:1354 |
Heterotaxy, Visceral, 12, Autosomal |
|
Abdominal situs ambiguus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal... |
OMIM:619702 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenomegaly, Normochromic a... |
OMIM:235700 |
Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
Lujo Hemorrhagic Fever |
|
Rhinitis, Purpura, Respiratory distress, Ecchymosis, Crackles, Nonproductive cough, Atelectasis |
ORPHA:319213 |
Babesiosis |
|
Hepatic failure, Jaundice, Congestive heart failure, Myocardial infarction, Hepatomegaly, Splenom... |
ORPHA:108 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... |
OMIM:224120 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Pulmonary hypoplasia, Emphysema, Recurrent pneumonia, Progeroid facial appearan... |
OMIM:613177 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory insufficiency, Respiratory tract infection, Exertional dyspnea, Respiratory distress,... |
ORPHA:365 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Hepatic steatosis, Hypertrophic cardiomyopathy, Abnormal heart morpholo... |
ORPHA:70472 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Nephronophthisis 2 |
|
Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia |
OMIM:602088 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Pulmonary hypoplasia, Respiratory distress |
OMIM:617895 |
Short-Rib Thoracic Dysplasia 12 |
|
Respiratory insufficiency, Patent ductus arteriosus, Pulmonary hypoplasia, Neonatal death, Atelec... |
OMIM:269860 |
Bacterial Toxic-Shock Syndrome |
|
Hypotension, Respiratory tract infection, Myocarditis, Hepatitis, Peritonitis, Increased circulat... |
ORPHA:36234 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Central sleep apnea, Apnea, Respiratory failure |
ORPHA:168486 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... |
ORPHA:439232 |
Ventricular Septal Defect 3 |
|
Patent ductus arteriosus, Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Abnormal pleura morphology, Abnormal breath sound, Crackles, Restrictive ventilatory defect, Dysp... |
ORPHA:210136 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Abnormal aortic valve morphology, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal... |
ORPHA:1194 |
Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
Birt-Hogg-Dubé Syndrome |
|
Pulmonary sequestration, Pneumothorax, Emphysema |
ORPHA:122 |
Beta-Ketothiolase Deficiency |
|
Hypotension, Hypertension, Cough, Thrombocytosis, Leukocytosis, Hepatomegaly, Tachypnea |
ORPHA:134 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Splenomegaly, Congestive heart failure, Hepatomegaly |
OMIM:269920 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory insufficiency, Nocturnal hypoventilation, Respiratory distress, Dyspnea, Stridor, Rec... |
OMIM:211530 |
Gaucher Disease, Type I |
|
Pulmonary arterial hypertension, Anemia, Abnormal pulmonary interstitial morphology, Hypersplenis... |
OMIM:230800 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Pediatric-Onset Graves Disease |
|
Sinus tachycardia, Increased circulating T4 concentration, Jaundice, Thyrotoxicosis with diffuse ... |
ORPHA:525731 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
Heterotaxy, Visceral, 5, Autosomal |
|
Bilateral trilobed lung, Asplenia, Double outlet right ventricle, Ascending tubular aorta aneurys... |
OMIM:270100 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Respiratory distress, Tachypnea |
ORPHA:79242 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal... |
OMIM:618316 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Bronchiectasis, Recurrent pneumonia, Lymphadenopathy, Abnormal CD4:CD8 ratio, ... |
OMIM:150550 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Ventricular septal defect, Increased size of nasopharyngeal adenoids, A... |
OMIM:619769 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Respiratory failure |
ORPHA:370968 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Splenomegaly, Congestive heart failure |
ORPHA:90037 |
Mercury Poisoning |
|
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress |
ORPHA:330021 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of the liver, Jaundice, Polycythemia, Hypertrophic cardiomyopathy, Micronodular cirrh... |
ORPHA:309854 |
Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Congestive heart failure, Dyspnea, Arrhythmia, Abnormal leukocyte morphology, S... |
ORPHA:98375 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Syncope, Type I diabetes mellitus, Hyperinsulinemic hypoglycemia, Diffuse pancr... |
ORPHA:276575 |
Fumarase Deficiency |
|
Polycythemia |
OMIM:606812 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Anemia, Tachypnea |
OMIM:615838 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Bradycardia |
OMIM:610015 |
Paragangliomas 3 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Elevated circulating catecho... |
OMIM:605373 |
Polymyositis |
|
Abnormal atrioventricular conduction, Abnormal mitral valve morphology, Dilated cardiomyopathy, C... |
ORPHA:732 |
Primary Lipodystrophy |
|
Cirrhosis, Type II diabetes mellitus, Pancreatitis, Hypertension, Congestive heart failure, Angin... |
ORPHA:90970 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut... |
OMIM:619375 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator... |
ORPHA:98914 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, P... |
ORPHA:401935 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Lymphoid Interstitial Pneumonia |
|
Respiratory tract infection, Parenchymal consolidation, Subpleural interstitial thickening, Bronc... |
ORPHA:79128 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Double outlet right ventricle, Ventricular septal defect, Abnormal left ventricular f... |
OMIM:301056 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis, Death in infancy, Respiratory distress, Apnea, Hypopnea, Neonatal respiratory distress,... |
OMIM:618426 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Syncope, Maternal diabetes, Type I diabetes mellitus, Hyperinsulinemic hypoglyc... |
ORPHA:276580 |
Goodpasture Syndrome |
|
Cyanosis, Pulmonary infiltrates, Pulmonary hemorrhage, Bloody bronchoalveolar lavage fluid, Nodul... |
OMIM:233450 |
Wild Type Abeta2M Amyloidosis |
|
Congestive heart failure, Gastrointestinal hemorrhage, Arrhythmia |
ORPHA:85446 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Pheochromocytoma,... |
OMIM:171420 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypothyroidism, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, Left ventricula... |
ORPHA:90065 |
Congenital Tracheal Stenosis |
|
Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis, Patent ductus arteriosu... |
ORPHA:141127 |
Glycogen Storage Disease Vii |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Reticulocytosis |
OMIM:232800 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Respiratory tract infection, Respiratory distress, Respiratory failure... |
ORPHA:308552 |
Absence Of The Pulmonary Artery |
|
Pulmonary arterial hypertension, Cyanosis, Hypocapnia, Patent ductus arteriosus, Truncus arterios... |
ORPHA:980 |
Atrioventricular septal defect 3 |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Inlet ventricular septal defect, ... |
OMIM:600309 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Pleural effu... |
OMIM:613011 |
Ciliary Dyskinesia, Primary, 22 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615444 |
Whim Syndrome |
|
Respiratory tract infection, Bronchiectasis, Recurrent pneumonia, Recurrent upper respiratory tra... |
ORPHA:51636 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Pulmonary edema, Hypoxemia, Pleural effusion, Respiratory failure, Tachypnea |
ORPHA:542323 |
Aorta Coarctation |
|
Patent ductus arteriosus, Aortic valve atresia, Pulmonary arterial hypertension, Perimembranous v... |
ORPHA:1457 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Decreased hemoglobin concentration, Chronic hem... |
OMIM:266200 |
Long Qt Syndrome 3 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... |
OMIM:603830 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Apnea, Respiratory failure, Central hypoventilation |
OMIM:619483 |
Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:300653 |
Hyperlysinemia |
|
Pulmonary artery hypoplasia, Recurrent pneumonia |
ORPHA:2203 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... |
ORPHA:35858 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory failure requiring assisted ventilation, Ventilator dependence with inability to wean,... |
ORPHA:254864 |
Immunodeficiency 92 |
|
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... |
OMIM:619652 |
Collagenoma, Familial Cutaneous |
|
Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Congestive heart failu... |
OMIM:115250 |
Mulibrey Nanism |
|
Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Hepatomegaly, Cardiomegaly |
OMIM:253250 |
Paragangliomas 1 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Elevated circulating catecho... |
OMIM:168000 |
Granulomatous Disease, Chronic, X-Linked |
|
Pleural effusion, Recurrent pneumonia, Cough, Air bronchogram, Atelectasis |
OMIM:306400 |
Adult-Onset Still Disease |
|
Hepatitis, Pleuritis, Neutrophilia, Recurrent pharyngitis, Generalized lymphadenopathy, Pericardi... |
ORPHA:829 |
Maternal Uniparental Disomy Of Chromosome X |
|
Primary gonadal insufficiency, Hepatic failure, Congestive heart failure |
ORPHA:261519 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Laryngomalacia |
|
Congenital laryngeal stridor, Respiratory distress |
OMIM:150280 |
Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Maternal diabetes, Pancreatitis, Hypertension, Congestive heart failure, Hepatic steat... |
ORPHA:79083 |
Neonatal Lupus Erythematosus |
|
Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytop... |
ORPHA:398124 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Atrioventricular canal defect, Pulmonary artery dilatation, Pleural effusion, Pulmonary... |
OMIM:265380 |
Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Respiratory failure, Stillbirth |
OMIM:276950 |
American Trypanosomiasis |
|
Congestive heart failure, Hepatomegaly, Arrhythmia, Myocarditis, Splenomegaly, Cardiomyopathy |
ORPHA:3386 |
Hereditary Methemoglobinemia |
|
Cyanosis, Exertional dyspnea |
ORPHA:621 |
Joubert Syndrome 23 |
|
Apnea, Tachypnea |
OMIM:616490 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Congestive heart failure, Dilated card... |
ORPHA:367 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block |
OMIM:614407 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Third degree atrioventricular block, Conotruncal defect, Hypoplasi... |
ORPHA:40366 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypertrophic cardi... |
OMIM:618775 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Neonatal respiratory distress, Respiratory distress, Death in infancy |
OMIM:615042 |
Joubert Syndrome 7 |
|
Neonatal breathing dysregulation, Episodic tachypnea, Tachypnea, Central apnea |
OMIM:611560 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Aspiration pneumonia, Episodic tachypnea, Apnea, Abnormal heart morphology, Tachycardia |
ORPHA:79264 |
Systemic Capillary Leak Syndrome |
|
Hypotension, Pulmonary edema, Pleural effusion, Pericarditis, Cardiorespiratory arrest, Rhinorrhe... |
ORPHA:188 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Idiopathic Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Heart murmur, Syncope, Conge... |
ORPHA:275766 |
Primary Myelofibrosis |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytosis, Leukoc... |
ORPHA:824 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction, Erythema, Angioedema, Urticaria |
ORPHA:100057 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Repeated pneumothoraces, Respiratory distress, Pulmonary hypoplasia, B... |
ORPHA:536467 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy |
ORPHA:1349 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter... |
ORPHA:231154 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Death in infancy |
OMIM:619386 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Pulmonary hypoplasia, Pulmonary artery ... |
ORPHA:99125 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:90673 |
Relapsing Polychondritis |
|
Purpura, Abnormal pattern of respiration, Dyspnea, Cough, Erythema, Atelectasis |
ORPHA:728 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Hypogonadism, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegaly, Elevated h... |
OMIM:615234 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Pulmonary ede... |
ORPHA:137675 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Congestive heart... |
ORPHA:324410 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Retinal hemorrhage, Abnormal mean corpuscular volume, Palpitations, Leuko... |
ORPHA:86839 |
Riddle Syndrome |
|
Bronchitis, Abnormal pulmonary interstitial morphology, Telangiectasia, Recurrent sinusitis, Chro... |
ORPHA:420741 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly |
OMIM:618892 |
Congenital Enterovirus Infection |
|
Hypotension, Leukopenia, Anemia, Myocarditis, Abnormal macrophage morphology, Pericardial effusio... |
ORPHA:292 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... |
OMIM:613873 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Death in infancy, Respiratory failure... |
OMIM:605711 |
Transaldolase Deficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Anemia, Hepatic fibrosis, Cirrhosis, Ventricular ... |
OMIM:606003 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroid... |
OMIM:603373 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Splenomegaly |
ORPHA:86843 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Respiratory failure, Paroxysmal dyspnea, Stridor, Cyanosis |
ORPHA:444013 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly, Spherocytosis |
ORPHA:66518 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Jaundice, Pulmonary hypoplasia, Neonatal death, Respiratory distress |
OMIM:231680 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Splenomegaly, Elevated hepatic transaminase, Hepatic steatosis, Prolonged QT in... |
OMIM:613327 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Hypothyroidism, Right bundle branch block, T-wave inversion, Ventricular... |
ORPHA:263297 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor |
OMIM:150260 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... |
ORPHA:1330 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Syncope, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypertrophic cardio... |
ORPHA:276556 |
Tetrasomy 5P |
|
Pulmonary arterial hypertension, Cyanosis, Pulmonary hypoplasia, Respiratory distress, Recurrent ... |
ORPHA:3309 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:611490 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Elevated hepatic transaminase, Hepatomegaly, ... |
OMIM:617397 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
Refsum Disease, Classic |
|
Cardiomegaly, Arrhythmia, Congestive heart failure, Cardiomyopathy |
OMIM:266500 |
Scleromyxedema |
|
Exertional dyspnea, Abnormality of thyroid physiology, Transient ischemic attack, Raynaud phenome... |
ORPHA:167635 |
Proximal Spinal Muscular Atrophy |
|
Respiratory failure, Hypoventilation, Recurrent aspiration pneumonia, Recurrent infections due to... |
ORPHA:70 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Cirrhosis, Congestive heart failure, Hepatic ste... |
ORPHA:528 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:615330 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Respiratory insufficiency, Pulmonary infiltrates, Abnormal pleura morphology, Asthma, Purpura, Ac... |
ORPHA:183 |
Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Anemia, Pleural empyema, Liver abscess, Lung abscess, Congestive... |
ORPHA:67 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... |
OMIM:603909 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy |
OMIM:606703 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
ORPHA:26792 |
Yellow Nail Syndrome |
|
Pulmonary arterial hypertension, Rhinitis, Bronchiectasis, Pleuritis, Dyspnea, Sinusitis, Cough, ... |
ORPHA:662 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Apnea, Sleep apnea, Respiratory failure, Central hypoventilation |
OMIM:618233 |
Neuraminidase Deficiency |
|
Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly... |
OMIM:256550 |
Necrotizing Enterocolitis |
|
Hypotension, Shock, Abnormal heart morphology, Peritonitis, Bradycardia |
ORPHA:391673 |
Omenn Syndrome |
|
Hypothyroidism, Anemia, Thyroiditis, Lymphadenopathy, Leukocytosis, Eosinophilia, Hepatomegaly, P... |
ORPHA:39041 |
Odontochondrodysplasia 1 |
|
Pulmonary hypoplasia, Recurrent respiratory infections, Respiratory distress, Death in infancy |
OMIM:184260 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Pulmonary hypoplasia |
ORPHA:171430 |
Aggressive Systemic Mastocytosis |
|
Hypotension, Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Increased ... |
ORPHA:98850 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Congestive hear... |
OMIM:611126 |
Cardiac Valvular Dysplasia 1 |
|
Patent foramen ovale, Left aortic arch with cervical origin of the right subclavian artery, Ventr... |
OMIM:212093 |
Leigh Syndrome |
|
Respiratory insufficiency, Abnormal pattern of respiration, Respiratory failure |
OMIM:256000 |
Fabry Disease |
|
Transient ischemic attack, Left ventricular hypertrophy, Angina pectoris, Ventricular septal hype... |
OMIM:301500 |
Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
Auriculocondylar Syndrome 2 |
|
Apnea, Snoring, Respiratory distress |
OMIM:614669 |
Canavan Disease |
|
Abnormality of visual evoked potentials, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:141 |
Zygomycosis |
|
Pulmonary infiltrates, Parenchymal consolidation, Pneumothorax, Pleural effusion, Epistaxis, Air ... |
ORPHA:73263 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Tachycardia, Jaundice, Congestive heart failure |
ORPHA:90033 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia, Decreased circulating cortisol level |
OMIM:618838 |
Radio-Renal Syndrome |
|
Respiratory distress, Pleural effusion, Dyspnea, Chylothorax, Respiratory failure |
ORPHA:3015 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Jaund... |
OMIM:194380 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Respiratory failure, Pneumonia, Abnormal respiratory system physiology, Recurrent respiratory inf... |
ORPHA:98905 |
Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Diffuse hepatic steatosis, Left ventricular hypertrophy, Congestive heart failure... |
ORPHA:746 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Congestive heart failure, Hepatic steatosis, Hypertrophic cardiomyopathy, Diabetes ... |
ORPHA:2348 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Hemolytic anemia, Perianal abscess, Granuloma, Lymphopenia, Hepatosplenomegaly, Pl... |
OMIM:618935 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Dextrocardia |
|
Pancreatic hypoplasia, Abnormal pulmonary situs morphology, Abnormal EKG, T-wave inversion, Abnor... |
ORPHA:1666 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Diabetes insipidus, Congestive heart failure, Atrial septal defect |
ORPHA:500533 |
Joubert Syndrome 30 |
|
Apnea, Tachypnea |
OMIM:617622 |
Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
Tetanus |
|
Tachycardia, Bradycardia, Hypertension |
ORPHA:3299 |
Carney Complex, Type 1 |
|
Thyroid carcinoma, Pituitary adenoma, Congestive heart failure, Pheochromocytoma, Cardiac myxoma,... |
OMIM:160980 |
Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Reticulocytosis, P... |
ORPHA:288 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Respiratory insufficiency, Abnormal aortic morphology, Ventricular septal defect, Abnormality of ... |
ORPHA:1166 |
Alstrom Syndrome |
|
Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased response to growth hormone stimul... |
OMIM:203800 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Respiratory tract infection, Perianal abscess, Bronchiectasis, Impaired n... |
ORPHA:2968 |
Immune-Mediated Necrotizing Myopathy |
|
Raynaud phenomenon, Myocarditis, Palpitations, Congestive heart failure |
ORPHA:206569 |
Relapsing Fever |
|
Hypotension, Leukopenia, Anemia, Neutrophilia, Epistaxis, Leukocytosis, Thrombocytopenia, Tachyca... |
ORPHA:91547 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly |
OMIM:611590 |
Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Congenital laryngeal stridor |
ORPHA:2254 |
Hereditary Spherocytosis |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolyti... |
ORPHA:822 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
Brain-Lung-Thyroid Syndrome |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Asthma, Respiratory ... |
ORPHA:209905 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ventricular dia... |
ORPHA:75565 |
Syndromic Diarrhea |
|
Patent ductus arteriosus, Hypothyroidism, Splenomegaly, Hepatic fibrosis, Hypoplasia of the thymu... |
ORPHA:84064 |
Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory failure, Dyspnea, Respiratory insufficiency due to muscle weakness |
ORPHA:352447 |
Cinca Syndrome |
|
Leukocytosis, Anemia, Eosinophilia, Hepatosplenomegaly |
OMIM:607115 |
Cocaine Intoxication |
|
Hypotension, Pneumothorax, Ischemic stroke, Ventricular arrhythmia, Supraventricular arrhythmia, ... |
ORPHA:90068 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Prolonged neonatal jaundice, Transient ischemic attack, Microangiopathic hemolytic anemia, Jaundi... |
OMIM:274150 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect, Episodic tachypnea |
OMIM:615160 |
Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Restrictive cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Intermitt... |
OMIM:264800 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Respiratory failure, Ventilator dependence with inability to wean, Inspiratory stridor, Tachypnea |
OMIM:604320 |
Sitosterolemia 1 |
|
Stomatocytosis, Carotid artery stenosis, Anemia, Reticulocytosis, Episodic hemolytic anemia, Chro... |
OMIM:210250 |
Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
Joubert Syndrome 3 |
|
Neonatal breathing dysregulation, Episodic tachypnea, Atrial septal defect, Central apnea |
OMIM:608629 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Snakebite Envenomation |
|
Respiratory paralysis, Ecchymosis, Epistaxis, Erythema, Respiratory failure, Angioedema |
ORPHA:449285 |
Agnathia-Otocephaly Complex |
|
Tracheomalacia, Pulmonary hypoplasia, Respiratory distress |
OMIM:202650 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Cerebellar hemorrhage, Elevated hepatic transaminase, Congestive heart fail... |
ORPHA:99901 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Congestive heart failure, Dilated cardiomyopathy, Elevated circula... |
OMIM:609015 |
Laubry-Pezzi Syndrome |
|
Elevated pulmonary artery pressure, Patent foramen ovale, Right ventricular outlet tract obstruct... |
ORPHA:99094 |
Joubert Syndrome 9 |
|
Apnea, Hepatic fibrosis, Episodic tachypnea |
OMIM:612285 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Acrocyanosis |
ORPHA:1867 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Palmoplantar cutis laxa, Respiratory distress, Central apnea, Re... |
OMIM:616482 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Type I diabetes mellitus, Autoimmune hemolytic anemia, Lymphadenopathy, Hemoph... |
OMIM:301078 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure, Reduced subcutaneous adipose tissue |
ORPHA:363400 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Hyperventilation, Tachypnea |
OMIM:253270 |
Biotinidase Deficiency |
|
Apnea, Splenomegaly, Hepatomegaly, Tachypnea |
OMIM:253260 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Patent ductus arteriosus, Ventricular septal defect, Asthma, Atrial septal defect, Pulmonary arte... |
ORPHA:79345 |
Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Ventricular arrhythmia, Supraventricular arrhythmia, Pancreatitis, Congestive heart failure, Hepa... |
ORPHA:280365 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Cardiomyopathy |
OMIM:310200 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Increased pulmonary vascular resis... |
ORPHA:99104 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Abnormal heart morphology, Episodic tachypnea |
ORPHA:2872 |
Mitochondrial Phosphate Carrier Deficiency |
|
Respiratory insufficiency, Cyanosis |
OMIM:610773 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Hereditary Hemorrhagic Telangiectasia |
|
Pulmonary arterial hypertension, Pulmonary embolism, Cirrhosis, Hepatic failure, Mucosal telangie... |
ORPHA:774 |
Odontochondrodysplasia |
|
Patent ductus arteriosus, Respiratory distress, Death in infancy |
ORPHA:166272 |
Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Abnormal pulmonary interstitial morphology, ... |
ORPHA:77259 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Pleural effusion, Abnormal vena cava morphology, Palpitations, Hepatomegaly, Tricuspid regurgitat... |
ORPHA:1677 |
Restrictive Dermopathy 2 |
|
Cyanosis, Respiratory distress |
OMIM:619793 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Sheehan Syndrome |
|
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Decreased c... |
ORPHA:91355 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Tachypnea |
OMIM:620085 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Pulmonary hypoplasia, Respiratory distress, Stillbirth |
OMIM:151210 |
Barth Syndrome |
|
Endocardial fibroelastosis, Dilated cardiomyopathy, Increased left ventricular end-diastolic volu... |
OMIM:302060 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Respiratory failure, Restrictive ventilatory defect |
OMIM:606612 |
Fanconi Renotubular Syndrome 5 |
|
Decreased DLCO, Lung adenocarcinoma, Pulmonary fibrosis, Emphysema |
OMIM:618913 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Coronary artery stenosis, Pancreatitis, Angina pectoris, Abnormal cardiomyocyte morphology, Diabe... |
ORPHA:565612 |
Beckwith-Wiedemann Syndrome |
|
Hypothyroidism, Adrenocortical carcinoma, Enlarged kidney, Polycythemia, Hepatoblastoma, Hypertro... |
ORPHA:116 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation |
OMIM:603689 |
Thymoma |
|
Obstruction of the superior vena cava, Leukemia, Imbalanced hemoglobin synthesis, Neoplasm of the... |
ORPHA:99867 |
Geleophysic Dysplasia 3 |
|
Respiratory failure, Sleep apnea, Pneumonia, Dyspnea |
OMIM:617809 |
Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency, Death in infancy, Jaundice, Respiratory distress, Death in adolescence... |
OMIM:615512 |
Fish-Eye Disease |
|
Atherosclerosis, Angina pectoris, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Respiratory distress, Pancytopenia, Persistence of hemoglobin F, ... |
OMIM:260400 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
Familial Thrombocytosis |
|
Pulmonary arterial hypertension, Acute myeloid leukemia, Cerebral ischemia, Transient ischemic at... |
ORPHA:71493 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Carotid artery calcification, Cardiomegaly, Abdominal aortic calcification, Dilated cardiomyopath... |
OMIM:208000 |
Multiple Carboxylase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:148 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphati... |
ORPHA:98849 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis, Congestive heart failure, Cardiomyopathy |
ORPHA:52430 |
Optic Atrophy 8 |
|
Abnormality of pattern visual evoked potentials, Optic atrophy |
OMIM:616648 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Gaucher Disease, Perinatal Lethal |
|
Petechiae, Purpura, Pulmonary hypoplasia, Respiratory distress, Apnea, Neonatal death |
OMIM:608013 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Exertional dyspnea, ... |
ORPHA:98915 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect, Recurrent sinusitis, Pulmonary artery... |
ORPHA:85202 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Pneumothorax |
ORPHA:445038 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Hypertensio... |
OMIM:617253 |
Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Persistent fetal circulation, Ventricular septal defect, Pericar... |
ORPHA:363705 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Pneumothorax, Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissect... |
ORPHA:91387 |
Nocardiosis |
|
Pneumothorax, Productive cough, Pleuritis, Respiratory distress, Emphysema, Pleural effusion, Dys... |
ORPHA:31204 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Right ventricular dilatation, First degree atrioventricular block, Left ... |
OMIM:615616 |
Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:100026 |
Arterial Tortuosity Syndrome |
|
Aortic root aneurysm, Vascular dilatation, Abnormal carotid artery morphology, Cardiac arrest, Ao... |
ORPHA:3342 |
3-Methylglutaconic Aciduria, Type Viii |
|
Patent ductus arteriosus, Respiratory failure, Death in infancy, Jaundice, Apnea, Hypopnea, Respi... |
OMIM:617248 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... |
OMIM:603554 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure |
OMIM:613954 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Hypoventilation, Aspiration pneumonia, Respiratory distress, Apnea, Recurrent pneumonia |
ORPHA:314655 |
Classic Multiminicore Myopathy |
|
Mitral valve prolapse, Right ventricular failure, Congestive heart failure, Right ventricular hyp... |
ORPHA:324604 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased circulating prolactin concentration, Increased pituitary glycoprotein hormone alpha sub... |
ORPHA:90674 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
Diffuse Cutaneous Mastocytosis |
|
Hypotension, Lymphocytosis, Gastrointestinal hemorrhage, Myeloproliferative disorder, Abnormality... |
ORPHA:79456 |
Arnold-Chiari Malformation Type Ii |
|
Apnea, Cyanosis, Pneumonia, Inspiratory stridor |
ORPHA:1136 |
Oculocutaneous Albinism Type 1 |
|
Depigmented fundus, Optic nerve misrouting, Hypoplasia of the fovea, Abnormal morphology of the c... |
ORPHA:352731 |
Phaver Syndrome |
|
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta |
ORPHA:2876 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
Meckel Syndrome 14 |
|
Cardiorespiratory arrest, Cyanosis, Pneumothorax, Pulmonary hypoplasia |
OMIM:619879 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Dyspnea, Respiratory distress, Cough |
ORPHA:86812 |
Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Exertional dyspnea, Productive cough, Pancytopenia, Diffuse alveolar hemorrha... |
ORPHA:520 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Congestive heart failure, Acute pancreatitis, Abnormal heart morph... |
ORPHA:26791 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos... |
ORPHA:911 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Respiratory distre... |
ORPHA:348 |
Q Fever |
|
Pericardial effusion, Hepatosplenomegaly, Pleural effusion, Pericarditis, Abnormal left ventricul... |
ORPHA:781 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Anemia, Hematochezia, Eosinophilia |
ORPHA:2070 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:276621 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Patent ductus arteriosus, Telangiectasia, Respiratory distress |
OMIM:608799 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Death in infancy |
OMIM:610678 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Angina pectoris, Congestive heart failure |
OMIM:176670 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Thyroid Lymphoma |
|
Upper airway obstruction, Dyspnea, Respiratory distress, Stridor |
ORPHA:97285 |
Esophageal Atresia |
|
Bronchitis, Cyanosis, Aspiration, Respiratory distress, Chronic pulmonary obstruction, Laryngotra... |
ORPHA:1199 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Coarctation of aorta, Hy... |
OMIM:618164 |
Atypical Rett Syndrome |
|
Abnormal pattern of respiration, Sudden episodic apnea, Episodic tachypnea |
ORPHA:3095 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Abnormality of visual evoked potentials, Abnormal retinal nerve fiber... |
ORPHA:1215 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Pericardial effusion, Adrenal insufficiency, Abnormal left ventricul... |
ORPHA:99827 |
Aminopterin/Methotrexate Embryofetopathy |
|
Pulmonary artery atresia, Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1908 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Respiratory failure, Obstructive sleep apnea, Stridor, Intercostal muscle weakness |
OMIM:606071 |
Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
Folinic Acid-Responsive Seizures |
|
Apnea, Respiratory distress |
ORPHA:79097 |
Common Variable Immunodeficiency |
|
Abnormality of the liver, Hemolytic anemia, Bronchiectasis, Recurrent respiratory infections, Rec... |
ORPHA:1572 |
Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Pheochromocytoma,... |
OMIM:171300 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
Glycogen Storage Disease Ii |
|
Respiratory insufficiency, Right axis deviation, Recurrent respiratory infections, Sinus tachycar... |
OMIM:232300 |
Alagille Syndrome 2 |
|
Hypertension, Atrial septal defect, Cholestasis, Peripheral pulmonary artery stenosis, Cholestati... |
OMIM:610205 |
Microscopic Polyangiitis |
|
Congestive heart failure, Pericarditis, Epistaxis, Gastrointestinal hemorrhage, Arrhythmia, Perit... |
ORPHA:727 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Death in childhood, Respiratory distress |
OMIM:615597 |
Sepsis In Premature Infants |
|
Hypotension, Splenomegaly, Jaundice, Hepatomegaly, Decreased liver function, Bradycardia, Tachyca... |
ORPHA:90051 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated c... |
OMIM:250790 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Calcification of the aorta, Pancytopenia, Hepatomegaly, Cardiomega... |
OMIM:231005 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Congestive heart failure |
ORPHA:3077 |
Lymphatic Malformation 7 |
|
Pleural effusion, Respiratory distress, Pulmonary edema, Chylothorax |
OMIM:617300 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Central apnea |
OMIM:618291 |
Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Tachypnea |
ORPHA:765 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Recurrent sinusitis, Hepatosplenomegaly, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly,... |
OMIM:615688 |
Hardikar Syndrome |
|
Portal inflammation, Hepatosplenomegaly, Pulmonary artery stenosis, Hepatomegaly, Hematemesis, Th... |
OMIM:301068 |
Gm1-Gangliosidosis, Type I |
|
Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepa... |
OMIM:230500 |
Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Diabetes mellitus, Congestive heart failure, Abnormal EKG |
OMIM:229300 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Respiratory failure, Telangiectasia of the skin |
ORPHA:679 |
Hughes-Stovin Syndrome |
|
Pulmonary arterial hypertension, Pulmonary embolism, Pulmonary artery aneurysm, Arterial stenosis... |
ORPHA:228116 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory tract infection, Hypercapnia, Dyspnea, Respiratory failure, Respiratory failure requi... |
ORPHA:79138 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Enlarged pituitary gland, Pericardial effusion, Ventricular arrhythmia, Supraventric... |
ORPHA:91347 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Facial telangiectasia, Hepatosplenomegaly, Hepatomegaly, Cervical lymphadenopathy, Splenomegaly, ... |
OMIM:602782 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... |
OMIM:613470 |
Diaphanospondylodysostosis |
|
Respiratory insufficiency, Tracheomalacia, Pulmonary hypoplasia, Respiratory distress |
OMIM:608022 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Anemia, Hepatic arteriovenous malformation, Telangiectasia, Cerebral arteriovenous malformation, ... |
OMIM:175050 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Neoplasm of the thyroid gland, Congestive heart failure |
ORPHA:137608 |
Ethylene Glycol Poisoning |
|
Cyanosis, Pulmonary edema, Abnormal pattern of respiration, Episodic respiratory distress, Tachypnea |
ORPHA:31826 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... |
ORPHA:226307 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Abdominal sit... |
OMIM:306955 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Exertional dyspnea, Respiratory distress, Respiratory failure, Death in childhood, Respiratory in... |
OMIM:220110 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... |
OMIM:610338 |
Kasabach-Merritt Syndrome |
|
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Respiratory distress, Reticulocytosis, Hep... |
ORPHA:2330 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Respiratory insufficiency, Abnormal pulmonary interstitial morphology, Anemia, Cirrhosis, Respira... |
OMIM:613658 |
Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Generalized lymphadenopathy, Hepatosplenomegaly, Pleural effusion, E... |
ORPHA:3260 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Anemia, Apnea, Chronic rhinitis, Lymphadenopathy, Abnormal pulmo... |
ORPHA:667 |
Metatropic Dysplasia |
|
Respiratory insufficiency, Respiratory failure |
OMIM:156530 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:29072 |
Pure Autonomic Failure |
|
Orthostatic hypotension, Syncope, Abnormality of circulating catecholamine level |
ORPHA:441 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Recurrent respiratory infections, Respiratory distress |
ORPHA:329178 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Pulmonary fibrosis, Respiratory distress |
OMIM:612852 |
Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
Amyotrophic Lateral Sclerosis |
|
Respiratory failure, Abnormal respiratory system physiology, Dyspnea |
ORPHA:803 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating hormone le... |
OMIM:613239 |
Scorpion Envenomation |
|
Pulmonary edema, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST s... |
ORPHA:466677 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Ventricular septal defect, Interface hepatitis, Lymphopenia, Congenital... |
OMIM:243150 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Subconjunctival hemorrhage, Vasculitis in the skin, Thrombocytopenia, Decreased me... |
OMIM:617718 |
Glossopharyngeal Neuralgia |
|
Jaw claudication, Syncope, Bradycardia |
ORPHA:221098 |
Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, Tachypnea, Hypercapnia, Premature ventricular contraction, Ventricu... |
ORPHA:423 |
Mucopolysaccharidosis-Plus Syndrome |
|
Patent ductus arteriosus, Recurrent bronchopulmonary infections, Respiratory distress, Recurrent ... |
OMIM:617303 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Recurrent respiratory infections, Respiratory distress |
OMIM:619383 |
Elliptocytosis 1 |
|
Elliptocytosis, Splenomegaly, Hemolytic anemia, Jaundice |
OMIM:611804 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory insufficiency, Respiratory distress |
ORPHA:1145 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Elevated hepatic transaminase, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615895 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Irregular respiration, Inspiratory stridor, Respiratory distress, Death in infancy |
OMIM:604377 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:2707 |
Citrullinemia Type I |
|
Tachypnea |
ORPHA:247525 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... |
ORPHA:70591 |
D-Glyceric Aciduria |
|
Bradycardia |
OMIM:220120 |
Arima Syndrome |
|
Cirrhosis, Anemia, Hepatic fibrosis, Hypertension, Hepatic steatosis, Dyspnea, Hepatomegaly, Tach... |
OMIM:243910 |
Pancreatic insufficiency, combined exocrine |
|
Exocrine pancreatic insufficiency, Congestive heart failure |
OMIM:260450 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Aarskog-Scott Syndrome |
|
Congestive heart failure |
ORPHA:915 |
Congenital Disorder Of Glycosylation, Type Im |
|
Bradycardia, Dilated cardiomyopathy |
OMIM:610768 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Abnormality of the anterior pituitary, Ventricular septal defect, Posterior pituitary hypoplasia,... |
ORPHA:75389 |
22Q11.2 Deletion Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Asthma, Abnormal lung lobation, Purpura, Chronic pu... |
ORPHA:567 |
Primary Sclerosing Cholangitis |
|
Spider hemangioma, Hepatocellular carcinoma, Elevated hepatic transaminase, Cholangiocarcinoma, H... |
ORPHA:171 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea, Cyanosis |
OMIM:261680 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial anomalous pulmonary venous return, Cyanosis, Truncus arteriosus, Death in infancy |
OMIM:617478 |
Joubert Syndrome |
|
Episodic tachypnea, Apnea, Abnormal pattern of respiration, Situs inversus totalis, Abnormality o... |
ORPHA:475 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Cutis Laxa, Autosomal Dominant 1 |
|
Bronchiectasis, Emphysema, Progeroid facial appearance, Dyspnea, Peripheral pulmonary artery sten... |
OMIM:123700 |
Cholera |
|
Hypotension, Aspiration pneumonia, Tachycardia, Hypovolemic shock, Stroke, Hyperventilation, Tach... |
ORPHA:173 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Increased hepatic glycogen content, Cardiomegaly, Congestive heart failure, Cardiomyopathy |
OMIM:619259 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Reduced natural killer cell count, Perianal abscess, Lymphocytosis, Thrombocytosis, Decreased pro... |
OMIM:301074 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Ventricular septal defect, Hypertension, Bradycardia, Tachycardia |
OMIM:614653 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Ventricular septal defect, Reticulocytopenia, Radial artery a... |
ORPHA:124 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Double aortic arch, Right aortic arch with mi... |
OMIM:192430 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor |
OMIM:207950 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure |
OMIM:616505 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
X-Linked Lymphoproliferative Disease |
|
Increased B cell count, Reduced natural killer cell count, Myocarditis, T lymphocytopenia, B lymp... |
ORPHA:2442 |
Achondroplasia |
|
Pulmonary hypoplasia, Upper airway obstruction, Respiratory distress, Death in infancy |
OMIM:100800 |
Interstitial Lung And Liver Disease |
|
Respiratory insufficiency, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid... |
OMIM:615486 |
Cogan Syndrome |
|
Anemia, Large vessel vasculitis, Aortic regurgitation, Thrombocytosis, Leukocytosis, Vasculitis |
ORPHA:1467 |
Leigh Syndrome With Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... |
ORPHA:70474 |
Simple Cryoglobulinemia |
|
Raynaud phenomenon, Congestive heart failure, Hypertension, Pericarditis, Myocardial infarction, ... |
ORPHA:91139 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Hypertension, Reticulocytosis, Schistocytosis, Thrombocytopenia |
OMIM:235400 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Bradycardia |
ORPHA:565624 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent foramen ovale, Secundum atrial septal defect, Congestive heart failure, Cardiomyopathy |
OMIM:616866 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory insufficiency, Respiratory failure |
OMIM:135100 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Abnormal car... |
ORPHA:251071 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure, Recurrent pneumonia, Respiratory failure requiring assisted ventilation |
ORPHA:496641 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Hypoplasia of right ventricle, Pulmonary artery stenosis, Double out... |
ORPHA:2255 |
Boutonneuse Fever |
|
Respiratory failure, Petechiae |
ORPHA:83313 |
Hyperkalemic Periodic Paralysis |
|
Congestive heart failure, Arrhythmia |
ORPHA:682 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Spinal Arteriovenous Metameric Syndrome |
|
Congestive heart failure |
ORPHA:53721 |
Mogs-Cdg |
|
Hypothyroidism, Hypoventilation, Pulmonary edema, Left ventricular hypertrophy, Respiratory distr... |
ORPHA:79330 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Heart murmur |
ORPHA:1054 |
Hypoglossia With Situs Inversus |
|
Upper airway obstruction, Respiratory distress |
OMIM:612776 |
Fabry Disease |
|
Diabetes insipidus, Mucosal telangiectasiae, Transient ischemic attack, Bundle branch block, Tela... |
ORPHA:324 |
Bloom Syndrome |
|
Bronchitis, Cutaneous photosensitivity, Respiratory tract infection, Rhinitis, Telangiectasia, Ch... |
ORPHA:125 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Respiratory insufficiency, Cyanosis, Sudden episodic apnea |
ORPHA:159 |
Lead Poisoning |
|
Abnormal T cell morphology, Anemia, Asthma, Decreased circulating osteocalcin level, Abnormal res... |
ORPHA:330015 |
Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Pulmonary arterial hypertension, Elevated circulating alanine aminotransfer... |
OMIM:614921 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Pulmonary carcinoid tumor, Intracranial hemorrhage, Congestive heart fai... |
ORPHA:363618 |
Neuroleptic Malignant Syndrome |
|
Hypotension, Pulmonary embolism, Elevated hepatic transaminase, Hypertension, Hypertensive crisis... |
ORPHA:94093 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Elevated circulating alanine aminotransferase concentration, Perimembranous ventricular septal de... |
OMIM:608779 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Pulmonary artery atresia, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus |
OMIM:620113 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased proportion of CD4-positive T cells, Leukocytosis, Vasculitis |
OMIM:617099 |
Joubert Syndrome With Oculorenal Defect |
|
Apnea, Abnormality of the hypothalamus-pituitary axis, Tachypnea |
ORPHA:2318 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... |
OMIM:218700 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Respiratory failure, Death in childhood, Bradypnea |
OMIM:617186 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Respiratory insufficiency, Death in infancy, Apnea, Respiratory failure, Neonatal respiratory dis... |
OMIM:608836 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress |
ORPHA:89844 |
Oculocerebrorenal Syndrome Of Lowe |
|
Respiratory insufficiency, Recurrent respiratory infections, Atelectasis, Death in infancy |
ORPHA:534 |
Toxic Epidermal Necrolysis |
|
Abnormal pleura morphology, Respiratory distress, Restrictive ventilatory defect, Cough, Erythema... |
ORPHA:537 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure |
OMIM:618804 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Congestive heart failure, Hepatosplenomegaly, Abnormal heart morpholog... |
ORPHA:354 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Hyperaldosteronism, Pericardial effusion, Congestive heart failure, Dilated... |
ORPHA:73224 |
Schimke Immuno-Osseous Dysplasia |
|
Pulmonary arterial hypertension, Ischemic stroke, Cerebral ischemia, Abnormality of thyroid physi... |
ORPHA:1830 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Death in infancy |
OMIM:614862 |
Hemorrhagic Fever-Renal Syndrome |
|
Pulmonary edema, Petechiae, Respiratory distress, Ecchymosis, Pleural effusion, Epistaxis, Dyspne... |
ORPHA:340 |
Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal T-wave, Hypocapnia, Sinus tachycardia, Abnormal pulse pressure, ST segment ... |
ORPHA:466650 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Bone marrow hypocell... |
ORPHA:3261 |
Congenital Fiber-Type Disproportion Myopathy |
|
Aspiration pneumonia, Weakness of muscles of respiration, Hypoxemia, Hypercapnia, Intercostal mus... |
ORPHA:2020 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
Cryptococcosis |
|
Nodular pattern on pulmonary HRCT, Respiratory distress, Pleural effusion, Dyspnea, Cough, Pneumonia |
ORPHA:1546 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Myocarditis, Eosinophilia, Cardiac arrest |
ORPHA:139402 |
Dermatomyositis |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morph... |
ORPHA:221 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Death in childhood |
OMIM:619847 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Palpitations, Tachycardia, Goiter |
OMIM:188580 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Cyanosis, Palate telangiectasia, Nasal mucosa telangiectasia, Spontaneous, recurrent epistaxis, P... |
OMIM:610655 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Unilateral Polymicrogyria |
|
Epistaxis, Pulmonary arteriovenous malformation, Apnea, Cyanosis |
ORPHA:268943 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory insufficiency, Respiratory failure, Pulmonary arterial hypertension |
OMIM:613845 |
Colchicine Poisoning |
|
Hypotension, Hypovolemia, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis |
ORPHA:31824 |
Monosomy 18Q |
|
Hypothyroidism, Absence of the pulmonary valve, Left-to-right shunt, Secundum atrial septal defec... |
ORPHA:1600 |
Mucopolysaccharidosis, Type Ii |
|
Abnormal heart valve morphology, Congestive heart failure, Hepatosplenomegaly, Hepatomegaly, Sple... |
OMIM:309900 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Aceruloplasminemia |
|
Cirrhosis, Hepatic fibrosis, Congestive heart failure, Diabetes mellitus, Elevated hepatic iron c... |
ORPHA:48818 |
Down Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Hypothyroidism, Atrioventricular canal d... |
OMIM:190685 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Criss-Cross Heart |
|
Respiratory insufficiency, Cyanosis |
ORPHA:1461 |
Osteogenesis Imperfecta, Type Ii |
|
Pulmonary insufficiency, Congestive heart failure |
OMIM:166210 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Respiratory insufficiency, Patent ductus arteriosus, Death in infancy, Dyspnea, Respiratory failu... |
OMIM:610505 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Decreased response to growth hormone s... |
OMIM:601808 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Pulmonary hypoplasia, Coarctation of aorta, Hepatic agenesis, Pulmonar... |
ORPHA:1692 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis |
ORPHA:676 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Atrioventricular canal defect, Biliary cirrhosis, Unbalanced atrioventricular canal defect, Cardi... |
OMIM:619534 |
Pyomyositis |
|
Sudden cardiac death, Recurrent cutaneous abscess formation, Leukocytosis |
ORPHA:764 |
Ogden Syndrome |
|
Cardiogenic shock, Arrhythmia, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:276432 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Abnormal pulmonary interstitial morphology, Respiratory distress, Fragile skin, Erythema, Neonata... |
OMIM:614748 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation |
ORPHA:96 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated hepatic transaminase, Hepatic failure, Left ventricular hypertrophy, Congestive heart fa... |
OMIM:619355 |
Serotonin Syndrome |
|
Hypotension, Tachycardia, Hypertension, Tachypnea |
ORPHA:43116 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypogonadism, Hypertension, Congestive heart failure, Hepatosplenomegaly, Gastrointestinal hemorr... |
ORPHA:85450 |
Werner Syndrome |
|
Hypogonadism, Thyroid carcinoma, Type II diabetes mellitus, Hypertension, Congestive heart failur... |
ORPHA:902 |
Ivic Syndrome |
|
Thrombocytopenia, Leukocytosis, Arrhythmia |
ORPHA:2307 |
Digeorge Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Asthma, Recurrent sinusitis, Chronic pulmonary obst... |
OMIM:188400 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Diabetes insipidus, Prolonged neonatal jaundice, Central sleep apnea |
ORPHA:423479 |
Arterial Tortuosity Syndrome |
|
Aortic tortuosity, Aortic root aneurysm, Ventricular hypertrophy, Ischemic stroke, Hypertension, ... |
OMIM:208050 |
Tarp Syndrome |
|
Apnea, Cyanosis, Pulmonary hypoplasia |
ORPHA:2886 |
Martsolf Syndrome 1 |
|
Hypogonadotropic hypogonadism, Cardiac arrest, Congestive heart failure, Cardiomyopathy |
OMIM:212720 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1389 |
Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Neutropenia |
ORPHA:1667 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Pulmonary arterial hypertension, Patent foramen ovale, Congestive heart failure, Atrial septal de... |
ORPHA:505248 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Epistaxis, Thrombocytopenia, Increased mean plate... |
OMIM:153670 |
X-Linked Intellectual Disability, Nascimento Type |
|
Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Pulmonary arterial... |
ORPHA:163956 |
Alagille Syndrome |
|
Ventricular septal defect, Telangiectasia of the skin, Hypertension, Atrial septal defect, Reduce... |
ORPHA:52 |
Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Tetralogy of Fallot, Dysp... |
ORPHA:261494 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Acrocyanosis, Decreased sensitivity to hypoxemia |
OMIM:223900 |
Osteogenesis Imperfecta, Type X |
|
Recurrent pneumonia, Chronic lung disease, Death in childhood, Respiratory distress |
OMIM:613848 |
Nasolacrimal Duct Cyst |
|
Abnormal breath sound, Intercostal retractions, Paroxysmal dyspnea, Stridor, Episodic respiratory... |
ORPHA:141083 |
Diffuse Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Hypertensive crisis, Congestive heart failure, Telangiectasia of... |
ORPHA:220393 |
Listeriosis |
|
Jaundice, Respiratory distress, Miscarriage, Respiratory failure, Pneumonia |
ORPHA:533 |
Psoriasis 14, Pustular |
|
Neutrophilia, Leukocytosis |
OMIM:614204 |
Capillary Malformation-Arteriovenous Malformation |
|
Telangiectasia, Cerebral ischemia, Congestive heart failure, Epistaxis, Abnormal heart morphology... |
ORPHA:137667 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress |
ORPHA:544503 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent ductus arteriosus, Patent foramen ovale, Absent gallbladder, Pancreatic hypoplasia, Biliar... |
OMIM:600001 |
Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Patent ductus arteriosus, Recurrent respiratory infections, Respiratory distress |
OMIM:300968 |
Waldenström Macroglobulinemia |
|
Retinal hemorrhage, Congestive heart failure, Epistaxis, Gastrointestinal hemorrhage, Hepatomegal... |
ORPHA:33226 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
Diabetic Embryopathy |
|
Abnormal aortic morphology, Abnormality of the pancreas, Ventricular septal defect, Abnormality o... |
ORPHA:1926 |
Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae, Death in infancy |
OMIM:602473 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Apnea, Cyanosis |
OMIM:619580 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Hypoplastic right hear... |
OMIM:616894 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Patent ductus arteriosus |
ORPHA:3304 |
Kawasaki Disease |
|
Hepatitis, Jaundice, Abnormal heart valve morphology, Congestive heart failure, Pericarditis, Cho... |
ORPHA:2331 |
Infantile Krabbe Disease |
|
Respiratory failure, Respiratory distress |
ORPHA:206436 |
3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Respiratory distress |
OMIM:616271 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Nijmegen Breakage Syndrome |
|
Cutaneous photosensitivity, Recurrent sinopulmonary infections, Recurrent pneumonia, Respiratory ... |
ORPHA:647 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:2971 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumothorax, Respiratory distress, Fragile skin, Dyspnea, Stridor, Respiratory failure, Pneumonia |
ORPHA:79404 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hepatic failure, Cirrhosis, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic transami... |
OMIM:617156 |
Yellow Fever |
|
Elevated circulating alanine aminotransferase concentration, Pancreatic hyperplasia, Reduced left... |
ORPHA:99829 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Annular pancreas, Cardiomegaly, Bradycardia, Cholelithiasis |
ORPHA:97297 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Apnea, Respiratory failure |
OMIM:617301 |
Brucellosis |
|
Pleural effusion, Pericarditis, Hepatomegaly, Thrombocytopenia, Pneumonia, Splenomegaly, Bronchit... |
ORPHA:1304 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormality of visual evoked potentials |
OMIM:617523 |
Oculocutaneous Albinism Type 1A |
|
Abnormal optic nerve morphology, Hypoplasia of the fovea, Abnormality of visual evoked potentials... |
ORPHA:79431 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent aspiration pneumonia, Apnea, Chronic lung disease, Recurrent respiratory infections, Ta... |
ORPHA:397715 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Optic disc pallor, Abnormality of visual evoked potentials, Optic atrophy |
OMIM:601152 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Hypertension, Reticulocytosis, Myocardial infarction, Schistoc... |
ORPHA:90038 |
Neutral Lipid Storage Myopathy |
|
Chronic pancreatitis, Pineal cyst, Elevated hepatic transaminase, Congestive heart failure, Hepat... |
ORPHA:98908 |
Marburg Hemorrhagic Fever |
|
Hypotension, Hypovolemia, Jaundice, Pancreatitis, Elevated hepatic transaminase, Internal hemorrh... |
ORPHA:99826 |
Stuve-Wiedemann Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy... |
OMIM:601559 |
Tuberous Sclerosis Complex |
|
Respiratory tract infection, Respiratory distress, Respiratory failure, Pulmonary lymphangiomyoma... |
ORPHA:805 |
Mucopolysaccharidosis Type 1 |
|
Abnormal aortic valve morphology, Abnormal heart valve morphology, Congestive heart failure, Hype... |
ORPHA:579 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormality of visual evoked potentials |
OMIM:601455 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials |
ORPHA:320401 |
Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Inhalational Anthrax |
|
Dyspnea, Respiratory distress |
ORPHA:247257 |
Japanese Encephalitis |
|
Pulmonary edema, Respiratory paralysis, Irregular respiration, Respiratory distress, Abnormal pat... |
ORPHA:79139 |
Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta, Absent pulmonary arter... |
OMIM:600460 |
Rodrigues Blindness |
|
Nasal flaring, Ectodermal dysplasia |
OMIM:268320 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Neonatal respiratory distress, Tracheomalacia, Respiratory distress, Patent ductus arteriosus |
OMIM:217980 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Respiratory insufficiency, Cyanosis, Death in infancy, Apnea, Respiratory failure |
OMIM:252010 |
Familial Mediterranean Fever |
|
Pleuritis, Neutrophilia, Pleural effusion, Pericarditis, Leukocytosis, Hepatomegaly, Peritonitis,... |
OMIM:249100 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Pulmonary arterial hypertension, Respiratory distress, Patent ductus arteriosus |
ORPHA:2519 |
Niemann-Pick Disease Type C |
|
Respiratory insufficiency, Pulmonary infiltrates, Aspiration pneumonia, Jaundice, Abnormal lung m... |
ORPHA:646 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure |
ORPHA:88618 |
Mgat2-Cdg |
|
Recurrent upper and lower respiratory tract infections, Respiratory distress, Patent ductus arter... |
ORPHA:79329 |
Erdheim-Chester Disease |
|
Abnormal pericardium morphology, Diabetes insipidus, Retroperitoneal fibrosis, Abnormal aortic va... |
ORPHA:35687 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Hepatitis, Thyroiditis, Congestive heart f... |
ORPHA:391487 |
Noonan Syndrome |
|
Abnormality of the lymphatic system, Abnormal pulmonary valve morphology, Pulmonary artery stenos... |
ORPHA:648 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
Marfan Syndrome |
|
Aortic tortuosity, Ascending tubular aorta aneurysm, Descending aortic dissection, Mitral valve p... |
ORPHA:558 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
Osteopetrosis, Autosomal Recessive 5 |
|
Respiratory failure, Stillbirth |
OMIM:259720 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Leukopenia, Anemia, Pulmonary embolism, Hemolytic anemia, Jaundice, Abnormal erythrocyte enzyme l... |
ORPHA:447 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Aortic valve atresia, Mitral atresia, Microvesicular hepatic steatosis, Pulmonary edema, Bicuspid... |
OMIM:220111 |
Marfan Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Pneumothorax, Bicuspid aortic valve, Mitr... |
OMIM:154700 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Aortic root aneurysm, Pulmonary artery aneurysm, Pulmonary insufficiency, Vascular tortuosity, Pu... |
OMIM:614437 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Bilateral lung agenesis, Adrenal gland agenesis, Pulmonary hypoplasia,... |
OMIM:611812 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Emphysema |
OMIM:224690 |
Hereditary Angioedema Type 1 |
|
Dermatographic urticaria, Respiratory distress, Dyspnea, Inspiratory stridor, Urticaria |
ORPHA:100050 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618329 |
Abetalipoproteinemia |
|
Hypothyroidism, Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Congestive heart fail... |
ORPHA:14 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Central hypothyroidism, Ventricular septal defect, Dilation of Virchow-Robin spaces, Atrial septa... |
OMIM:300998 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Hypoventilation, Recurrent lower respiratory tract infections, Asthma, Cardiorespirator... |
ORPHA:293987 |
Noonan Syndrome With Multiple Lentigines |
|
Atrioventricular canal defect, Vascular dilatation, Abnormal mitral valve morphology, Bundle bran... |
ORPHA:500 |
Geleophysic Dysplasia 1 |
|
Mitral stenosis, Congestive heart failure, Hepatomegaly, Tricuspid stenosis, Aortic valve stenosis |
OMIM:231050 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure |
ORPHA:3240 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Respiratory insufficiency, Vascular dilatation, Pneumothorax, Dilatation of the ventricular cavit... |
ORPHA:90349 |
Leigh Syndrome |
|
Hypertrophic cardiomyopathy, Hepatic failure, Congestive heart failure, Ventricular septal defect |
ORPHA:506 |
Caroli Disease |
|
Cholelithiasis, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Liver absces... |
ORPHA:53035 |
Coffin-Siris Syndrome 4 |
|
Patent ductus arteriosus, Mitral atresia, Ventricular septal defect, Atrial septal defect, Pulmon... |
OMIM:614609 |
Familial Dysautonomia |
|
Abnormal pleura morphology, Recurrent respiratory infections, Acrocyanosis |
ORPHA:1764 |
Mepan Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:508093 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation |
OMIM:261990 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Respiratory distress |
OMIM:612863 |
Lethal Acantholytic Erosive Disorder |
|
Respiratory failure, Fragile skin |
ORPHA:158687 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Jaundice, Pulmonary hypoplasia, Recurrent pneumonia, Respiratory failure, Sponta... |
ORPHA:731 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Type I diabetes mellitus, Sinus bradycardia |
OMIM:618397 |
Oculofaciocardiodental Syndrome |
|
Patent ductus arteriosus, Mitral valve prolapse, Abnormal cardiac septum morphology, Peripheral p... |
ORPHA:2712 |
Congenital Myopathy 12 |
|
Pulmonary artery stenosis, Respiratory insufficiency due to muscle weakness |
OMIM:612540 |
Caroli Syndrome |
|
Leukopenia, Cirrhosis, Periportal fibrosis, Liver abscess, Hypersplenism, Jaundice, Cholangiocarc... |
ORPHA:480520 |
Eisenmenger Syndrome |
|
Pulmonary arterial hypertension, Cyanosis, Patent ductus arteriosus, Exertional dyspnea, Aortopul... |
ORPHA:97214 |
Charge Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Hypothyroidism, Gonadotropin deficiency,... |
OMIM:214800 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent respiratory infections, Interstitial pneumonitis, Respiratory distress, Pneumonia, Urti... |
ORPHA:37042 |
Pearson Syndrome |
|
Hypothyroidism, Adrenal insufficiency, Reticulocytosis, Hepatic steatosis, Hypoparathyroidism, He... |
ORPHA:699 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Congestive heart failure |
ORPHA:2505 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
Loeys-Dietz Syndrome 2 |
|
Aortic root aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Aortic arch aneurysm, ... |
OMIM:610168 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Acute lymphoblastic leukemia, Peripheral pulmonary artery stenosis, Te... |
OMIM:280000 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Apnea, Recurrent respiratory infections, Respiratory distress, Patent ductus arteriosus |
ORPHA:17 |
Kniest Dysplasia |
|
Tracheomalacia, Respiratory distress |
OMIM:156550 |
Orofaciodigital Syndrome Type 6 |
|
Apnea, Abnormal heart morphology, Episodic tachypnea |
ORPHA:2754 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress |
OMIM:251000 |
Coccidioidomycosis |
|
Pulmonary infiltrates, Parenchymal consolidation, Pleural empyema, Exudative pleural effusion, Re... |
ORPHA:228123 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
Mucolipidosis Ii Alpha/Beta |
|
Heart murmur, Congestive heart failure, Aortic regurgitation, Hypertrophic cardiomyopathy, Mitral... |
OMIM:252500 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Arterial rupture, Mitral valve prolapse, Congestive heart failure |
ORPHA:1900 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Obstructive sleep apnea, Atrial septal defect, Peripheral pulmonary artery stenosis |
ORPHA:436003 |
Poliomyelitis |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:2912 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
Recombinant 8 Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Pulmonary artery steno... |
ORPHA:96167 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Aortic root aneurysm, Patent ductus arteriosus, Patent foramen ovale, Right bundle branch block, ... |
OMIM:617506 |
Kikuchi-Fujimoto Disease |
|
Leukopenia, Anemia, Myocarditis, Lymphocytosis, Vasculitis in the skin, Thrombocytopenia, Neutrop... |
ORPHA:50918 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Retinal degeneration, Abnormality of visual evoked potentials, Abnormal amplitude of flash visual... |
ORPHA:168491 |
Pyruvate Carboxylase Deficiency |
|
Abnormal pattern of respiration, Hepatomegaly, Tachypnea |
ORPHA:3008 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Jaundice, Tachypnea |
OMIM:615751 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Abnormality of visual evoked potentials, Optic atrophy |
OMIM:256600 |
Joubert Syndrome 1 |
|
Neonatal breathing dysregulation, Hepatic fibrosis, Episodic tachypnea, Central apnea |
OMIM:213300 |
Adams-Oliver Syndrome 1 |
|
Pulmonary arterial hypertension, Ventricular septal defect, Bicuspid aortic valve, Hypertension, ... |
OMIM:100300 |
Micro Syndrome |
|
Abnormality of visual evoked potentials, Retinal coloboma, Optic atrophy, Abnormality of retinal ... |
ORPHA:2510 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Abnormality of visual evoked potentials |
ORPHA:1933 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Reduced alpha/beta synthesis ratio, Perimembranous ventricular septal ... |
OMIM:301040 |
Autosomal Dominant Hypocalcemia |
|
Hypotension, Congestive heart failure, Arrhythmia |
ORPHA:428 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Abnormality of visual evoked potentials |
ORPHA:314389 |
Vici Syndrome |
|
Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy, Atrial septal def... |
OMIM:242840 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials |
OMIM:125310 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Vitreous hemorrhage, Reduced hematocrit, Normochromic anemia |
ORPHA:91500 |
African Trypanosomiasis |
|
Third degree atrioventricular block, Abnormal EKG, Abnormality of circulating cortisol level, Jau... |
ORPHA:3385 |
Viss Syndrome |
|
Aortic tortuosity, Hypothyroidism, Ascending tubular aorta aneurysm, Pneumothorax, Carotid artery... |
OMIM:619472 |
Pelizaeus-Merzbacher Disease |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:702 |
Joubert Syndrome 2 |
|
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea |
OMIM:608091 |
Prader-Willi Syndrome Due To Translocation |
|
Patent ductus arteriosus, Recurrent respiratory infections, Respiratory distress |
ORPHA:177907 |
Waardenburg Syndrome Type 2 |
|
Abnormality of the pulmonary artery |
ORPHA:895 |
Myasthenia Gravis |
|
Acrocyanosis, Dyspnea |
ORPHA:589 |
Auriculocondylar Syndrome |
|
Snoring, Obstructive sleep apnea, Respiratory distress |
ORPHA:137888 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress |
ORPHA:50810 |
X-Linked Mandibulofacial Dysostosis |
|
Pulmonic stenosis, Abnormality of the pulmonary artery, Abnormal mitral valve morphology |
ORPHA:1131 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Pulmonary artery stenosis |
ORPHA:435938 |
Costello Syndrome |
|
Respiratory insufficiency, Pneumothorax, Respiratory failure, Tracheomalacia, Obstructive sleep a... |
OMIM:218040 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Abnormality of visual evoked potentials, Optic atrophy |
OMIM:616875 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Congestive heart failure, Noncompaction cardiomyopathy, Tricuspid regurgitation |
ORPHA:508542 |
Atypical Werner Syndrome |
|
Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus, Mitral valve prolapse, Congestive hear... |
ORPHA:79474 |
Loeys-Dietz Syndrome 1 |
|
Aortic root aneurysm, Patent ductus arteriosus, Pulmonary artery aneurysm, Dilatation of the duct... |
OMIM:609192 |
Mohr-Tranebjaerg Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:52368 |
Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Systolic heart murmur, Portal inflammation, Hyperinsulinemic hypogly... |
OMIM:619991 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
Nk-Cell Enteropathy |
|
Increased T cell count, Hematochezia |
ORPHA:263665 |
Oculopharyngodistal Myopathy 1 |
|
Aspiration, Reduced forced vital capacity, Respiratory distress, Hypercapnia, Restrictive ventila... |
OMIM:164310 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Acrocyanosis, Purpura, Erythema, Urticaria |
ORPHA:343 |
Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Acrocyanosis, Purpura, Erythema, Prolonged neonatal jaundice |
OMIM:225750 |
Encephalocraniocutaneous Lipomatosis |
|
Subvalvular aortic stenosis, Atrial septal defect, Ventricular septal defect, Peripheral pulmonar... |
OMIM:613001 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:485421 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
Acquired Purpura Fulminans |
|
Macular purpura, Acrocyanosis |
ORPHA:49566 |
Incontinentia Pigmenti |
|
Pulmonary arterial hypertension, Retinal hemorrhage, Cerebral ischemia, Congestive heart failure,... |
ORPHA:464 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatitis, Hepatomegaly, Tachypnea |
ORPHA:415 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Mitral regurgitation, Aortic valve stenosis,... |
OMIM:608328 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure |
ORPHA:254528 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Abnormality of visual evoked potentials |
OMIM:614457 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Respiratory distress |
OMIM:613309 |
Friedreich Ataxia 2 |
|
Concentric hypertrophic cardiomyopathy, Abnormal EKG, Diabetic ketoacidosis, Congestive heart fai... |
OMIM:601992 |
Ulbright-Hodes Syndrome |
|
Respiratory failure, Pulmonary hypoplasia, Pneumothorax, Respiratory distress |
ORPHA:3404 |
Infantile Neuroaxonal Dystrophy |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:35069 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
Spondyloepiphyseal Dysplasia Congenita |
|
Restrictive ventilatory defect, Respiratory distress |
OMIM:183900 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Respiratory failure, Death in infancy, Patent ductus arteriosus |
OMIM:300868 |
Rare Circulatory System Disease |
|
Cyanosis |
ORPHA:98028 |
Paragangliomas 4 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Chemodectoma, Paraganglioma ... |
OMIM:115310 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Right bundle branch block, Hypoplastic right heart, Congestive heart failure, Atrial septal defec... |
OMIM:617403 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
Leptospirosis |
|
Pulmonary hemorrhage, Jaundice, Respiratory distress, Pleural effusion, Cough |
ORPHA:509 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Pulmonary arterial hypertension, Pulmonary hypoplasia, Miscarriage, Restrictive ventilatory defec... |
ORPHA:96334 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress |
ORPHA:1555 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:2554 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
Campomelic Dysplasia |
|
Tracheobronchomalacia, Respiratory distress, Apnea, Recurrent upper respiratory tract infections,... |
OMIM:114290 |
Adnp Syndrome |
|
Recurrent upper respiratory tract infections, Respiratory distress, Aspiration |
ORPHA:404448 |
Congenital Alveolar Capillary Dysplasia |
|
Pulmonary arterial hypertension, Respiratory distress, Patent ductus arteriosus |
ORPHA:210122 |
Congenital Disorder Of Deglycosylation 1 |
|
Central sleep apnea, Recurrent respiratory infections, Respiratory distress |
OMIM:615273 |
Alternating Hemiplegia Of Childhood |
|
Apnea, Respiratory distress, Flushing, Aspiration |
ORPHA:2131 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Aortic root aneurysm, Patent ductus arteriosus, Patent foramen ovale, Pulmonary arterial hyperten... |
ORPHA:280633 |
Trisomy 8P |
|
Abnormal atrioventricular connection, Aplasia/Hypoplasia of the gallbladder, Dysplastic aortic va... |
ORPHA:264450 |
Angioosteohypertrophic Syndrome |
|
Pulmonary embolism, Congestive heart failure, Gastrointestinal hemorrhage, Telangiectasia of the ... |
ORPHA:2346 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:480898 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Peripheral pulmonary artery stenosis |
OMIM:614749 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Respiratory failure, Patent ductus arteriosus after birth at term, Unilateral lung agenesis, Emph... |
ORPHA:500150 |
Postinfectious Vasculitis |
|
Palpable purpura, Acrocyanosis, Vasculitis in the skin, Recurrent streptococcus pneumoniae infect... |
ORPHA:48435 |
Biotinidase Deficiency |
|
Apnea, Hyperventilation, Respiratory distress |
ORPHA:79241 |
Short Rib-Polydactyly Syndrome |
|
Respiratory failure |
ORPHA:1505 |
Hyperparathyroidism, Transient Neonatal |
|
Patent ductus arteriosus, Respiratory distress |
OMIM:618188 |
Arboleda-Tham Syndrome |
|
Patent ductus arteriosus, Recurrent aspiration pneumonia, Respiratory distress, Neonatal respirat... |
OMIM:616268 |
Hallermann-Streiff Syndrome |
|
Hypothyroidism, Abdominal situs inversus, Congestive heart failure |
ORPHA:2108 |
Pfeiffer Syndrome Type 2 |
|
Tracheomalacia, Respiratory distress |
ORPHA:93259 |
Ramos-Arroyo Syndrome |
|
Patent ductus arteriosus, Respiratory distress |
ORPHA:1051 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Palmoplantar cutis laxa, Respiratory distress |
OMIM:123790 |
Scalp-Ear-Nipple Syndrome |
|
Hypertension, Supraventricular tachycardia, Cardiac myxoma, Congestive heart failure |
OMIM:181270 |
White-Sutton Syndrome |
|
Patent ductus arteriosus, Rod-cone dystrophy, Abnormality of visual evoked potentials, Optic nerv... |
OMIM:616364 |
Duodenal Atresia |
|
Abnormality of the pancreas, Abnormality of the pulmonary artery, Annular pancreas |
ORPHA:1203 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Aortic regurgitation, Mitral atresia, Pulmonary artery stenosis, Abnormal cardiac septum morphology |
ORPHA:140952 |
Carney Complex |
|
Increased circulating prolactin concentration, Precocious puberty, Increased circulating cortisol... |
ORPHA:1359 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
Van Esch-O'Driscoll Syndrome |
|
Pulmonary valve atresia, Ventricular septal defect, Atrial septal defect, Pulmonary artery stenos... |
OMIM:301030 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Hypothyroidism, Decreased response to grow... |
ORPHA:444077 |
Alagille Syndrome 1 |
|
Cirrhosis, Ventricular septal defect, Prolonged neonatal jaundice, Hepatocellular carcinoma, Atri... |
OMIM:118450 |
Pfeiffer Syndrome Type 3 |
|
Tracheomalacia, Respiratory distress |
ORPHA:93260 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
Cln5 Disease |
|
Abnormality of visual evoked potentials |
ORPHA:228360 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Ventricular septal defect, Heart murmur, Bicuspid aortic valve, Jaundice, Elevated hepatic transa... |
OMIM:619475 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Elevated hepatic transaminase, Co... |
OMIM:256040 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory failure, Dyspnea, Respiratory distress, Erythema |
ORPHA:2556 |
Williams Syndrome |
|
Sudden cardiac death, Hypothyroidism, Precocious puberty, Abnormal cardiac septum morphology, Sup... |
ORPHA:904 |
Fibromuscular Dysplasia, Multifocal |
|
Pulmonary artery aneurysm, Tortuous cerebral arteries, Celiac artery dissection, Arterial fibromu... |
OMIM:619329 |
Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:3121 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Atrioventricular canal defect, Central retinal vessel vascular tortuosity, Tachypnea |
ORPHA:2751 |
Myhre Syndrome |
|
Respiratory insufficiency, Respiratory failure, Patent ductus arteriosus |
OMIM:139210 |
Autosomal Dominant Cutis Laxa |
|
Dilatation of the ventricular cavity, Bronchiectasis, Aortic aneurysm, Congestive heart failure, ... |
ORPHA:90348 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Pulmonary embolism, Jaundice, Respiratory distress |
ORPHA:79282 |
Diamond-Blackfan Anemia 1 |
|
Congestive heart failure, Ventricular septal defect, Atrial septal defect, Tricuspid stenosis |
OMIM:105650 |
Pitt-Hopkins Syndrome |
|
Sleep apnea, Abnormal pattern of respiration, Acrocyanosis, Hyperventilation |
ORPHA:2896 |
Late-Infantile/Juvenile Krabbe Disease |
|
Abnormality of visual evoked potentials |
ORPHA:206443 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Jaundice, Prolonged neonatal jaundice, Respiratory distress |
OMIM:256810 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Patent foramen ovale, Valvular pulmonary stenosis, Bicuspid aortic valve, Atrial septal defect, P... |
OMIM:300707 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Arterial rupture, Congestive heart failure, Gastrointestinal hemorrhage |
OMIM:225400 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Rhinitis, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Chroni... |
ORPHA:95455 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Hematochezia, Ventricular septal defect, Peripheral pulmonary a... |
OMIM:619575 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy |
OMIM:231550 |
Fucosidosis |
|
Vascular skin abnormality, Acrocyanosis |
ORPHA:349 |
Meester-Loeys Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Pulmonary artery aneurysm, Mitral valve p... |
OMIM:300989 |
Steinert Myotonic Dystrophy |
|
Respiratory insufficiency, Respiratory failure, Respiratory failure requiring assisted ventilatio... |
ORPHA:273 |
Rubinstein-Taybi Syndrome 1 |
|
Patent ductus arteriosus, Respiratory tract infection, Respiratory distress, Recurrent upper resp... |
OMIM:180849 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:309263 |
Spinocerebellar Ataxia Type 7 |
|
Congestive heart failure |
ORPHA:94147 |
Congenital Erythropoietic Porphyria |
|
Leukopenia, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosi... |
ORPHA:79277 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Hypohidrotic ectodermal dysplasia, Rhinitis, Periorbital wrinkles, Respiratory distress |
OMIM:305100 |
Joubert Syndrome 5 |
|
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea |
OMIM:610188 |
Vascular Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Ascending tubular aorta aneurysm, Pneumothorax, Aortic dissection, Vas... |
ORPHA:286 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pulmonary hypoplasia, Respiratory distress |
ORPHA:83617 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlargement, Pericardial effusi... |
OMIM:618280 |
Schinzel-Giedion Syndrome |
|
Recurrent pneumonia, Pulmonary hypoplasia, Respiratory distress |
ORPHA:798 |
Hutchinson-Gilford Progeria Syndrome |
|
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Prominent superficial blood vessel... |
ORPHA:740 |
8Q24.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Abnormal lung lobation, Respiratory distress, Truncus arteriosus |
ORPHA:508488 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Dyspnea, Hyperventilation, Episodic respiratory distress |
ORPHA:255210 |
Juvenile Polyposis Syndrome |
|
Pulmonary arterial hypertension, Anemia, Hepatic arteriovenous malformation, Brain abscess, Mucos... |
ORPHA:2929 |
Osteoglophonic Dysplasia |
|
Respiratory distress |
OMIM:166250 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Dilatation of the ventricular cavity, Ventricular septal defect, Atrial septal defect, Delayed pu... |
ORPHA:459070 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Respiratory failure, Dyspnea |
ORPHA:2636 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Osteogenesis Imperfecta, Type Vii |
|
Absent pulmonary artery, Hypoplastic pulmonary veins |
OMIM:610682 |
Williams-Beuren Syndrome |
|
Hypothyroidism, Coronary artery stenosis, Early onset of sexual maturation, Ventricular septal de... |
OMIM:194050 |
Metachromatic Leukodystrophy, Adult Form |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:309271 |
Cleidocranial Dysplasia 1 |
|
Neonatal respiratory distress, Respiratory distress |
OMIM:119600 |
Otopalatodigital Syndrome, Type Ii |
|
Respiratory insufficiency, Respiratory failure, Stillbirth |
OMIM:304120 |
Alström Syndrome |
|
Elevated hepatic transaminase, Myocardial fibrosis, Hepatic steatosis, Hepatosplenomegaly, Decrea... |
ORPHA:64 |
Cranioectodermal Dysplasia 3 |
|
Cirrhosis, Peripheral pulmonary artery stenosis |
OMIM:614099 |
Hermansky-Pudlak Syndrome |
|
Abnormal optic nerve morphology, Abnormality of visual evoked potentials, Ocular albinism |
ORPHA:79430 |
Plague |
|
Respiratory distress, Acute infectious pneumonia |
ORPHA:707 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia |
OMIM:619482 |
Doors Syndrome |
|
Aspiration pneumonia, Respiratory distress |
ORPHA:79500 |
Omodysplasia 1 |
|
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:258315 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Recurrent upper and lower respiratory tract infections, Respiratory distress, Patent ductus arter... |
ORPHA:480880 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Nasal flaring |
ORPHA:466943 |
Cockayne Syndrome A |
|
Optic atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Abnormality of visual evoked... |
OMIM:216400 |
Stüve-Wiedemann Syndrome |
|
Asthma, Apnea, Respiratory distress |
ORPHA:3206 |
Parkes Weber Syndrome |
|
Subarachnoid hemorrhage, Bounding pulse, High-output congestive heart failure |
ORPHA:90307 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Patent ductus arteriosus, Respiratory distress |
OMIM:617088 |
Mowat-Wilson Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Pulmonary artery sling... |
OMIM:235730 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Hypermyelinated retinal nerve fibers, Optic neuropathy, Optic disc pallor, Abnorma... |
ORPHA:909 |
Singleton-Merten Syndrome 1 |
|
Subvalvular aortic stenosis, Congestive heart failure, Aortic valve stenosis, Cardiomegaly, Aorti... |
OMIM:182250 |
Gitelman Syndrome |
|
Respiratory distress |
ORPHA:358 |
Generalized Arterial Calcification Of Infancy |
|
Pulmonary arterial hypertension, Cyanosis, Respiratory distress |
ORPHA:51608 |
Aicardi-Goutières Syndrome |
|
Prolonged neonatal jaundice, Acrocyanosis, Cutis marmorata |
ORPHA:51 |
Cockayne Syndrome B |
|
Abnormality of visual evoked potentials, Pigmentary retinopathy, Optic atrophy |
OMIM:133540 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Alzahrani-Kuwahara Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Coronary sinus enlargement, Atrial septal defect... |
OMIM:619268 |
Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Classical Ehlers-Danlos Syndrome |
|
Acrocyanosis, Bruising susceptibility, Ecchymosis, Fragile skin, Prematurely aged appearance, Poo... |
ORPHA:287 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Recurrent pneumonia, Respiratory distress |
ORPHA:99646 |
Peters Plus Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Anterior hypopituitarism, Abnormali... |
ORPHA:709 |
Lipodystrophy, Familial Partial, Type 7 |
|
Pulmonary arterial hypertension, Recurrent pancreatitis, Pulmonary arteriovenous malformation, Ty... |
OMIM:606721 |
Metachromatic Leukodystrophy |
|
Abnormality of visual evoked potentials |
ORPHA:512 |
Hypermobile Ehlers-Danlos Syndrome |
|
Apnea, Acrocyanosis |
ORPHA:285 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Abnormality of visual evoked potentials |
OMIM:203700 |
Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata |
OMIM:303600 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Patent ductus arteriosus, Asplenia, Ventricular septal defect, Bicuspid aortic valve, Hyphema, Ab... |
ORPHA:261552 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Bicuspid aortic valve, Abnormality of the pulmonary artery, Coarctation of aorta, Pulmo... |
ORPHA:261537 |
Pmm2-Cdg |
|
Aspiration pneumonia, Respiratory distress, Abnormal subcutaneous fat tissue distribution |
ORPHA:79318 |
Mowat-Wilson Syndrome |
|
Patent ductus arteriosus, Asplenia, Abnormal cardiac septum morphology, Bicuspid aortic valve, Co... |
ORPHA:2152 |