Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Respiratory failure, Recurre... |
OMIM:619773 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... |
ORPHA:90117 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Loss of ambulation, Respiratory failure, Elevat... |
OMIM:300717 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... |
ORPHA:70589 |
Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... |
ORPHA:2302 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Elevated circulating creatine kinase concentration, Inability to walk, Ab... |
ORPHA:266 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Myocardial infarction, Congestive heart failu... |
ORPHA:132 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Dyspnea, Wheezing, C... |
OMIM:613490 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency |
OMIM:253300 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... |
OMIM:615294 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Glycine Encephalopathy 2 |
|
Respiratory failure, Nonketotic hyperglycinemia |
OMIM:620398 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Elevate... |
ORPHA:79126 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Shock, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein con... |
ORPHA:36238 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach... |
OMIM:263000 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Acute Lung Injury |
|
Respiratory distress, Shock, Acute pancreatitis, Pneumonia, Elevated circulating C-reactive prote... |
ORPHA:178320 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... |
ORPHA:70587 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Anemia, Restrictive ven... |
OMIM:620296 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Apnea, Elevated circulating creatine kinase concentration, Respiratory insuf... |
OMIM:613869 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Elevated circulating creatine kinase concentration, Dyspnea, Lipoid pneumonia, Respiratory failur... |
OMIM:620326 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hyperalaninemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... |
OMIM:619386 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... |
OMIM:616726 |
Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Respiratory insufficiency due to muscle weakness, Inability to walk, Hepatosplenom... |
ORPHA:2590 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... |
OMIM:267450 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... |
OMIM:265120 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... |
OMIM:608647 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Abnormal neutrophil... |
ORPHA:723 |
Idiopathic Bronchiectasis |
|
Myocardial infarction, Crackles, Productive cough, Dyspnea, Wheezing, Respiratory tract infection... |
ORPHA:60033 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Crackles, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HRCT, Dyspnea, ... |
ORPHA:99931 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Respiratory failure, Increased total bilir... |
ORPHA:890 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... |
ORPHA:79127 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Avian Influenza |
|
Respiratory distress, Elevated hepatic transaminase, Pneumonia, Elevated circulating creatine kin... |
ORPHA:454836 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Broad-base... |
OMIM:610978 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:604801 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Respiratory insufficien... |
OMIM:614399 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Heparin-Induced Thrombocytopenia |
|
Myocardial infarction, Autoimmune thrombocytopenia, Pulmonary embolism, Abnormal onset of bleedin... |
ORPHA:3325 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Elevated circulating C-reactive protein concentration, Dyspnea, Nonproductive cough, Wh... |
ORPHA:2902 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency |
OMIM:616081 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Recurrent respiratory infections, Hepatomegaly, Abnormal neutrophil coun... |
ORPHA:3226 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Hypoxemia, Abnormal... |
ORPHA:70588 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Respirat... |
OMIM:609981 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Ataxia |
OMIM:618637 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Congestive heart failure, Respiratory failure |
OMIM:616794 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... |
ORPHA:70578 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Abnormal circulating creat... |
OMIM:618414 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Tibial Muscular Dystrophy |
|
Cardiomyopathy, Respiratory failure, Steppage gait, Difficulty walking, Mildly elevated creatine ... |
ORPHA:609 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitia... |
OMIM:612387 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... |
ORPHA:244 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Elevated circulating creatine kinase concentration, Atelectasis, Right bundle branch block, Pulmo... |
ORPHA:254361 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Loss of ambulation, Respiratory failure, Elevated circulating creatine kinase concentration, Resp... |
ORPHA:370968 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Elevated ... |
ORPHA:308552 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Gait ataxia, Hypertension, Respiratory failure, Cirrh... |
ORPHA:363400 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure |
ORPHA:60 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchie... |
OMIM:620233 |
Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Hypoventilation, Abnormal EKG, Elevated circulating creatine kinase concentration,... |
OMIM:310200 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Ataxia, Congestive heart failure, Inability to walk, Respiratory failur... |
ORPHA:70472 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... |
ORPHA:60025 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Neonatal respiratory distress, Ataxia, Bone-marrow foam cells, Splenomegaly, Jaundi... |
OMIM:607625 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Ataxia, Dilated cardiomyopathy, Tachypnea, Respiratory insuff... |
OMIM:614299 |
Antithrombin Iii Deficiency |
|
Arterial occlusion, Pulmonary embolism |
OMIM:613118 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Portal vein thrombosis, Pulmonary embolism |
ORPHA:82 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Tachypnea, Hyperhomocystinemia, Normochromic anemia, L... |
OMIM:614857 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa... |
ORPHA:563 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:609015 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory insufficiency due to muscle weakness, Inability to walk, Respiratory failure, Difficu... |
OMIM:611890 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Hyperalaninemia, Increased serum pyruvate, Apneic episodes precipitated by illness, fatigue, stre... |
OMIM:312170 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Heart block, Tachypnea, Elevated circulating creatini... |
ORPHA:542323 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Tip-toe gait, Gait disturbance, Aspiration pneumonia, Cough, Abnormal posturing |
ORPHA:216866 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure |
OMIM:616867 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Snakebite Envenomation |
|
Abnormal bleeding, Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock... |
ORPHA:449285 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Hyperalaninemia, Ataxia, Elevated circulating acylcarnitine concentration, Tachypnea, Respiratory... |
OMIM:615838 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Congenital Myopathy 10B, Mild Variant |
|
Elevated circulating creatine kinase concentration, Reduced forced vital capacity, Recurrent pneu... |
OMIM:620249 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Scedosporiosis |
|
Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Abnormal respiratory syst... |
ORPHA:449280 |
Dystonia 31 |
|
Abnormal posturing, Difficulty walking |
OMIM:619565 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Leigh Syndrome |
|
Ataxia, Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Abnormal pattern... |
OMIM:256000 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Nephronophthisis 2 |
|
Hyperkalemia, Elevated circulating creatinine concentration, Respiratory insufficiency, Hypertens... |
OMIM:602088 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Respiratory failure |
OMIM:613435 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Elevated circulating creatine kinase concentration, Respiratory failure, ... |
OMIM:603689 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Nemaline Myopathy 8 |
|
Respiratory failure |
OMIM:615348 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
C1Q Deficiency 2 |
|
Elevated circulating C-reactive protein concentration, Atelectasis, Bronchiectasis, Vasculitis in... |
OMIM:620321 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory failure, Ataxia, Apnea, Respiratory insufficiency |
OMIM:610127 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Apnea, Bradycardia, Respiratory failure |
OMIM:616277 |
Pulmonary Arteriovenous Malformation |
|
Abnormal bleeding, Brain abscess, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial... |
ORPHA:2038 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Hepatic failure, Cirrhosis, Portal hypertension |
OMIM:210050 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Leukocytosis, Thromb... |
ORPHA:90060 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Elevated circulating creatine kinase concentration, Respira... |
ORPHA:168486 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu... |
ORPHA:88618 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Thrombocytopenia, Respiratory insufficiency, Increased blood urea nit... |
OMIM:613845 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, A... |
ORPHA:2357 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure |
OMIM:225753 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure, Elevated circulating creatine kinase concentration, Difficulty walking |
OMIM:613954 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, ... |
OMIM:618278 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Broad-based gait, Ataxia, Apnea, Central hypoventilation, Dysmetria, Respiratory failure |
OMIM:618233 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Elevated circulating creatine kinase concentration, Macrovesicular hepatic steatosis, Decr... |
OMIM:608836 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Elevated circulating creatine kinase concentration, Restrictive ventilatory defect, Respiratory f... |
OMIM:606612 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Spinocerebellar Ataxia Type 1 |
|
Dysmetria, Bradykinesia, Progressive cerebellar ataxia, Respiratory failure, Dysdiadochokinesis, ... |
ORPHA:98755 |
Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... |
OMIM:618695 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:245400 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... |
OMIM:614370 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... |
ORPHA:26791 |
Intermediate Nemaline Myopathy |
|
Cardiomyopathy, Respiratory failure, Difficulty walking |
ORPHA:171433 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Ataxia, Pneumonia, Bronchitis, Elevated circulating alpha-fetoprotei... |
ORPHA:420741 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... |
ORPHA:330021 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... |
ORPHA:352447 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Ataxia, Elevated circulating creatine kinase concentration, Respiratory fai... |
OMIM:620166 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Pneumothorax, Choreoathetosis, Cardiomyopathy, Respiratory failure... |
ORPHA:445038 |
Alg1-Cdg |
|
Cardiomyopathy, Respiratory failure, Hypoalbuminemia, Decreased liver function |
ORPHA:79327 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Episodic hypertension, Apnea, Central hypoventilation |
OMIM:619483 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:79238 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Inability to walk, Respiratory insufficiency, Cardiomyopathy, Respi... |
ORPHA:258 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory insuffi... |
OMIM:615512 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Diffuse hepatic steatosis, Congestive heart failure, Respiratory insuffi... |
ORPHA:746 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections |
ORPHA:2759 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Ataxia, Inability to walk, Dystonic gait, Titubation, Respiratory failure, Difficulty walking |
ORPHA:280210 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hepatomegaly, Transient ischemic attack, Elevated circulating cr... |
ORPHA:365 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
ORPHA:75840 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Hyperglycinemia, Respiratory insufficiency |
OMIM:615330 |
Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Ataxia, Congenital laryngeal stridor |
ORPHA:2254 |
Cirrhotic Cardiomyopathy |
|
Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Hepatomegaly, Increas... |
ORPHA:57777 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Elevated circulating 2-hydroxybutyric acid concentration, Respiratory ... |
OMIM:605711 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Familial Isolated Restrictive Cardiomyopathy |
|
Orthopnea, Recurrent respiratory infections, Tricuspid regurgitation, Atrial fibrillation, Hepato... |
ORPHA:75249 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Leukocytos... |
ORPHA:340 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:230350 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:86893 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis |
OMIM:620010 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Ataxia, Increased hepatocellular lipid droplets, Respiratory ... |
OMIM:220110 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Hepatomegaly, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Respirat... |
ORPHA:79128 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Right ventricular failure, Diffuse alveolar hemorrhage, Dyspnea, Hemothorax, Pul... |
ORPHA:199241 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Asplenia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immo... |
OMIM:244400 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Congestive heart failure, Hyperammonemia, Respiratory failure, Arrhythmia, Hypertro... |
ORPHA:1194 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Steppage gait, Hepatic fibrosis,... |
ORPHA:14 |
Spastic Paraplegia Type 2 |
|
Recurrent respiratory infections, Ataxia, Spastic gait, Pulmonary embolism |
ORPHA:99015 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Dysmetria, Gait ataxia, Respiratory failure, Steppage gait |
OMIM:616505 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Recurrent upper respiratory tract infections, Gait ataxia, Bradykinesia, Titubation, Gait disturb... |
ORPHA:225147 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Respiratory failure, Hyperammonemia |
OMIM:610678 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... |
ORPHA:98913 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ataxia, As... |
ORPHA:209905 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... |
ORPHA:79301 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... |
OMIM:615486 |
Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Increased circulating ferritin concentration, Hypochromic microcytic anemia, Res... |
ORPHA:3240 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Thrombocytopenia, Premature graying of hair, Nail dystrophy, Pulmonary fibro... |
OMIM:620365 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, White hair, Thick eyebrow |
ORPHA:896 |
Fanconi Renotubular Syndrome 5 |
|
Hypertension, Hypophosphatemic rickets, Pulmonary fibrosis, Hypophosphatemia, Decreased DLCO, Emp... |
OMIM:618913 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Thrombocytopenia, Vasculitis, Leukopenia, Respiratory failure, Pet... |
ORPHA:83313 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Complete Atrioventricular Septal Defect |
|
Crackles, Tachypnea, Atrioventricular block, Lethargy, Abnormal EKG, Hepatomegaly, Intercostal re... |
ORPHA:1329 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, Prolonged prothrom... |
OMIM:618329 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Hypophosphatasia |
|
Anemia, Emphysema, Hypercalcemia, Respiratory insufficiency |
ORPHA:436 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Pulmonary edema |
OMIM:178400 |
Huntington Disease-Like 1 |
|
Dysmetria, Gait ataxia, Bradykinesia, Gait disturbance, Abnormal posturing |
ORPHA:157941 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Pulmonary embolism, Microcyti... |
ORPHA:90308 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Increased proportion of exhausted T cells |
OMIM:618307 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Cardiomyopathy, Respiratory failure, Decreased liver function, Lethargy, Hepatic st... |
OMIM:614922 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Hepatomegaly, Tricuspid regurgitation, Tachyp... |
ORPHA:555874 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Tachypnea, Abnormal pulmonary i... |
OMIM:613658 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
Alpha-2-Plasmin Inhibitor Deficiency |
|
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax |
OMIM:262850 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Dilated cardiomyopathy, Akinesia |
OMIM:607598 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Resp... |
ORPHA:679 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Shock, Elevated hepatic transaminase, Crackles, Elevated circulating C-reac... |
ORPHA:319213 |
Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure, Akinesia |
OMIM:619334 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... |
OMIM:242700 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean |
OMIM:604320 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Ataxia, Elevated circulating creatine kinase ... |
ORPHA:496641 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Cholestasis |
OMIM:105200 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... |
ORPHA:98905 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure |
OMIM:618240 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Pulmonary embolism |
OMIM:612336 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Aut... |
ORPHA:1572 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Ataxia |
ORPHA:1861 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Pulmonary hypoplasia |
ORPHA:171430 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Subdural he... |
OMIM:618291 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Respiratory failure, Increased circulating very long-chain fatty acid concentration |
OMIM:614862 |
Nocardiosis |
|
Respiratory distress, Brain abscess, Pericarditis, Liver abscess, Pneumonia, Productive cough, No... |
ORPHA:31204 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Listeriosis |
|
Respiratory distress, Brain abscess, Pericarditis, Liver abscess, Ataxia, Pneumonia, Abscess, Con... |
ORPHA:533 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Geleophysic Dysplasia 3 |
|
Hepatomegaly, Pneumonia, Dyspnea, Mitral regurgitation, Respiratory failure |
OMIM:617809 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Dyspnea, ... |
OMIM:610505 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis |
ORPHA:75234 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing |
OMIM:304700 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Budd-Chiari syndrome, ... |
OMIM:226300 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Pulmonary embolism, Respiratory tract infection, Peritonitis, Hypoalbuminem... |
ORPHA:567548 |
Sandestig-Stefanova Syndrome |
|
Laterally extended eyebrow, Respiratory failure, Sparse medial eyebrow, Highly arched eyebrow |
OMIM:618804 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Ataxia, Dyspnea, Splenomegaly, Emphysema, Restrictive ventilatory defect, Pleural e... |
ORPHA:36412 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly |
OMIM:612526 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618186 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
Farber Disease |
|
Respiratory distress, Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaund... |
ORPHA:333 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, Chylothorax |
OMIM:620278 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Leigh Syndrome |
|
Alopecia, Ataxia, Frontal hirsutism, Congestive heart failure, Choreoathetosis, Athetosis, Respir... |
ORPHA:506 |
Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Atelectasis, Splenomegaly, Recurrent pneumonia, Impaired oxidative b... |
OMIM:306400 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Eosinophilia, Abnormal hair morphology, Atelectasis, Cough, Dys... |
ORPHA:2314 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Sparse eyelashes, Pneumonia... |
ORPHA:125 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto... |
OMIM:259720 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary artery aneury... |
ORPHA:228116 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1345 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... |
OMIM:150550 |
Netherton Syndrome |
|
Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal h... |
ORPHA:634 |
Vacterl Association With Hydrocephalus |
|
Respiratory failure, Respiratory insufficiency |
OMIM:276950 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Absent eyebrow, Dyspnea, Respiratory failure, Thin eyebrow |
ORPHA:2707 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis |
OMIM:300219 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Brain abscess, Congestive heart failure, Respiratory failure... |
OMIM:616482 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Congestive heart failure, Intracranial he... |
ORPHA:363618 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up... |
ORPHA:51636 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Joubert Syndrome 21 |
|
Apnea, Ataxia, Dyspnea, Splenomegaly, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis |
OMIM:615636 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Absent eyelashes, Impaired myocardial contractility, Hypovolemic shock, Respirato... |
ORPHA:158687 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... |
ORPHA:774 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Brain ab... |
OMIM:187300 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Dyspnea,... |
ORPHA:3342 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Ataxia, Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Jaundice, R... |
ORPHA:646 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
Vici Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Elevated circulating creatine kinase ... |
OMIM:242840 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Respiratory t... |
ORPHA:79138 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... |
ORPHA:64743 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:618107 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hyperalaninemia, Hepatomegaly, Apnea, Ataxia, Splenomegaly, Concentric hypertrophic cardiomyopath... |
OMIM:252010 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure, Ataxia |
OMIM:617186 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Recurrent sinopulmonary infections, Recurrent respiratory infections, Hem... |
ORPHA:647 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Hyperalaninemia, Respiratory failure |
OMIM:619847 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax... |
ORPHA:538 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Conges... |
ORPHA:3092 |
Eisenmenger Syndrome |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar... |
ORPHA:97214 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Inability to walk, Hypertension, Hypovolemic ... |
ORPHA:2912 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:616538 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Cough, Neutrophil... |
ORPHA:3260 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis |
OMIM:235555 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Long eyelashes, Apnea |
OMIM:617301 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Brain abscess, Pericarditis, Sinusitis, Epistaxis, Hematemesis, Myoc... |
ORPHA:73263 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Sandifer Syndrome |
|
Hematemesis, Abnormal posturing, Anemia |
ORPHA:71272 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content |
OMIM:613027 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn... |
ORPHA:275766 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Alopecia, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Abnorma... |
ORPHA:79404 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure, Abnormal heart rate variability |
ORPHA:206436 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Cardiac shunt, Elevated circulating C-reactive protein concentration, Pul... |
ORPHA:70591 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Relapsing Polychondritis |
|
Pericarditis, Alopecia, Dyspnea, Myocarditis, Atelectasis, Hepatitis, Large vessel vasculitis, Co... |
ORPHA:728 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... |
OMIM:607765 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Purpura, Subcutaneous hemorrhage, Pulmonary embolism |
ORPHA:743 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Inability to walk, Abnormal posturing |
OMIM:128100 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Jaundice, Hypopnea, Respiratory failure, Bradycardia, Neutropenia, Respiratory arrest |
OMIM:617248 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... |
ORPHA:131 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... |
OMIM:615343 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Alopecia, Atri... |
ORPHA:273 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... |
OMIM:613812 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad... |
OMIM:618935 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Unilateral Polymicrogyria |
|
Abnormal posturing, Apnea, Epistaxis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Hyponatremia, Tachycardia, Elevated circulating creatine kinase co... |
ORPHA:94093 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Atelectasis, Splenomegaly, Respiratory insufficiency, Periportal fibrosis, Hypoplas... |
OMIM:269860 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Respiratory tract infection, Dyspnea, Hyperlipidemia, Hypertension, Hypoalbum... |
ORPHA:567546 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure |
OMIM:620327 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Hypertension, Respiratory failure, Internal he... |
ORPHA:805 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Dyspnea, Splenomegaly, Bronchiectasis, Abnormal pulmonary interstitia... |
OMIM:181000 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, Pulmonary hypoplasi... |
OMIM:613177 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor... |
ORPHA:447 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Sarcoidosis |
|
Abnormal nasal mucosa morphology, Heart block, Abnormal lung morphology, Increased T cell count, ... |
ORPHA:797 |
Costello Syndrome |
|
Curly hair, Pneumothorax, Respiratory insufficiency, Hypertrophic cardiomyopathy, Respiratory fai... |
OMIM:218040 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... |
ORPHA:536467 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Hypomethioninemia, Methylmalonic acidemia, Ataxia, Pulmonary embolism, Mega... |
ORPHA:79282 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Congestive heart failure, Dyspnea, Bronchiectasis, Mitral regurgitation, Em... |
OMIM:123700 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... |
ORPHA:324 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Microvesicular hepatic steatosis, Respiratory failure, Cirrhosis, Elevated hepatic ... |
OMIM:300868 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Pulmonary embolism, Perianal abscess, Jaundice, Hyperli... |
ORPHA:444490 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Brain ab... |
OMIM:600376 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal bleeding, Hepatomegaly, Hypertriglyceridemia, Epistaxis, Chronic neutropenia, Hyperlipid... |
ORPHA:79259 |
Myhre Syndrome |
|
Ataxia, Respiratory insufficiency, Fine hair, Hypertension, Respiratory failure, Sparse hair, Aor... |
OMIM:139210 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Frontal hirsutism, Pulmonary artery stenosis, Hepatosplenomegaly, Restrictive venti... |
ORPHA:96334 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure |
ORPHA:254528 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Emphysema, Supravalvular aortic stenosis |
OMIM:219100 |
Fraser Syndrome 2 |
|
Hypoplasia of the thymus, Respiratory failure, Low anterior hairline |
OMIM:617666 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Curly hair, Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Sparse eyebr... |
ORPHA:500150 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Chand Syndrome |
|
Atelectasis, Curly hair, Ataxia |
ORPHA:1401 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Breast aplasia |
ORPHA:2554 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Respiratory failure |
OMIM:618252 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myocardial infarction, P... |
ORPHA:117 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Sparse scalp hair, Hepatomegaly, Elevated hepatic transaminase, Pulm... |
ORPHA:394 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Tricuspid regurgitation, Abnormal eyelash morphology, Dyspnea, Dilated card... |
ORPHA:2556 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Sparse scalp hair, Recurrent respiratory infections, Hypoammonemia, Atelectasis, Re... |
ORPHA:534 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lo... |
ORPHA:567 |
Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Abnormal cardiac ventricular function, Congestive heart failure, Pneumothorax, Recurrent pneumoni... |
ORPHA:90349 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Dyspnea, Loss of eyelashes, Respiratory failure, Thin eyebrow, Sparse hair |
ORPHA:2636 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax, Pulmonary hypoplasia |
ORPHA:3404 |
Digeorge Syndrome |
|
Atelectasis, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Splenomegaly, Thrombocyt... |
OMIM:188400 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Sinusitis, Hypertension, Pulmonary artery hypoplasia, Pulmo... |
OMIM:245150 |
Otopalatodigital Syndrome, Type Ii |
|
Respiratory failure, Widow's peak, Respiratory insufficiency |
OMIM:304120 |
Multiple Osteochondromas |
|
Pneumothorax, Hemothorax |
ORPHA:321 |