Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Maturity-onset diabetes of the young |
OMIM:616329 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Immunodeficiency With Defective T-Cell Response To Interleukin 1 |
|
Recurrent pneumonia, Recurrent otitis media |
OMIM:243110 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
Interstitial Lung Disease 1 |
|
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... |
OMIM:619611 |
Mahvash Disease |
|
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... |
OMIM:606762 |
Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... |
OMIM:613953 |
Immunodeficiency 18 |
|
Recurrent gastroenteritis, Lymphopenia, Recurrent otitis media, Decreased proportion of CD3-posit... |
OMIM:615615 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Immunodeficiency 95 |
|
Respiratory distress, Lymphopenia, Respiratory failure, Recurrent viral upper respiratory tract i... |
OMIM:619773 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Recurrent upper respirat... |
OMIM:618806 |
Combined Immunodeficiency, X-Linked |
|
Recurrent bronchitis, Decreased proportion of CD8-positive T cells, Sinusitis, Otitis media, Decr... |
OMIM:312863 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Respiratory tract infection, Atelectasis, Pulmonary edema, Cardiac arrest, Nasal fla... |
ORPHA:70587 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Weight loss, Recurrent pneumonia, Dyspnea, Cough |
ORPHA:64741 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Desquamative interstitial pneumonitis, Bronchiectasis, Decreased DLCO,... |
OMIM:610913 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Young Syndrome |
|
Recurrent bronchitis, Recurrent sinopulmonary infections, Bronchiectasis, Congenital pulmonary ai... |
OMIM:279000 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:613021 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:211400 |
Ciliary Dyskinesia, Primary, 21 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurren... |
OMIM:615294 |
Immunodeficiency 104 |
|
Recurrent opportunistic infections, T lymphocytopenia, Eczema, Chronic mucocutaneous candidiasis,... |
OMIM:608971 |
Ciliary Dyskinesia, Primary, 44 |
|
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Otitis media, Neonatal respir... |
OMIM:618781 |
Lymphoid Interstitial Pneumonia |
|
Lymphocytic interstitial pneumonia |
OMIM:247610 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Respiratory distress, Edema, Dyspnea, Neonatal respiratory distress, Atelectasis... |
OMIM:267450 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Immunodeficiency 14B, Autosomal Recessive |
|
Candida esophagitis, B lymphocytopenia, Neutrophilia, Recurrent sinusitis, Recurrent pneumonia, I... |
OMIM:619281 |
Cd8 Deficiency, Familial |
|
Bronchiectasis, Recurrent bacterial infections, Absence of CD8-positive T cells, Recurrent viral ... |
OMIM:608957 |
Pneumocystosis |
|
Respiratory insufficiency, Exertional dyspnea, Chronic oral candidiasis, Pneumocystis jirovecii p... |
ORPHA:723 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio |
OMIM:125853 |
Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Neutropenia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytop... |
OMIM:614470 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Lymphopenia, Neutro... |
OMIM:300988 |
Adult Acute Respiratory Distress Syndrome |
|
Hypotension, Pulmonary edema, Hypoxemia, Shock, Dyspnea, Abnormal blood gas level, Respiratory fa... |
ORPHA:70578 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Chronic oral candidiasis, Failure to thrive, Recurrent infecti... |
OMIM:615592 |
Mounier-Kühn Syndrome |
|
Bronchitis, Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia |
ORPHA:3347 |
Immunodeficiency 15A |
|
Acne inversa, Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Recurrent otitis... |
OMIM:618204 |
Immunodeficiency 48 |
|
Recurrent candida infections, Absence of CD8-positive T cells, Pneumonia, Eczematoid dermatitis, ... |
OMIM:269840 |
Chronic Beryllium Disease |
|
Respiratory insufficiency, Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system... |
ORPHA:133 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... |
ORPHA:217563 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Recurrent bacterial infections, Thrombocytosis, Eosinophilia, M... |
OMIM:202700 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Recurrent Haemophilus influenzae infections, Bronchiectasis, Product... |
ORPHA:60033 |
Immunodeficiency 24 |
|
Respiratory tract infection, Severe varicella zoster infection, Decreased CD4:CD8 ratio, Reduced ... |
OMIM:615897 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent ear infections, Acute myeloid leukemia, Rhinitis, Recurrent aphthous stomatitis, Neutro... |
ORPHA:486 |
Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... |
OMIM:615872 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... |
OMIM:610921 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight, Maturity-onset diabetes of the young |
OMIM:613375 |
Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Recurrent bacterial infections, Helico... |
ORPHA:2688 |
Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chronic rhinitis, Recurrent pneumon... |
OMIM:616726 |
Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis, Peritonitis, Pneumonia |
OMIM:615561 |
Immunodeficiency 91 And Hyperinflammation |
|
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Extrapulmonary tuberculosis, Ne... |
OMIM:619644 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Neutropenia, Recurrent otitis m... |
OMIM:616022 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Interstitial pneumonitis, Ulcerative colitis, Recurrent sinopulmonary infections, ... |
OMIM:614878 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Immunodeficiency 13 |
|
Recurrent shingles, Decreased CD4:CD8 ratio, T lymphocytopenia, Bronchiectasis, B lymphocytopenia... |
OMIM:615518 |
Immunodeficiency 52 |
|
Persistent EBV viremia, Bronchiectasis, Increased proportion of gamma-delta T cells, Coombs-posit... |
OMIM:617514 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity, Hyperinsulinemia |
ORPHA:71529 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemia, Plasmacytosis, Pneumonia |
OMIM:247800 |
Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp... |
ORPHA:922 |
Familial Isolated Restrictive Cardiomyopathy |
|
Pulmonary edema, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy, Abnormal left... |
ORPHA:75249 |
Bronchopulmonary Dysplasia |
|
Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Small for gestational age, Abnormal ... |
ORPHA:70589 |
Emphysema, Hereditary Pulmonary |
|
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema |
OMIM:130700 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Nodular pattern on pulmonary HRCT, Dyspnea, Cough |
ORPHA:60026 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis, Sepsis |
ORPHA:231154 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Conjunctivitis, Recurrent opportunistic infections, Purulent rhinitis, T lymphocytopenia, B lymph... |
OMIM:601457 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Impaired neutrophil chemotaxis, Recurrent ... |
OMIM:618986 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Weight loss, Respiratory distress, Upper airway obstruction, Dyspnea |
ORPHA:141152 |
Immunodeficiency 8 With Lymphoproliferation |
|
Chronic oral candidiasis, Post-vaccination varicella zoster virus infection, Recurrent otitis med... |
OMIM:615401 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FE... |
ORPHA:1303 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Coccidioidomycosis, Lymphadenitis, Salmonella osteomyelitis, ... |
ORPHA:319552 |
Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Syncope, Respiratory distress, Recurrent pneumonia, Failure to thrive,... |
ORPHA:60032 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71526 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Desquamative interstitial pneumonitis, Respiratory distress, Failure to thrive, Cough, Recurrent ... |
OMIM:263000 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Neutropenia, Recurrent streptococcus pneumoniae infections, Recur... |
ORPHA:70592 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent urinary tract infections, Recurrent otitis media, Lymphocytic interstitial pneumonia, P... |
OMIM:618495 |
Immunodeficiency 32B |
|
Anemia, Recurrent respiratory infections, Bronchiectasis, BCGitis, Monocytopenia, Neutrophilia, F... |
OMIM:226990 |
Ciliary Dyskinesia, Primary, 42 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... |
OMIM:618695 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Asthma, Eczema, Refractory anemia, Monocytosis |
OMIM:616871 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Impaired nasal mucociliary clearance, Recurrent sinusitis, Bronchiectasis |
OMIM:618449 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... |
ORPHA:324575 |
Ciliary Dyskinesia, Primary, 23 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615451 |
Ciliary Dyskinesia, Primary, 9 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni... |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 46 |
|
Bronchiectasis, Reduced forced vital capacity, Recurrent otitis media, Recurrent sinusitis, Recur... |
OMIM:619436 |
Immunodeficiency 40 |
|
Respiratory tract infection, Severe varicella zoster infection, Chronic oral candidiasis, Interst... |
OMIM:616433 |
Gcgr-Related Hyperglucagonemia |
|
Increased glucagon level, Neoplasm of the pancreas, Diabetes mellitus, Abnormal biliary tract mor... |
ORPHA:438274 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactiv... |
ORPHA:276608 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancrea... |
ORPHA:79084 |
Ciliary Dyskinesia, Primary, 3 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Neonat... |
OMIM:608644 |
Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Rhinorrhea, Cough, Chronic ... |
OMIM:618254 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Onychomycosis, Recurrent bacterial skin infections, Atopic dermatitis, T lymphocytopenia, B lymph... |
ORPHA:217390 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Disseminated molluscum contagiosum, Bronchiectasis, Asthma, Severe cytomegalovirus infection, Ulc... |
OMIM:617638 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Large fo... |
ORPHA:276580 |
Idiopathic Achalasia |
|
Bronchitis, Weight loss, Recurrent aspiration pneumonia, Cough, Wheezing |
ORPHA:930 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Chronic sinusitis, Otitis medi... |
OMIM:300455 |
Lymphatic Malformation 7 |
|
Anemia, Pulmonary edema, Lymphedema, Pericardial effusion, Respiratory distress, Nonimmune hydrop... |
OMIM:617300 |
Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress |
OMIM:254120 |
Systemic Capillary Leak Syndrome |
|
Pedal edema, Pulmonary edema, Pleural effusion, Pericarditis, Cardiorespiratory arrest, Rhinorrhe... |
ORPHA:188 |
Slc35A1-Cdg |
|
Pulmonary hemorrhage, Neutropenia, Subcutaneous hemorrhage, Hypoxemia, Respiratory distress, Abno... |
ORPHA:238459 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Benign Cephalic Histiocytosis |
|
Skin rash, Histiocytosis, Inflammatory abnormality of the skin |
ORPHA:157997 |
Pleural Mesothelioma |
|
Abnormal pleura morphology, Weight loss, Abnormal respiratory system physiology, Respiratory dist... |
ORPHA:50251 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Bronchiectasis, Weight loss, Pericardial effusion, Respiratory distress, Chronic pu... |
ORPHA:411703 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Recurrent infections, Respiratory distress |
ORPHA:171703 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Large for gestational age, ... |
ORPHA:276575 |
Immunodeficiency 20 |
|
Reduced natural killer cell count, Severe varicella zoster infection, BCGitis, Recurrent oral her... |
OMIM:615707 |
Immunodeficiency 75 With Lymphoproliferation |
|
Persistent EBV viremia, Bronchiectasis, Hepatosplenomegaly, Decreased proportion of class-switche... |
OMIM:619126 |
Staphylococcal Necrotizing Pneumonia |
|
Hypotension, Leukopenia, Pneumothorax, Pleural empyema, Severe infection, Neutrophilia, Hypoxemia... |
ORPHA:36238 |
Ciliary Dyskinesia, Primary, 27 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615504 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Cough, Neonatal respiratory di... |
OMIM:300991 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Persistent EBV viremia, Severe varicella zoster infection, Decreased CD4:CD8 ratio, Bronchiectasi... |
OMIM:300853 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Recurrent viral infections, Recurrent gastroenteritis, Stomatitis, Bronchiectasis |
OMIM:618648 |
Heparin-Induced Thrombocytopenia |
|
Pulmonary embolism, Cerebral ischemia, Abnormal onset of bleeding, Autoimmune thrombocytopenia, M... |
ORPHA:3325 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Recurrent respiratory infections, Erythema nodosum, Recurrent ... |
OMIM:615214 |
Immunodeficiency 110 With Lymphoproliferation |
|
Lymphopenia, Recurrent bacterial infections, Recurrent viral infections, Neutropenia, Recurrent f... |
OMIM:614868 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent ear infections, T lymphocytopenia, Bronchiectasis, Increased proportion of transitional... |
OMIM:615513 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent candida infections, Chronic oral candidiasis, Recurrent herpes, Hepatitis, Decreased pr... |
ORPHA:169160 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasis |
OMIM:620032 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Intraalveolar phospholipid accumulation, Brain abscess, Recurrent respiratory infections, Hypoxem... |
OMIM:610910 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Pedal edema, Abnormal pulmonary interstitia... |
ORPHA:330001 |
Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Bronchiectasis, B lymphocytopenia, Neutropenia in presence of anti-neutropil anti... |
OMIM:607594 |
Immunodeficiency 21 |
|
Anemia, Myeloid leukemia, Osteomyelitis, Monocytopenia, B lymphocytopenia, Reduced natural killer... |
OMIM:614172 |
Neonatal Alloimmune Neutropenia |
|
Severe infection, Neutropenia in presence of anti-neutropil antibodies, Meningitis, Pneumonia, Se... |
ORPHA:464370 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Bardet-Biedl Syndrome 16 |
|
Recurrent respiratory infections, Respiratory distress, Recurrent otitis media, Bronchiolitis, Ob... |
OMIM:615993 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Herpes simplex encephalitis, Bronchiectasis, Increased proportion of memo... |
OMIM:618982 |
Immunodeficiency 11 |
|
Pneumocystis jirovecii pneumonia, Recurrent respiratory infections, Monocytopenia, Decreased prop... |
OMIM:615206 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... |
ORPHA:264675 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Desquamative interstitial pneumonitis, Interstitial pneumonitis, Eczema, Recurrent upper respirat... |
OMIM:615952 |
Ciliary Dyskinesia, Primary, 20 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:615067 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent bronchitis, Recurrent otitis media, Absent circulating B ce... |
OMIM:613501 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Eczema, Recurrent bacterial infections, Neutropenia |
OMIM:300299 |
Acute Lung Injury |
|
Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distress, Diffuse alveolar hem... |
ORPHA:178320 |
Cryptogenic Organizing Pneumonia |
|
Pneumothorax, Weight loss, Neutrophilia, Hypoxemia, Respiratory distress, Crackles, Restrictive v... |
ORPHA:1302 |
Myelolymphatic Insufficiency |
|
Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Recurrent vira... |
OMIM:310350 |
Body Mass Index Quantitative Trait Locus 19 |
|
Increased serum leptin, Hyperinsulinemia, Obesity, Insulin resistance |
OMIM:617885 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Bronchiectasis, Recurrent oral herpes, Neutropenia in presence of anti-neutropil antibodies, Recu... |
OMIM:619220 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Ciliary Dyskinesia, Primary, 28 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615505 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Neutropenia |
ORPHA:90023 |
Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Small for gestational age, Diabetic ketoaci... |
ORPHA:99886 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... |
ORPHA:79644 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Hepatitis, Skin rash, Thyroiditis, Interstitial pneumonitis, Pustul... |
ORPHA:139402 |
Immunodeficiency 62 |
|
Bronchiectasis, B lymphocytopenia, Increased proportion of transitional B cells, Severe recurrent... |
OMIM:618459 |
Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Pedal edema, Hemothorax, Pulmonary edema, Exertional dyspnea,... |
ORPHA:199241 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiolitis, Chronic otitis... |
OMIM:604571 |
Gaucher Disease Type 2 |
|
Cardiac arrest, Respiratory distress, Abnormal pattern of respiration, Cough, Recurrent respirato... |
ORPHA:77260 |
Isolated Agammaglobulinemia |
|
Anemia, Recurrent respiratory infections, Skin rash, Inflammatory abnormality of the eye, Arthrit... |
ORPHA:229717 |
Trimethylaminuria |
|
Anemia, Splenomegaly, Hypertension, Recurrent pneumonia, Neutropenia, Tachycardia |
OMIM:602079 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Asthma, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumoni... |
OMIM:614379 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Right bundle branch block, Pulmonary edema, Reduced left ventricular ejecti... |
OMIM:115197 |
Scedosporiosis |
|
Septic arthritis, Unusual CNS infection, Pericarditis, Bronchial breath sound, Pneumonia, Sepsis,... |
ORPHA:449280 |
Ciliary Dyskinesia, Primary, 7 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Recurrent... |
OMIM:611884 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, Bronchiectasis, B lymphocytopenia, Recur... |
OMIM:150550 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Chronic oral candidiasis, T lymphocytopenia, Skin rash, Recurrent bacte... |
OMIM:300400 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Bronchiectasis, Pyoderma, Recurrent bronchopulmonary infections, Lymphopenia, ... |
OMIM:242700 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Hepatosplenomegaly, Eosinophilia, Colitis, Recurrent viral infections, Pneumonia, Lymphadenitis, ... |
ORPHA:911 |
Ciliary Dyskinesia, Primary, 24 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu... |
OMIM:615481 |
Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, H... |
ORPHA:552 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Weight loss, Honeycomb lung, Hyp... |
ORPHA:79127 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Respiratory insufficiency, Hypoplasia of the thymus, Perianal abscess, Hepatosplenomegaly, Pannic... |
OMIM:612541 |
Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... |
ORPHA:3348 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Severe viral infection, Recurrent otitis media, Fa... |
OMIM:615617 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Small for gestational age, Diabetic ketoacidosis, Hypoglyce... |
OMIM:262190 |
Idiopathic Pulmonary Fibrosis |
|
Abnormal pulmonary interstitial morphology, Exertional dyspnea, Bronchiectasis, Honeycomb lung, R... |
ORPHA:2032 |
Whim Syndrome 2 |
|
Chronic neutropenia, Recurrent gingivitis, Severe infection |
OMIM:619407 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Weight loss, Asthma, ... |
ORPHA:1164 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia, Recurrent infections |
OMIM:617014 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... |
ORPHA:140896 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Pulmonary edema, Reduced left ventricular ejection fraction, Skin rash, Hypoxemia, H... |
ORPHA:542323 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Recur... |
OMIM:613502 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent opportunistic infections, Pulmonary insufficiency, T lymphocytopenia, B lymphocytopenia... |
ORPHA:277 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Perianal abscess, Bronchiectasis, T lymphocytopenia, B lymphoc... |
OMIM:618108 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Colitis, Recurrent bronch... |
OMIM:619164 |
Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe... |
OMIM:178500 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Hydrops fetalis, Reduced left ventricular ejection fraction, Abnorm... |
ORPHA:45452 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent opportunistic infections, Recurrent bacterial skin infections, Recurrent cutaneous fung... |
ORPHA:276 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Neutrophilia, Recurrent otitis media, Pneumonia, Reduction of neutrophil motility,... |
OMIM:266265 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance |
ORPHA:369873 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Ciliary Dyskinesia, Primary, 11 |
|
Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Immotile cilia, Recurrent sinus... |
OMIM:612649 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... |
ORPHA:280356 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction, Palpebral edema, Tongue edema, Pharyngeal edema, ... |
ORPHA:100057 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Recurrent herpes, Asthma, Recurrent sinopulmonary infections, Eczema, Fa... |
OMIM:607271 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Diffuse pancr... |
ORPHA:276556 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Disseminated molluscum contagiosum, Bronchiectasis, Eosinophil... |
OMIM:243700 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurren... |
OMIM:608184 |
Immunodeficiency 77 |
|
Bronchiectasis, Cutaneous abscess, Chronic pulmonary obstruction, Nontuberculous mycobacterial pu... |
OMIM:619223 |
Immunodeficiency 102 |
|
Leukopenia, Anemia, Severe varicella zoster infection, Decreased proportion of CD4-positive helpe... |
OMIM:301082 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Respiratory tract infection, Hemolytic anemia, Hepatitis, Lymphopenia, Recurrent otitis media, Au... |
ORPHA:444463 |
Tularemia |
|
Conjunctivitis, Anemia, Brain abscess, Erythema nodosum, Skin rash, Inflammatory abnormality of t... |
ORPHA:3392 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Hydrops fetalis, Chylopericardium, Respiratory distress, Chronic... |
ORPHA:2414 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Pu... |
ORPHA:57777 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Crusting erythematous dermatitis, Eczema, Myositis, Gastritis, Meningitis, Colitis, Recurrent ski... |
ORPHA:37042 |
Insulinoma |
|
Hyperhidrosis, Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cel... |
ORPHA:97279 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Neutropenia, Recurrent upper respiratory tract infections, Bronch... |
OMIM:193670 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Respirat... |
OMIM:613642 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism |
OMIM:307500 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin... |
OMIM:619802 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
Ciliary Dyskinesia, Primary, 43 |
|
Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinitis, Recurrent upper respirator... |
OMIM:618699 |
Immunodeficiency 46 |
|
Conjunctivitis, Anemia, Chronic oral candidiasis, Recurrent sinopulmonary infections, Meningitis,... |
OMIM:616740 |
Ciliary Dyskinesia, Primary, 32 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu... |
OMIM:616481 |
Aspergillosis |
|
Bronchiectasis, Unusual CNS infection, Pleural effusion, Meningitis, Eosinophilia, Pneumonia, Hyp... |
ORPHA:1163 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Bronchiectasis, Recurrent sinusitis, Recurrent sinopulmonary infections, Chro... |
OMIM:616576 |
Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
Ciliary Dyskinesia, Primary, 17 |
|
Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Chronic rhinitis, Cough, Recurrent res... |
OMIM:614679 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pulmonary edema, T-wave inversion, Pericardial effusion, ST segment depression, Cong... |
OMIM:261740 |
Avian Influenza |
|
Pneumothorax, Productive cough, Pleural effusion, Meningitis, Thrombocytopenia, Pneumonia, Nonpro... |
ORPHA:454836 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Polyhydramnios, Decreased body weight, Dilated cardiomyopathy, Respiratory distress, Respiratory ... |
OMIM:300580 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Abnormal pulmonary interstitial morphology, Anemia, Recurrent respiratory... |
OMIM:607616 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Pulmonary v... |
OMIM:234810 |
Ciliary Dyskinesia, Primary, 26 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 25 |
|
Chronic bronchitis, Bronchiectasis, Productive cough, Immotile cilia, Chronic pulmonary obstructi... |
OMIM:615482 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Arthritis, Hemosiderin-laden ma... |
OMIM:616414 |
Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Pulmonary insufficiency, Hyp... |
ORPHA:70588 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Congenital laryngeal stridor, Bronchiectasis |
ORPHA:2375 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Diabetes mellitus, Delayed puberty, Hyperinsulinemic hypoglycemia |
OMIM:616033 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Neutropenia, Monocytopenia |
ORPHA:86788 |
Ciliary Dyskinesia, Primary, 2 |
|
Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Otitis media, Recurrent respirat... |
OMIM:606763 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Specific Granule Deficiency 1 |
|
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Recurrent bacterial i... |
OMIM:245480 |
Thymic Aplasia |
|
Opportunistic infection, T lymphocytopenia, Recurrent Staphylococcus aureus infections, Coombs-po... |
ORPHA:83471 |
Mercury Poisoning |
|
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress |
ORPHA:330021 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent otitis media, Absent circulating B cells, Recurrent pneumon... |
OMIM:613500 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Large for gestational age, Neonatal hypoglycem... |
ORPHA:293964 |
Congenital Enterovirus Infection |
|
Hypotension, Polyhydramnios, Abnormal macrophage morphology, Pericardial effusion, Pleural effusi... |
ORPHA:292 |
Acute Myelomonocytic Leukemia |
|
Anemia, Weight loss, Abnormal bleeding, Dyspnea, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
Ovarian Hyperstimulation Syndrome |
|
Hypovolemia, Pulmonary edema, Pleural effusion, Peripheral edema, Capillary leak, Ascites, Genera... |
ORPHA:64739 |
Immunodeficiency 92 |
|
Osteomyelitis, B lymphocytopenia, Recurrent oral herpes, Lymphocytosis, Sclerosing cholangitis, C... |
OMIM:619652 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Cough, Dyspnea, Panacinar emph... |
OMIM:613490 |
Absence Of The Pulmonary Artery |
|
Pulmonary arterial hypertension, Pedal edema, Systolic heart murmur, Hypocapnia, Pulmonary edema,... |
ORPHA:980 |
Ciliary Dyskinesia, Primary, 35 |
|
Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinit... |
OMIM:617092 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Telangiectases of the cheeks, Recurrent lower respiratory tract infections, Recurrent upper respi... |
OMIM:615139 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:619446 |
Ciliary Dyskinesia, Primary, 34 |
|
Decreased nasal nitric oxide, Bronchiectasis, Reduced respiratory ciliary beating frequency, Recu... |
OMIM:617091 |
Ciliary Dyskinesia, Primary, 5 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:608647 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Delayed puberty, Glucose... |
OMIM:615363 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... |
ORPHA:66529 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... |
ORPHA:276152 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis |
OMIM:613494 |
Ciliary Dyskinesia, Primary, 15 |
|
Chronic bronchitis, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurrent pneumoni... |
OMIM:613808 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Recurrent infections, Eczema, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Abnormal bronchus physiology, Histiocytosis, Increased inflammatory r... |
OMIM:209950 |
Bacterial Toxic-Shock Syndrome |
|
Hypotension, Septic arthritis, Fasciitis, Shock, Glomerulonephritis, Myositis, Meningitis, Capill... |
ORPHA:36234 |
X-Linked Centronuclear Myopathy |
|
Polyhydramnios, Recurrent respiratory infections, Respiratory distress, Respiratory failure requi... |
ORPHA:596 |
Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, A... |
OMIM:613807 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hyperinsulinemia, Obesity, Hypogonadism |
ORPHA:791 |
Autosomal Agammaglobulinemia |
|
Conjunctivitis, Recurrent skin infections, Osteomyelitis, Neutropenia, Bronchiectasis, Hepatitis,... |
ORPHA:33110 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
T lymphocytopenia, Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Decreased ... |
ORPHA:572 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent opportunistic infections, Recurrent urinary tract infections, Neutropenia in presence o... |
OMIM:613179 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Brain abscess, Hemothorax,... |
ORPHA:2038 |
Ciliary Dyskinesia, Primary, 12 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, C... |
OMIM:612650 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Folliculitis, Hepatitis, Erythema nodosum, Pancytopenia, Inflammation of the large intestine, Col... |
OMIM:300635 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Weight loss, Lymphedema, Acute leukemia, Intracranial hemorrhage, Bruising suscepti... |
ORPHA:3226 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
T lymphocytopenia, Recurrent otitis media, Lymphopenia, Impaired lymphocyte transformation with p... |
OMIM:600802 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Recurrent sinusitis, Colitis, Thrombocytopenia, Pneumonia, Splenomegaly, Sepsis, ... |
OMIM:614700 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent sinusitis, Absent circulating B cells, Meningitis, Recurrent respiratory infections, Tr... |
OMIM:619707 |
Ciliary Dyskinesia, Primary, 13 |
|
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... |
OMIM:613193 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Cirrhosis, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, He... |
OMIM:604367 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Failure to thrive, Recurrent bacterial infec... |
OMIM:603554 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
Rigid Spine Syndrome |
|
Respiratory insufficiency, Pneumonia, Abnormality on pulmonary function testing, Cardiac conducti... |
ORPHA:97244 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Chronic bronchitis, B lymphocytopenia, Pneumocystis jirovecii pneumonia, Recurrent upper respirat... |
OMIM:614069 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Neonatal sepsis, T lymphocytopenia, Lymphocy... |
ORPHA:169154 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Glycosuria, Large for gestational age,... |
ORPHA:263455 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo... |
OMIM:265450 |
Immunodeficiency 56 |
|
Bronchiectasis, Pneumocystis jirovecii pneumonia, Recurrent sinusitis, Recurrent otitis media, Ch... |
OMIM:615207 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Failure to thrive, Aspiration pneumonia |
OMIM:609528 |
Nipah Virus Disease |
|
Hypotension, Recurrent pharyngitis, Respiratory distress, Cough, Infectious encephalitis |
ORPHA:99825 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Intraalveolar phospholipid accumulation, Reduced forced vital capacity, Failure to thrive, Restri... |
OMIM:300770 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Abnormal pleura morphology, Lymphopenia, Eosinophilia |
ORPHA:2582 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Conjunctivitis, Septic arthritis, Enteroviral dermatomyositis syndrome, Prostatitis, Recurrent ur... |
OMIM:307200 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... |
OMIM:612387 |
Ciliary Dyskinesia, Primary, 19 |
|
Rhinitis, Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary ... |
OMIM:614935 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Sepsis, R... |
ORPHA:183675 |
Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... |
ORPHA:331235 |
Ciliary Dyskinesia, Primary, 30 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Resp... |
OMIM:616037 |
Asbestos Intoxication |
|
Oxygen desaturation on exertion, Pleural thickening, Hepatojugular reflux, Decreased DLCO, Nonpro... |
ORPHA:2302 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Obesity, Hypergonadotropic hypogonadism |
ORPHA:3085 |
Laryngotracheal Angioma |
|
Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing |
ORPHA:137935 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Common Variable Immunodeficiency |
|
Splenomegaly, Recurrent respiratory infections, Bronchiectasis, Hemolytic anemia, Recurrent bronc... |
ORPHA:1572 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Methicillin-resistant Staphylococcus aureus infection, Osteomyelitis, Chronic oral candidiasis, B... |
OMIM:618282 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted... |
ORPHA:90117 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Congestive heart failure, Respiratory distress, Eczema, Thromboc... |
OMIM:619751 |
Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Sepsis |
OMIM:267500 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Elevated bronchoalveolar lavage fluid neutrophil proportion, Asthma, Hypoxemia, Respiratory distr... |
OMIM:610978 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Anemia, Respiratory distress, Failure to thrive, Dehydration, Thrombocytopenia, Neu... |
ORPHA:79312 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Septic arthritis, Megaloblastic anemia, Eczema, Pancytopenia, Lymphopenia, Recurrent pneumonia, R... |
OMIM:617780 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Small for gestational age, Hepatosplenomegaly, Failure to thrive, Hypoglycemia,... |
ORPHA:79237 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... |
ORPHA:254875 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Bronchiectasis, Asthma, Cutaneous abscess, Chronic mucocutaneo... |
OMIM:619752 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary motility, Chronic otitis me... |
OMIM:614017 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress, Failure ... |
ORPHA:91359 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Exertional dyspnea, Dyspnea, ... |
OMIM:614370 |
Fusariosis |
|
Brain abscess, Bronchiectasis, Productive cough, Fasciitis, Unusual CNS infection, Pleural effusi... |
ORPHA:228119 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Onychomycosis, Lymphadenitis, Crohn's disease, Perianal abscess, Hemolytic anemia, Granuloma, Ecz... |
OMIM:618935 |
Panbronchiolitis, Diffuse |
|
Bronchiectasis, Rhonchi, Hypoxemia, Crackles, Cough, Wheezing |
OMIM:604809 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... |
OMIM:254210 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Failure to thrive, Respiratory ... |
ORPHA:91130 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent EBV viremia, Decreased proportion of naive CD8 T cells, Bronchiectasis, Chronic lympha... |
OMIM:616005 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Type II diabetes mellitus, Glucose intolerance, Impaired glucose tolerance |
OMIM:610947 |
Lymphoid Interstitial Pneumonia |
|
Bronchiectasis, Keratoconjunctivitis sicca, Eczema, Crackles, Multiple pulmonary cysts, Decreased... |
ORPHA:79128 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... |
ORPHA:1227 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Leukocytosis, Recurrent respi... |
OMIM:618042 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Atopic dermatitis, Weight loss, Asthma, Hypoxemia, Pleural effusion, Crackles,... |
ORPHA:2902 |
Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Decreased body weight, Acute tubulointerstitial nephritis, Pleural effusion, Shock, ... |
ORPHA:340 |
Cocaine Intoxication |
|
Hypotension, Pneumothorax, Ischemic stroke, Ventricular arrhythmia, Supraventricular arrhythmia, ... |
ORPHA:90068 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
BCGitis, B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Fa... |
OMIM:602450 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Respiratory distress, Thrombocytopenia, Neutropenia, Pancreatitis, Sepsis |
ORPHA:289916 |
Leukocyte Adhesion Deficiency |
|
Perianal abscess, Bronchiectasis, Recurrent staphylococcal infections, Glomerulonephritis, Mening... |
ORPHA:2968 |
Malaria |
|
Anemia, Thrombocytopenia, Respiratory distress |
ORPHA:673 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
Felty Syndrome |
|
Pericarditis, Thrombocytopenia, Splenomegaly, Abnormal lymphocyte morphology, Sepsis, Weight loss... |
ORPHA:47612 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Recurrent aspiration pneumonia, Hepatosplenomegaly, Recurrent viral infections... |
ORPHA:79124 |
Mogs-Cdg |
|
Polyhydramnios, Hypoventilation, Pulmonary edema, Respiratory distress, Hepatosplenomegaly, Apnea... |
ORPHA:79330 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Conjunctivitis, Neutropenia, Bronchiectasis, B lymphocytopenia, Recurrent sinusitis, Recurrent ot... |
OMIM:601495 |
Zollinger-Ellison Syndrome |
|
Extrahepatic cholestasis, Pituitary corticotropic cell adenoma, Weight loss, Increased glucagon l... |
ORPHA:913 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Small for gestational age, Aspiration pneumonia, Neonatal respiratory distress |
OMIM:619057 |
Lymphoproliferative Syndrome 2 |
|
Persistent EBV viremia, Severe varicella zoster infection, EBV meningitis, Uveitis, Hepatosplenom... |
OMIM:615122 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
Melioidosis |
|
Septic arthritis, Respiratory tract infection, Brain abscess, Sepsis, Prostatitis, Hepatitis, Spl... |
ORPHA:31202 |
Ciliary Dyskinesia, Primary, 22 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615444 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Bronchiectasis, Eczema, Recurrent otitis media, Eosinophilia, Keratitis, Recurrent respiratory in... |
OMIM:618523 |
Immunodeficiency 85 And Autoimmunity |
|
Persistent EBV viremia, Oligoarthritis, Reduced natural killer cell count, Decreased proportion o... |
OMIM:619510 |
Laryngomalacia |
|
Congenital laryngeal stridor, Respiratory distress |
OMIM:150280 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pedal edema, Systolic heart murmur, Supraventricular arrhythmia, Breathing dysregulation, Abnorma... |
ORPHA:99103 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Desquamative interstiti... |
OMIM:265120 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Cyclic Neutropenia |
|
Respiratory tract infection, Opportunistic infection, Severe infection, Perianal abscess, Enteroc... |
ORPHA:2686 |
Whim Syndrome |
|
Lymphadenitis, Respiratory tract infection, Sepsis, Neutropenia, Bronchiectasis, Abnormality of n... |
ORPHA:51636 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Biliary cirrhosis, Decreased body weight, Fasting hypoglycemia, Weight loss, In... |
ORPHA:2298 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Weight loss, Hypoxemia, Restrictive ventilatory defect, Airway obstruction, Dyspnea, Coug... |
ORPHA:90060 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Abnormal bleeding, Bruising susceptibility, HbH hemoglobin, Dyspnea, Thrombocytopeni... |
ORPHA:231401 |
Omenn Syndrome |
|
Anemia, Thyroiditis, Abnormal lymphocyte morphology, Failure to thrive, Edema, Eosinophilia, Eryt... |
ORPHA:39041 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... |
OMIM:605809 |
Pgm3-Cdg |
|
T lymphocytopenia, Bronchiectasis, Eczema, Eosinophilia, Recurrent skin infections, Decreased pro... |
ORPHA:443811 |
Acute Interstitial Pneumonia |
|
Nodular pattern on pulmonary HRCT, Reduced hematocrit, Bronchiectasis, Pericardial effusion, Subp... |
ORPHA:79126 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Mpi-Cdg |
|
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly,... |
ORPHA:79319 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Diabetes mellitus, Type I diabetes mellitus, Hyperglycemia |
OMIM:606176 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased basophil count, Crohn's disease, Bronchiectasis, Ulcerative colitis, Recurrent sinopulm... |
OMIM:618394 |
Chitayat Syndrome |
|
Polyhydramnios, Abnormal pulmonary interstitial morphology, Respiratory distress, Tracheomalacia,... |
OMIM:617180 |
Immunodeficiency 7 |
|
Hypereosinophilia, Persistent EBV viremia, Severe varicella zoster infection, Chronic oral candid... |
OMIM:615387 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent bacterial infections, Thromb... |
ORPHA:169079 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Respiratory distress |
ORPHA:238329 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Inflammatory abnormality of the skin, Asthma, Skin rash, Chronic mucocutaneous... |
OMIM:102700 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent sinopulmonary infections, Lymphop... |
OMIM:619846 |
Ethylene Glycol Poisoning |
|
Hypotension, Episodic respiratory distress, Cerebral edema, Pulmonary edema, Congestive heart fai... |
ORPHA:31826 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Tubulointerstitial nephritis, Leukopenia, Respiratory distress, Failure to... |
OMIM:251000 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... |
ORPHA:2585 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory insufficiency, Respiratory distress, Failure to thrive, Restrictive ventilatory defec... |
OMIM:614399 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Paradoxical respiration, Respiratory distress, Recurrent acute respiratory tract infection |
OMIM:620011 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Hypertension, Pulmonary hypoplasia, Respiratory distress, Oligohydramnios |
OMIM:616733 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Respiratory distress, Upper airway obstruction, Dyspnea, Cough, Stridor, Neoplasm of... |
ORPHA:142 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Anemia, Skin rash, Edema, Hemophagocytosis, Thrombocytopenia, Neutropenia, Spleno... |
OMIM:603552 |
Immunodeficiency 64 With Lymphoproliferation |
|
Bronchiectasis, Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thro... |
OMIM:618534 |
Hellp Syndrome |
|
Hemolytic anemia, Pulmonary edema, Microangiopathic hemolytic anemia, Decreased mean corpuscular ... |
ORPHA:244242 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:1832 |
Lethal Recessive Chondrodysplasia |
|
Polyhydramnios, Edema, Respiratory distress |
ORPHA:1423 |
Yellow Nail Syndrome |
|
Pulmonary arterial hypertension, Rhinitis, Bronchiectasis, Lymphedema, Pleuritis, Dyspnea, Sinusi... |
ORPHA:662 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Failure to thrive, Recurrent infections, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Interstitial pneumonitis, Pulmonary fibrosis, Dyspnea |
OMIM:127550 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Abnormal pulmonary interstitial morphology, Anemia, Recurrent sinusitis, Hepatosplenomegaly, Recu... |
OMIM:613101 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Bronchiectasis, Immotile cilia, Recurrent bronchitis, Nasal polyposis, Chronic sinusiti... |
OMIM:244400 |
Ciliary Dyskinesia, Primary, 38 |
|
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Immotile cilia, Chronic... |
OMIM:618063 |
Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Exertional dyspnea, Productive cough, Petechiae, Chronic infection, Weight lo... |
ORPHA:520 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Exertional dyspnea, Transient ischemic at... |
ORPHA:99104 |
Hypertriglyceridemia 1 |
|
Hypopituitarism, Glucose intolerance |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypopituitarism, Glucose intolerance |
OMIM:144600 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Skin rash, Neutrophilia, Respiratory distress, Stomatitis, Pustule, Joint swelling... |
OMIM:612852 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent fungal infections, Recurrent mycobacterial infections, Splenomegaly, Hemolytic anemia, ... |
ORPHA:169090 |
Lujo Hemorrhagic Fever |
|
Hypotension, Cerebral edema, Shock, Crackles, Thrombocytopenia, Nonproductive cough, Skin rash, P... |
ORPHA:319213 |
Japanese Encephalitis |
|
Cerebral edema, Respiratory paralysis, Pulmonary edema, Irregular respiration, Neutrophilia, Resp... |
ORPHA:79139 |
Refractory Anemia |
|
Abnormal cardiac ventricular function, Neutropenia, Normocytic anemia, Abnormal bleeding, Erythro... |
ORPHA:98826 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... |
OMIM:240500 |
Bare Lymphocyte Syndrome, Type Ii |
|
Neutropenia, Recurrent urinary tract infections, Chronic mucocutaneous candidiasis, Cholangitis, ... |
OMIM:209920 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent opportunistic infections, Chronic oral candidiasis, T lymphocytopenia, B lymphocytopeni... |
ORPHA:35078 |
Donohue Syndrome |
|
Hyperinsulinemia, Precocious puberty, Hepatic fibrosis, Postprandial hyperglycemia, Severe failur... |
OMIM:246200 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Absence of secondary sex characteristics, Abnormal circulating hormone concentr... |
ORPHA:785 |
Choanal Atresia |
|
Abnormal nasal mucus secretion, Respiratory distress, Chronic sinusitis, Upper airway obstruction... |
ORPHA:137914 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia, Hypoxemia, Respiratory distress |
ORPHA:2140 |
Long Qt Syndrome 13 |
|
Pulmonary embolism, Torsade de pointes, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Nocardiosis |
|
Brain abscess, Pneumothorax, Productive cough, Scleritis, Unusual CNS infection, Pleural effusion... |
ORPHA:31204 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Bronchiectasis, Arthritis, Eczema, Lymphopenia, Autoimmune t... |
OMIM:616100 |
Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... |
ORPHA:1329 |
Bronchogenic Cyst |
|
Abnormal pleura morphology, Pulmonary cyst, Chronic infection, Dyspnea, Cough, Bronchogenic cyst,... |
ORPHA:2357 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... |
OMIM:612877 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly |
ORPHA:2849 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Respiratory distress, Hypertrophic cardiomyopathy, Failure to thrive, Respi... |
OMIM:613561 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... |
OMIM:233710 |
Q Fever |
|
Pericardial effusion, Hepatosplenomegaly, Pleural effusion, Pericarditis, Abnormal left ventricul... |
ORPHA:781 |
Sepsis In Premature Infants |
|
Hypotension, Decreased body weight, Meningitis, Thrombocytopenia, Splenomegaly, Enterocolitis, Se... |
ORPHA:90051 |
Primary Effusion Lymphoma |
|
Pleural effusion, Dyspnea, Pericardial effusion |
ORPHA:48686 |
Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Skin rash, Decreased proportion of CD3-positiv... |
ORPHA:331206 |
Inhalational Anthrax |
|
Hypotension, Respiratory distress, Internal hemorrhage, Dyspnea, Sepsis |
ORPHA:247257 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Anemia, Myeloid leukemia, Usual interstitial pneumonia, Reticular pattern on pulmonary HRCT, Panc... |
OMIM:614742 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Polyc... |
OMIM:600501 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Pulmonary edema, Wolff-Parkinson-White s... |
ORPHA:137675 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Hepatomegaly |
ORPHA:363400 |
Immunodeficiency 54 |
|
Respiratory insufficiency, Reduced natural killer cell count, Failure to thrive, Respiratory fail... |
OMIM:609981 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Respiratory distress, Cardiomyopathy |
ORPHA:26792 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Failure... |
OMIM:242860 |
Timothy Syndrome |
|
Bronchitis, Prolonged QT interval, Recurrent infections, Pneumonia, Bradycardia |
OMIM:601005 |
Congenital Tracheomalacia |
|
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... |
ORPHA:95430 |
Adult-Onset Still Disease |
|
Hepatitis, Pleuritis, Skin rash, Arthritis, Recurrent pharyngitis, Neutrophilia, Pericarditis, Re... |
ORPHA:829 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis... |
ORPHA:528 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Hyperhidrosis, Increased circulating prolactin conc... |
ORPHA:300373 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Abnormal pleura morphology, Abnormal breath sound, Hepatosplenomegaly, Crackles, Restrictive vent... |
ORPHA:210136 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... |
OMIM:233690 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Severe Epstein Barr virus infection, Neutropenia, Fulminant hepatitis, Lymphocytosis, Recurrent p... |
OMIM:308240 |
Total Anomalous Pulmonary Venous Return 1 |
|
Pulmonary arterial hypertension, Recurrent respiratory infections, Total anomalous pulmonary veno... |
OMIM:106700 |
Systemic Lupus Erythematosus 17 |
|
Malar rash, Leukopenia, Myelitis, Raynaud phenomenon, Lymphopenia, Autoimmune thrombocytopenia, H... |
OMIM:301080 |
Laryngotracheoesophageal Cleft |
|
Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress, Recurrent respiratory infections |
ORPHA:2004 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Failure to thrive, Respiratory distress |
OMIM:300934 |
Immunodeficiency 23 |
|
Persistent EBV viremia, Severe varicella zoster infection, Neutropenia, Bronchiectasis, Allergic ... |
OMIM:615816 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Bronchiectasis, B lymphocytopenia, Wolff-Parkinson-White syndrome, Absent circul... |
OMIM:619705 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Polyhydramnios, Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections |
ORPHA:2759 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... |
ORPHA:79 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Staphylococcus aureus infections, Pleural effusion, Rectal abscess, Recurrent E. coli i... |
OMIM:306400 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Pedal edema, Heart murmur, Elevated jugular venous pressure, Syn... |
ORPHA:422 |
Agammaglobulinemia, X-Linked |
|
Septic arthritis, T lymphocytopenia, Bronchiectasis, Prostatitis, Enteroviral hepatitis, Recurren... |
OMIM:300755 |
Scorpion Envenomation |
|
Pulmonary edema, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST s... |
ORPHA:466677 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Tubulointerstitial nephritis, Prostatitis, Inflammatory abnormality of the skin, P... |
ORPHA:449395 |
Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Hypoplasia of the thymus, Eczema, Chronic leukemia, Meningitis, Prolonged b... |
ORPHA:906 |
Sting-Associated Vasculopathy, Infantile-Onset |
|