| Immunodeficiency 18 |
|
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... |
OMIM:615615 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Recurrent viral infections, Decreased CD4:CD8 ratio... |
OMIM:615897 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
| Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
| Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... |
OMIM:242870 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... |
OMIM:300988 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia |
ORPHA:3283 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
| Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal natural killer cell ... |
OMIM:212050 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... |
OMIM:267500 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level, Recurrent infections |
OMIM:235900 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
| Immunodeficiency 62 |
|
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... |
OMIM:618459 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections |
OMIM:114580 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... |
OMIM:609529 |
| Immunodeficiency 11A |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... |
OMIM:615206 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... |
OMIM:616941 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Woolly hair, Ventr... |
OMIM:610476 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
| Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
| Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... |
OMIM:310350 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections |
OMIM:606445 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... |
OMIM:615214 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent infections, Hepatosplenom... |
OMIM:618982 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp... |
OMIM:618944 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis |
OMIM:619549 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level |
OMIM:616911 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Asthma, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Bronchie... |
OMIM:617638 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
| Immunodeficiency 25 |
|
Recurrent herpes, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Inc... |
OMIM:610163 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Immunodeficiency 20 |
|
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... |
OMIM:615707 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... |
OMIM:608106 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, Syncope, T-wave... |
OMIM:611528 |
| Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... |
OMIM:137100 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
| Immunodeficiency 44 |
|
Lymphopenia, Severe viral infection, Decreased circulating total IgM, Abnormal circulating IgG le... |
OMIM:616636 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... |
OMIM:202700 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
| Immunodeficiency 95 |
|
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... |
OMIM:619773 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Otitis media, Decreased circulating IgG level, Recurrent bronchitis |
OMIM:312863 |
| Idiopathic Achalasia |
|
Bronchitis, Wheezing, Malnutrition, Dysphagia, Gastroesophageal reflux, Cough, Recurrent aspirati... |
ORPHA:930 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
| Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ... |
OMIM:618987 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
| Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Increased circu... |
ORPHA:277 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
| Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf... |
OMIM:614493 |
| Immunodeficiency 15B |
|
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Monocytosis, Decr... |
OMIM:615592 |
| Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
| Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... |
OMIM:611493 |
| Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Candida esophagitis, Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent ... |
OMIM:619281 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... |
ORPHA:70592 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
| Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut... |
OMIM:607594 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Necrotizing enterocolitis |
OMIM:613860 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
| Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
| Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi... |
OMIM:618108 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... |
OMIM:617514 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati... |
OMIM:243700 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... |
OMIM:301082 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Nasogastric tube feeding in infancy, Upper airway obstruction, Cle... |
ORPHA:141152 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia, Recurrent infections |
OMIM:617014 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
| Immunodeficiency 13 |
|
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... |
OMIM:615518 |
| Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re... |
OMIM:612444 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Immunodeficiency 48 |
|
Recurrent respiratory infections, Pneumonia, Diarrhea, Eczematoid dermatitis, Panhypogammaglobuli... |
OMIM:269840 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Recurrent viral infections... |
ORPHA:217390 |
| Immunodeficiency 19 |
|
Recurrent respiratory infections, Severe viral infection, T lymphocytopenia, Abnormal B cell morp... |
OMIM:615617 |
| Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Mucoid diarrhea, Increased circulating IgE level, Inflammation ... |
OMIM:615767 |
| Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infections, Inc... |
ORPHA:98813 |
| Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Decreased... |
OMIM:616740 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... |
OMIM:617765 |
| Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, D... |
OMIM:300635 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreas... |
OMIM:618394 |
| Lymphoproliferative Syndrome 3 |
|
Severe varicella zoster infection, Hepatosplenomegaly, Recurrent infections, Decreased circulatin... |
OMIM:618261 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... |
OMIM:618969 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop... |
ORPHA:169079 |
| Whim Syndrome 2 |
|
Severe infection, Recurrent gingivitis, Chronic neutropenia |
OMIM:619407 |
| Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... |
OMIM:619824 |
| Immunodeficiency 104 |
|
Pneumonia, Eczema, Diarrhea, Chronic mucocutaneous candidiasis, Gastroesophageal reflux, Otitis m... |
OMIM:608971 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
| Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
| Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... |
OMIM:616022 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... |
OMIM:619924 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Recurrent herpes, Eosinophilia, Recurrent pneumonia, Recurrent candida infections, R... |
ORPHA:169160 |
| Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased circulating tota... |
OMIM:614878 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
| Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level |
OMIM:614102 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size, Gait disturbance |
ORPHA:1875 |
| Immunodeficiency 37 |
|
Colitis, Infectious encephalitis, Decreased circulating antibody level |
OMIM:616098 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis |
OMIM:617006 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Autoimmune thrombocyt... |
OMIM:619220 |
| Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... |
OMIM:618254 |
| Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
| Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... |
OMIM:193670 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... |
OMIM:619774 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Increased circulating antibody level, Pneumonia |
OMIM:247800 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
| Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recu... |
OMIM:240500 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
| Young Syndrome |
|
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... |
OMIM:279000 |
| Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi... |
OMIM:615451 |
| Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
| Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
| Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
| Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
| Immunodeficiency 21 |
|
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... |
OMIM:614172 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
| Acute Lung Injury |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneu... |
ORPHA:178320 |
| Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:300991 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Recurrent infections, Anemia, Leukopenia, Increased c... |
OMIM:615285 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu... |
OMIM:147060 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Sp... |
OMIM:614470 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration, Mental deterioration |
OMIM:610951 |
| Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... |
OMIM:619846 |
| Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:616726 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Recurrent viral infections, Abnormal CD4:CD8 ratio, Recurrent candida infection... |
ORPHA:572 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Depression, Lateral ventricle dilata... |
OMIM:615889 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
| Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Abnormal circulating inter... |
ORPHA:70578 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, Pneumonia, Recurrent upper respiratory tract infections |
OMIM:618806 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
| Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... |
OMIM:618131 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
| Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
| Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
| 5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Persisten... |
OMIM:620282 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Recurrent upper respiratory tract infections, Recur... |
OMIM:619752 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Immunodeficiency 76 |
|
Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent bronchiolitis |
OMIM:619164 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... |
OMIM:209920 |
| Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:608644 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eosinophilia, Increased circulating IgE level, Recurrent pneumo... |
OMIM:618282 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
| Alzheimer Disease 9, Susceptibility To |
|
Neurofibrillary tangles, Depression, Hippocampal atrophy, Disinhibition, Senile plaques, Memory i... |
OMIM:608907 |
| Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... |
ORPHA:2688 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| Griscelli Syndrome, Type 2 |
|
Hemophagocytosis, Reduced delayed hypersensitivity, Recurrent bacterial infections, Hepatosplenom... |
OMIM:607624 |
| Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect... |
OMIM:611884 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, Conjunctivitis, Otitis media, Panhypogammaglob... |
OMIM:601457 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Recurrent upper respira... |
ORPHA:436159 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... |
OMIM:616005 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
| Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
| Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida... |
OMIM:614069 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy |
OMIM:192600 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Cryptococcal meningitis, Lymphopenia, Persistent human papillomavirus infection |
OMIM:618309 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613021 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morphology, Decreas... |
OMIM:613101 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia |
OMIM:620265 |
| Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... |
OMIM:615481 |
| Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Hepatocellular carcinoma, Dyspnea, Wheezing, Chronic pulmonary obstruction, P... |
OMIM:613490 |
| Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis |
OMIM:618449 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... |
OMIM:614700 |
| Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
| Idiopathic Pulmonary Fibrosis |
|
Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Gastroesoph... |
ORPHA:2032 |
| Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615505 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... |
OMIM:615482 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Recurrent pneu... |
OMIM:616576 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Bronchiectasis, Decreased circulating antibody level, Increased circulating IgM level,... |
ORPHA:397596 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Recurrent respiratory infections, Increased circulating IgE level, Eosino... |
OMIM:618523 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Recurrent respir... |
OMIM:618986 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lewy bodies, Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Frontotempo... |
OMIM:607485 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... |
OMIM:614868 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... |
ORPHA:79127 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Nasogastric tube feeding in infancy,... |
ORPHA:90117 |
| Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas... |
OMIM:612649 |
| Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Lymphopenia, Persistent EBV viremia, Decreased circulating tota... |
OMIM:619510 |
| Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Respiratory insufficiency, Inflammat... |
ORPHA:26790 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... |
ORPHA:35078 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
| Visceral Myopathy 2 |
|
Necrotizing enterocolitis, Intestinal obstruction, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
| Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Bradycardia |
OMIM:619048 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... |
OMIM:308240 |
| Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Depression, Tip-toe gait, Gait disturbance, Neurodegeneration, Compulsive behaviors, Mental deter... |
OMIM:615643 |
| Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
| Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency |
ORPHA:97244 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased propor... |
OMIM:606367 |
| Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
| Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... |
OMIM:242700 |
| Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurre... |
ORPHA:444463 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... |
OMIM:610910 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
| Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615500 |
| Immunodeficiency 66 |
|
Defective T cell proliferation, Meningitis, Sepsis |
OMIM:618847 |
| Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
| Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
| Naxos Disease |
|
Sparse scalp hair, Curly hair, Sudden cardiac death, Abnormality of hair texture, Congestive hear... |
ORPHA:34217 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... |
OMIM:601495 |
| Diaminopentanuria |
|
Neurodegeneration, Ataxia |
OMIM:222350 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
| Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Decreased n... |
OMIM:617092 |
| Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... |
OMIM:102700 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Restlessness, Neurofibrillary tangles, Frontotemporal dem... |
ORPHA:100070 |
| Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:612650 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Recurrent pneumonia, Chronic diarrhea, Bronchi... |
OMIM:301220 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Recurrent infections |
OMIM:618985 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, Recurrent upper respiratory tract infections, ... |
OMIM:602450 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
| Immunodeficiency 40 |
|
Rectal fistula, Respiratory tract infection, Recurrent pneumonia, Chronic diarrhea, Interstitial ... |
OMIM:616433 |
| Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
| Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Respiratory tract infection, Abdominal distention, Secre... |
OMIM:619445 |
| Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... |
ORPHA:331235 |
| Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve... |
OMIM:300755 |
| Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor |
ORPHA:2375 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:601859 |
| Pgm3-Cdg |
|
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk... |
ORPHA:443811 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613808 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... |
OMIM:608647 |
| Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec... |
OMIM:617091 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Immunodeficiency 92 |
|
Recurrent oral herpes, Persistent CMV viremia, BCGosis, Leukocytosis, Decreased proportion of cla... |
OMIM:619652 |
| Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dyspnea, Asthma, Increased circulating IgE level,... |
ORPHA:1163 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent up... |
OMIM:616100 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne |
OMIM:604416 |
| Scedosporiosis |
|
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Bronchial br... |
ORPHA:449280 |
| Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Severe varicella zoster infection, Splenomegaly, Recurrent pneumon... |
OMIM:615122 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
| Linear Iga Dermatosis |
|
Inflammation of the large intestine, Epistaxis |
ORPHA:46488 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Feeding difficulties in infancy, Vomiting, Gastroesophageal reflux, Nausea, Eosinophilic infiltra... |
ORPHA:411696 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Neurofibrillary tangles, Frontotemporal dementia, Dementia, Memory... |
OMIM:619132 |
| Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, BCG... |
OMIM:226990 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level, Recurrent bronchiolitis, Recurrent pneumonia |
OMIM:616069 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613807 |
| Immunodeficiency, Common Variable, 10 |
|
Recurrent oral herpes, Frequent Giardia lamblia infestation, Recurrent viral upper respiratory tr... |
OMIM:615577 |
| Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Splenomegaly, ... |
OMIM:620210 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Recurrent respiratory infections, Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresi... |
OMIM:243150 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Short attention span, Hyperactivity, Impulsivity, Neurofibrillary tangles, Dy... |
OMIM:610217 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Anterior uveitis, Colitis, Skin rash |
OMIM:616744 |
| Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain |
OMIM:191390 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... |
OMIM:601005 |
| Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Immunodeficiency 23 |
|
Recurrent respiratory infections, Hemolytic anemia, Abscess, Recurrent staphylococcal infections,... |
OMIM:615816 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Ataxia, Defective DNA repair after ultraviolet radiation damage, Dementia, Brain atrophy, Deficie... |
OMIM:278760 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Ataxia, Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block, Long eyebrows |
OMIM:614407 |
| Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough |
OMIM:604809 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Distichiasis, Sinus bradycardia |
OMIM:126320 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... |
OMIM:301074 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Anorexia, Diarrhea, Inc... |
OMIM:209950 |
| Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:614679 |
| Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Cholangitis,... |
OMIM:615207 |
| Cln3 Disease |
|
T-wave inversion, Bradycardia, Hirsutism |
ORPHA:228346 |
| Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Im... |
OMIM:618063 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ... |
ORPHA:83471 |
| Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Ataxia, Dysmetria, Dysdiadochokinesis, Neurodegeneration, Difficulty walking,... |
OMIM:612319 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Cough, Asthma, Bronchiectasis, Respiratory insufficiency, Decre... |
OMIM:616037 |
| Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
| Adrenoleukodystrophy |
|
Primary adrenal insufficiency, Limb ataxia, Impotence, Dementia, Neurodegeneration, Hypogonadism,... |
OMIM:300100 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia, Nasogastric tube feeding |
OMIM:619057 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyelitis, Pneumonia |
ORPHA:319552 |
| Tularemia |
|
Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Increased circulati... |
ORPHA:3392 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Inability to walk, Cerebral atrophy, Neurodegeneration, Dysphagia, Me... |
OMIM:617672 |
| Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Ab... |
OMIM:301000 |
| Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract... |
OMIM:619446 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiti... |
ORPHA:37042 |
| Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... |
OMIM:614017 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Neurofibrillary tangles, Dementia, Agitation, Disinhibition, Semantic dementia... |
ORPHA:1020 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutropenia, Recurre... |
OMIM:301078 |
| Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Impaired T cell function, Pure r... |
OMIM:613179 |
| Immunodeficiency 22 |
|
Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased circulating to... |
OMIM:615758 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... |
OMIM:613873 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Anoperinea... |
OMIM:613960 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Po... |
ORPHA:542323 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Lung abscess, Abdominal pain, Dyspnea, Gastrointestinal dysmotility, Diar... |
ORPHA:67 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Decreased ... |
ORPHA:540 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Ataxia, Aggressive behavior, Gait apraxia, Dysmetria, Gait ataxia, Limb ataxi... |
OMIM:615157 |
| Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Chronic otitis media, Emphysema, Chronic sinusitis, Recurrent bron... |
OMIM:604571 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating IgG level, Psori... |
ORPHA:183675 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting, Chronic l... |
OMIM:616809 |
| Immunodeficiency 43 |
|
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... |
OMIM:241600 |
| Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema |
ORPHA:1164 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... |
OMIM:617780 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... |
ORPHA:133 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Esophageal stenosis, Decreased circulating antibody level |
OMIM:615190 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, Increased circu... |
OMIM:242860 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Increased circulating IgE level, Hypereosinophilia, Sepsis, Dec... |
OMIM:256500 |
| Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Thrombocytopenia, Decreased circulating antibody level, Leukope... |
OMIM:618116 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:614702 |
| Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615444 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
| De Sanctis-Cacchione Syndrome |
|
Ataxia, Bilateral cryptorchidism, Axonal degeneration, Scissor gait, Defective DNA repair after u... |
OMIM:278800 |
| Alzheimer Disease 3 |
|
Neurofibrillary tangles, Dementia, Gait disturbance, Dysphagia, Memory impairment, Cerebral corti... |
OMIM:607822 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Severe infection, Increased circulat... |
OMIM:304790 |
| Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Bronchiectasis |
OMIM:608957 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
| Ciliary Dyskinesia, Primary, 13 |
|
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... |
OMIM:613193 |
| Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonary interstitial... |
OMIM:612387 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... |
ORPHA:911 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Arrhythmia, Bradycardia |
OMIM:609286 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... |
OMIM:614935 |
| Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abdominal pain, Abnormal stomach morpholog... |
ORPHA:2357 |
| Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Ataxia, Impulsivity, Mental deteriora... |
OMIM:614298 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Recurrent otitis media, Periodontitis, Pneumonia, Bronchiolitis |
OMIM:266265 |
| Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... |
OMIM:619971 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
| Neuronal Intestinal Pseudoobstruction |
|
Recurrent infections, Decreased circulating antibody level |
ORPHA:99811 |
| Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Aggressive behavior, Neurofibrillary tangles, Limb ataxia, Gait ataxia, Depre... |
OMIM:137440 |
| Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Skin rash, Diffuse alveolar hemorrhage, Feeding difficulties in infancy, Secreto... |
OMIM:616050 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Bronchiectasis |
OMIM:619126 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Perianal abscess, Severe varicella zoster ... |
OMIM:618213 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
| Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Nasal regurgitation, ... |
ORPHA:99772 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... |
ORPHA:2137 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Recurrent respiratory infections, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
| Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Eczema, Celiac disease, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract ... |
OMIM:615952 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... |
OMIM:618935 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Abdominal pain, Nonproductive cough, Dyspnea, ... |
ORPHA:454836 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... |
ORPHA:544482 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B... |
ORPHA:411703 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit... |
ORPHA:314478 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... |
OMIM:620197 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... |
OMIM:617744 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Respiratory tract infecti... |
ORPHA:2686 |
| Immunodeficiency 77 |
|
Chronic pulmonary obstruction, Gastroparesis, Bronchiectasis, Cutaneous abscess |
OMIM:619223 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... |
ORPHA:486 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... |
ORPHA:449400 |
| Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Colitis |
OMIM:614602 |
| Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles, Dementia, Senile plaques |
DECIPHER:48 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... |
ORPHA:70588 |
| Glutamine Deficiency, Congenital |
|
Bradycardia |
OMIM:610015 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom... |
OMIM:613011 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia, Neurofibrillary tangles, Dementia, Mental deterioration, Lewy bodies, Cerebral cortical... |
OMIM:616840 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Bronchiectasis, Recurrent upper... |
OMIM:608184 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Akinesia, Aggressive behavior, Cerebral atrophy, Dementia, Neurodegeneration,... |
OMIM:300894 |
| Immunodeficiency 68 |
|
Abscess, Sepsis, T lymphocytopenia, B lymphocytopenia, Recurrent meningitis, Abnormal natural kil... |
OMIM:612260 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Naxos Disease |
|
Curly hair, Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Sparse... |
OMIM:601214 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:603909 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia, Alopecia totalis |
OMIM:618775 |
| Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
| Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Motor neuron atrophy, Xerostomia, Depression, Agitation, Neurodege... |
ORPHA:803 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
| Thymoma |
|
Myositis, Glomerulonephritis, Dyspnea, Ulcerative colitis, Decreased circulating antibody level, ... |
ORPHA:99867 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... |
ORPHA:3130 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Bronchitis, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Ab... |
OMIM:619381 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Pneumonia, Gastrointestinal stroma tumor, Bronchiectasis, Decre... |
ORPHA:1572 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... |
ORPHA:555905 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia |
ORPHA:238459 |
| Neonatal Alloimmune Neutropenia |
|
Pneumonia |
ORPHA:464370 |
| Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... |
ORPHA:3243 |
| Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Gastroesophageal reflux, Cough, Emphysema, Neonatal respir... |
ORPHA:95430 |
| Shigellosis |
|
Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocarditis, Peritonitis, Uveitis, U... |
ORPHA:810 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Gait ataxia |
ORPHA:438134 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Asthma, Atopic dermatitis, Membranous nephropathy, Colonic eosin... |
OMIM:618999 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Progressive neurologic deterioration, Cryptorchidis... |
OMIM:214150 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Diarrhea, Pyoderma, Conju... |
OMIM:307200 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otitis media, C... |
OMIM:244400 |
| Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis, Recurrent gastroenteritis |
OMIM:618648 |
| Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, Dyspnea, Nasal... |
ORPHA:90051 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Subcortical dementia, Choreoathetosis, Dementia, Neurodegeneration, Disinhibition, Dyspha... |
OMIM:606159 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Cerebral atrophy, Inappropriate behavior, Neurodegeneration, Cogn... |
ORPHA:309246 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
| Familial Thyroid Dyshormonogenesis |
|
Bradycardia |
ORPHA:95716 |
| Hermansky-Pudlak Syndrome 1 |
|
Epistaxis, Abdominal pain, Hematochezia, Restrictive ventilatory defect, Inflammation of the larg... |
OMIM:203300 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Nonprod... |
ORPHA:79126 |
| Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
| Alzheimer Disease 4 |
|
Neurofibrillary tangles, Cerebral amyloid angiopathy, Dementia, Cognitive impairment, Senile plaq... |
OMIM:606889 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
| Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... |
OMIM:275350 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Memory impairment, Frontotemporal dementia, Amyotrophic lateral sclerosis, Lewy bodies |
OMIM:619133 |
| Riddle Syndrome |
|
Pneumonia, Bronchitis, Abdominal pain, Neonatal asphyxia, Diarrhea, Recurrent pneumonia, Abnormal... |
ORPHA:420741 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia, Hirsutism |
OMIM:613327 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Tricuspid regurgitation, Sinus bradycardia, Mitral regurgitation, Pili torti, Trichorrh... |
OMIM:261990 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
| Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, High, narrow palate,... |
ORPHA:98897 |
| Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea |
ORPHA:247768 |
| Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Villous atrophy, Eczema, Diarrhea, Recurrent upper respirat... |
ORPHA:391487 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles, Memory impairment, Dementia, Aggressive behavior |
OMIM:606688 |
| Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... |
ORPHA:79128 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Poor appetite, Arthritis, Inflammation o... |
ORPHA:324964 |
| Pseudo-Torch Syndrome 2 |
|
Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
| Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... |
ORPHA:51636 |
| Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... |
ORPHA:39812 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Interstitial pneumonitis, Recurrent upper respiratory tract infec... |
OMIM:620296 |
| Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Bronchiectasis, Cough |
OMIM:619468 |
| Immunodeficiency 12 |
|
Skin rash, Esophageal stricture, Cheilitis, Bronchiectasis, Absent isohemagglutinin level, Recurr... |
OMIM:615468 |
| Good Syndrome |
|
Recurrent respiratory infections, Sinusitis, Recurrent skin infections, Dyspnea, Diarrhea, Bronch... |
ORPHA:169105 |
| Melioidosis |
|
Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory tract infection, Osteoarthritis, Hepatit... |
ORPHA:31202 |
| Bronchial Neuroendocrine Tumor |
|
Pneumonia, Anorexia, Poor appetite, Bowel urgency, Dyspnea, Nonproductive cough, Asthma, Wheezing... |
ORPHA:97287 |
| Parkinson Disease 1, Autosomal Dominant |
|
Mental deterioration, Depression, Dementia, Gait disturbance, Shuffling gait, Dysphagia, Loss of ... |
OMIM:168601 |
| Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Neo... |
ORPHA:662 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Diffuse cerebral atrophy, Cerebral atrophy, Choreoathetosis, Frontotemporal cerebra... |
ORPHA:391428 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
| Necrotizing Enterocolitis |
|
Shock, Bradycardia, Hypotension |
ORPHA:391673 |
| Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Abdo... |
ORPHA:793 |
| Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Iridocyclitis, Dyspnea, Bronchiectasis, Uveitis, Abnormal pulmonary interstitial morpho... |
OMIM:181000 |
| Ciliary Dyskinesia, Primary, 37 |
|
Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea |
OMIM:617577 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Increased circulating IgE level, Recurrent infections, Decrease... |
ORPHA:634 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
| Congenital Myopathy 22A, Classic |
|
Synophrys, Tricuspid regurgitation, Bradycardia |
OMIM:620351 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... |
OMIM:618849 |
| Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
| Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
| Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abnormal pleura morphology, Abdominal pain, Pustule, Diarrhea, Respi... |
ORPHA:29207 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Supranuclear Palsy, Progressive, 1 |
|
Akinesia, Neurofibrillary tangles, Cerebral atrophy, Granulovacuolar degeneration, Senile plaques... |
OMIM:601104 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Tachypnea, Gastroesophageal reflux, Respiratory arrest, Episodic vomiting |
OMIM:201475 |
| Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... |
ORPHA:91348 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Increased circulating IgE level, Hypereosinophilia |
ORPHA:2902 |
| Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Cryptococcal meningitis, Decreased circulating antibody level, Decreased circulating... |
ORPHA:90362 |
| Primary Progressive Freezing Gait |
|
Restless legs, Dysphagia, Dementia, Shuffling gait, Gait imbalance, Difficulty walking, Lewy bodi... |
ORPHA:75567 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Cerebral atrophy, Neurodegeneration, Neuronal loss in ... |
OMIM:256600 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abnormal pulmonary interstitial... |
OMIM:620233 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Vomiting, Infectious encephaliti... |
ORPHA:36234 |
| D-Glyceric Aciduria |
|
Bradycardia |
OMIM:220120 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Depression, Ovarian cyst, Increased circulating cortisol level, Agitati... |
OMIM:610475 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Increased circulating IgE level, Eosinophilia, Recurrent infect... |
ORPHA:2314 |
| Supranuclear Palsy, Progressive, 2 |
|
Akinesia, Neurofibrillary tangles, Granulovacuolar degeneration, Irritability, Falls, Gait imbala... |
OMIM:609454 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Recurrent infections, Bone marrow hypocellular... |
ORPHA:88 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ... |
ORPHA:221139 |
| Fusariosis |
|
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Hyp... |
ORPHA:228119 |
| Orofaciodigital Syndrome Viii |
|
High palate, Recurrent aspiration pneumonia, Cleft palate |
OMIM:300484 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... |
OMIM:228300 |
| Hereditary Late-Onset Parkinson Disease |
|
Impulsivity, Akinesia, Depression, Dementia, Agitation, Shuffling gait, Low frustration tolerance... |
ORPHA:411602 |
| Niemann-Pick Disease, Type C1 |
|
Ataxia, Neurofibrillary tangles, Gait ataxia, Dementia, Dysphagia, Neuronal loss in central nervo... |
OMIM:257220 |
| Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Bone marrow hypocellularity, At... |
OMIM:227646 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations |
OMIM:188580 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Respiratory insufficiency, Feeding difficulties, Aspiration pneumonia, Dys... |
OMIM:618253 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Bradycardia |
ORPHA:565624 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Bloom Syndrome |
|
Bronchitis, Poor appetite, Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, Decrea... |
ORPHA:125 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis... |
ORPHA:1018 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Krabbe Disease |
|
Diffuse cerebral atrophy, Motor deterioration, Neurodegeneration |
OMIM:245200 |
| Cocaine Intoxication |
|
Respiratory distress, Pulmonary edema, Glomerulonephritis, Diffuse alveolar hemorrhage, Intestina... |
ORPHA:90068 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Colitis, ... |
ORPHA:3260 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia, Decreased circulating IgG level |
OMIM:152800 |
| Nocardiosis |
|
Respiratory distress, Anorexia, Lymphadenitis, Nonproductive cough, Conjunctivitis, Vomiting, Emp... |
ORPHA:31204 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Oral leukoplakia, Inflammation of the large intestine, Esophageal stricture, Pancolitis |
OMIM:620133 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Parkinson Disease, Late-Onset |
|
Lewy bodies, Depression, Dementia, Dysphagia, Neuronal loss in central nervous system, Short step... |
OMIM:168600 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnor... |
ORPHA:760 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Anorexia, Lymphadenitis, Vomiting, Nephritis, Infec... |
ORPHA:2552 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Skin rash, Pustule, Myocarditis, Cough, Dyspnea, Hepatitis, Thyroiditis, T... |
ORPHA:139402 |
| Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Decreased circulating IgA level |
DECIPHER:45 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Periventricular heterotopia, Neurodegeneration, Inappropriate laughter, Difficulty walkin... |
OMIM:618476 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Lymphopenia, Decreased circul... |
OMIM:619767 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia, Dysphagia, Tube feeding |
ORPHA:79264 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia |
OMIM:253700 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Chronic diarrhea, Decreased specific anti-polysaccharide ant... |
OMIM:614576 |
| Sheehan Syndrome |
|
Orthostatic hypotension, Sparse axillary hair, Sparse pubic hair, Bradycardia, Palpitations, Brea... |
ORPHA:91355 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Diarrhea, Chronic mucocutaneous candidiasis, Abnormal circulati... |
ORPHA:79124 |
| Trichothiodystrophy |
|
Cryptorchidism, Partial agenesis of the corpus callosum, Defective DNA repair after ultraviolet r... |
ORPHA:33364 |
| Q Fever |
|
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Anorexia, ... |
ORPHA:781 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula... |
OMIM:619708 |
| Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Neurofibrillary tangles, Senile plaques |
OMIM:605055 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin... |
OMIM:617718 |
| Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
| Cystic Fibrosis |
|
Meconium ileus, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Re... |
OMIM:219700 |
| Mercury Poisoning |
|
Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Interstitial pneumonitis, Respi... |
ORPHA:330021 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Broad-based gait, Dementia, Neurodegeneration, Gait disturbance, Difficulty walking |
ORPHA:79244 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Choreoathetosis, Mental deterioration, Ataxia, Defective DNA repair after ultraviolet radiation d... |
OMIM:278700 |
| Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... |
ORPHA:94093 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Decreased nasal nitric oxide, Bronchiectasis, Productive cough |
OMIM:615434 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Decreased circulating IgA level |
OMIM:215250 |
| Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Dysmetria, Neurodegeneration, Loss of ambulation |
OMIM:615491 |
| Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Mental deterioration, Phonic tics, Depression, Choreoathetosis, ... |
OMIM:234200 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Premature thelarche, Oral-pharyngeal dysphagia, Cerebral atrophy, Gait ataxia, Gait distu... |
OMIM:616878 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
| Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles, Dementia |
OMIM:104300 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Cryptorchidism, Deficient excision of UV-induce... |
OMIM:227650 |
| Alzheimer Disease 2 |
|
Neurofibrillary tangles, Dementia |
OMIM:104310 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Splenomegaly, Decreased cir... |
OMIM:300972 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Abdominal pain, Intestinal perforation, Peritonitis, Rectal prolapse, Colonic stenosis, Diarrhea,... |
ORPHA:90038 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Small intestinal dysmotility, Feeding difficulties, Hypopnea, Restrictive... |
OMIM:619482 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Abnormal respiratory system physiology, Feeding diff... |
ORPHA:98905 |
| Lujo Hemorrhagic Fever |
|
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension |
ORPHA:319213 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Recur... |
ORPHA:508533 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Dysphagia, Aspiration pneumonia, Cough |
ORPHA:216866 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Choreoathetosis, Mental deterioration, Ataxia, Defective DNA repair after ultraviolet radiation d... |
OMIM:278730 |
| Plague |
|
Respiratory distress, Chapped lip, Glossitis, Skin rash, Anorexia, Abdominal pain, Erythema nodos... |
ORPHA:707 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Gastroparesis, Recurrent infections due to aspira... |
ORPHA:70 |
| Brucellosis |
|
Bronchitis, Anorexia, Knee osteoarthritis, Increased circulating IgG level, Vomiting, Infectious ... |
ORPHA:1304 |
| Dyskeratosis Congenita, Digenic |
|
Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, D... |
OMIM:620040 |
| Cerebral Visual Impairment |
|
Central nervous system degeneration, Short attention span, Neurodegeneration, Attention deficit h... |
ORPHA:447788 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Neurofibrillary tangles, Dementia, Ataxia, Cerebral amyloid angiopathy |
OMIM:117300 |
| Multiple System Atrophy 1, Susceptibility To |
|
Anhidrosis, Ataxia, Hypohidrosis, Impotence, Neurodegeneration, Cognitive impairment |
OMIM:146500 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia |
ORPHA:90673 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia |
ORPHA:204 |
| Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
| Fanconi Anemia, Complementation Group E |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Hypergonadotropic hypo... |
OMIM:600901 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Feeding difficulties in infancy, Recurrent pneumoni... |
ORPHA:314655 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Recurrent pneumonia, Chronic diarrhea, Chronic mucocutaneous candidiasis, Keratoconjun... |
OMIM:158310 |
| Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia |
ORPHA:90037 |
| Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
| Fanconi Anemia, Complementation Group C |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Bone marrow hypocellularity, Deficient excision o... |
OMIM:227645 |
| Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Aspiration pneumonia, Dysphagia |
ORPHA:52368 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... |
ORPHA:562639 |
| Wiskott-Aldrich Syndrome |
|
Recurrent respiratory infections, Sinusitis, Recurrent intrapulmonary hemorrhage, Eczema, Epistax... |
ORPHA:906 |
| Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
| Icf Syndrome |
|
Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve... |
ORPHA:2268 |
| Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... |
ORPHA:449432 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... |
ORPHA:99827 |
| Omenn Syndrome |
|
Chronic diarrhea, Pneumonia, Thyroiditis, Erythroderma |
ORPHA:39041 |
| Hereditary Orotic Aciduria |
|
Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia |
ORPHA:30 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Recurrent bronchitis, Acute lymphoblastic leukemia,... |
OMIM:208900 |
| Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
| Adult-Onset Dystonia-Parkinsonism |
|
Neurofibrillary tangles, Frontotemporal dementia, Depression, Frontotemporal cerebral atrophy, Ge... |
ORPHA:199351 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia |
ORPHA:1867 |
| Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... |
ORPHA:2908 |
| Hyperlipoproteinemia, Type Id |
|
Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Aggressive behavior, Cerebral atrophy, Gait ataxia, Irritability, Neurodegeneration |
OMIM:618321 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... |
ORPHA:309031 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Feeding difficulties, Gastroesophageal reflux, Recurrent aspiratio... |
ORPHA:79243 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Episodic tachypnea, Tachyp... |
ORPHA:26793 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte... |
OMIM:612541 |
| Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Hepatoblastoma, Bloody diarrhea, Colitis, Intractable diarrhea, Depen... |
ORPHA:84064 |
| Alpha-Mannosidosis, Adult Form |
|
Macroglossia, Pneumonia, Recurrent gastroenteritis |
ORPHA:309288 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Pneumonia, Glomeruloneph... |
ORPHA:340 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Inflammation of the large ... |
OMIM:615895 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:614162 |
| Gaucher Disease, Type Ii |
|
Apnea, Dysphagia, Feeding difficulties, Stridor, Gastroesophageal reflux, Protuberant abdomen, Co... |
OMIM:230900 |
| Bardet-Biedl Syndrome 1 |
|
Ataxia, Abnormality of the ovary, Hypogonadism, Vaginal atresia, Gait imbalance, Micropenis, Decr... |
OMIM:209900 |
| Lead Poisoning |
|
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn... |
ORPHA:330015 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Epistaxis, Diarrhea, Enterocolitis, Ulcerative colitis, Gout, Thyroiditis, Hepatocellular adenoma... |
ORPHA:79259 |
| Niemann-Pick Disease, Type C2 |
|
Ataxia, Neurofibrillary tangles, Dementia, Dysphagia, Abnormal repetitive mannerisms |
OMIM:607625 |
| Caribbean Parkinsonism |
|
Frontal lobe dementia, Progressive gait ataxia, Dementia, Lewy bodies, Cerebral cortical atrophy |
ORPHA:97355 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Abdominal pain, C... |
ORPHA:171 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Respiratory tract infection, Nonproductive cough, Dyspnea, Tachypnea, Pleural thicken... |
ORPHA:60025 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Increased circulating IgA level, Recurrent infections, Increase... |
OMIM:615934 |
| Macrocephaly/Autism Syndrome |
|
Splenomegaly, Recurrent infections, Decreased circulating antibody level, Recurrent otitis media,... |
OMIM:605309 |
| Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure, Epistaxis |
ORPHA:331 |
| Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Perit... |
ORPHA:1546 |
| Listeriosis |
|
Respiratory distress, Pericarditis, Osteomyelitis, Pneumonia, Abdominal pain, Pustule, Myocarditi... |
ORPHA:533 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia |
ORPHA:90674 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Agenesis of corpus callosum, Neuronal loss in central nervous system, Neurode... |
OMIM:616239 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Recurrent infections, Neutropenia |
OMIM:617827 |
| Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Cough,... |
ORPHA:228123 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Increased circulating IgE level |
OMIM:615508 |
| Waisman Syndrome |
|
Lewy bodies, Dementia, Shuffling gait |
OMIM:311510 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Osteomyelitis, Pulmonary embolism, Increased pulmonary vascular resistanc... |
ORPHA:70591 |
| Early-Onset Lafora Body Disease |
|
Mental deterioration, Ataxia, Confusion, Lafora bodies |
ORPHA:324290 |
| Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Defective DNA repair after ultraviolet radiation damage |
OMIM:610965 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Neurodegeneration, Dysphagia |
OMIM:615919 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circulating IgG lev... |
OMIM:612301 |
| Lafora Disease |
|
Ataxia, Confusion, Inability to walk, Depression, Lafora bodies, Dementia, Gait disturbance, Brai... |
ORPHA:501 |
| Bohring-Opitz Syndrome |
|
Synophrys, Bradycardia, Hypertrichosis |
ORPHA:97297 |
| Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Recurrent infections,... |
ORPHA:1830 |
| Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Lafora bodies, Progressive cerebellar ataxia, Dementia, Cognitive impairment |
OMIM:616640 |
| X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue |
ORPHA:53351 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hematemesis, Diarrhea, Hepatitis, Atopic de... |
OMIM:615846 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Sinus bradycardia |
OMIM:618397 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Chronic otitis media, Pneumonia |
ORPHA:169090 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
| Glycogen Storage Disease Ic |
|
Hepatoblastoma, Chronic pancreatitis, Recurrent upper respiratory tract infections, Gout, Inflamm... |
OMIM:232240 |
| Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
| Cystic Fibrosis |
|
Recurrent respiratory infections, Sinusitis, Meconium ileus, Reduced forced expiratory volume in ... |
ORPHA:586 |
| Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Constipation, Aspiration pneumonia |
ORPHA:35069 |
| Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... |
ORPHA:99826 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Tics, Compulsive behaviors, Micropenis, Abnormal repetitive mannerisms, Restrictiv... |
OMIM:619475 |
| Dementia, Lewy Body |
|
Lewy bodies, Dementia |
OMIM:127750 |
| Ebola Hemorrhagic Fever |
|
Sepsis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
| Parkinsonian-Pyramidal Syndrome |
|
Dementia, Shuffling gait, Cognitive impairment, Dysphagia, Lewy bodies |
ORPHA:171695 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dementia, Neurodegeneration, Cerebral atrophy |
OMIM:272750 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Decreased circulating total Ig... |
OMIM:607143 |
| Cholera |
|
Achlorhydria, Abdominal pain, Diarrhea, Tachypnea, Vomiting, Abdominal cramps, Aspiration pneumon... |
ORPHA:173 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Recurrent infections, Anemia, Increased circulating antibody level, Lymphopenia, Th... |
OMIM:617591 |
| Yellow Fever |
|
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... |
ORPHA:99829 |
| Omenn Syndrome |
|
Diarrhea, Pneumonia, Erythroderma |
OMIM:603554 |
| Idiopathic Camptocormia |
|
Frontotemporal dementia, Amyotrophic lateral sclerosis, Lewy bodies, Cerebral atrophy |
ORPHA:1320 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Restrictive ventilatory defect, Recurrent sinusitis,... |
OMIM:607944 |
| Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
| Nijmegen Breakage Syndrome |
|
Hyperactivity, Premature ovarian insufficiency, Neurodegeneration, Dysgammaglobulinemia |
OMIM:251260 |
| Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Recurrent viral i... |
OMIM:242840 |
| Mirage Syndrome |
|
Recurrent urinary tract infections, Sepsis, Anemia, Leukopenia, Recurrent bacterial infections, H... |
OMIM:617053 |
| Hennekam-Beemer Syndrome |
|
Pneumonia, Abdominal pain, Respiratory insufficiency, High palate, Vomiting |
ORPHA:2135 |
| Orofaciodigital Syndrome Ix |
|
High palate, Recurrent aspiration pneumonia, Cleft palate |
OMIM:258865 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukopenia, B ... |
ORPHA:508542 |
| Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... |
ORPHA:99104 |
| Chops Syndrome |
|
Gastroparesis, High, narrow palate, Anomalous pulmonary venous return, Gastroesophageal reflux, C... |
OMIM:616368 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Abnormality of male external genitalia, Decreased circulating cortisol level,... |
ORPHA:95699 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Bradycardia |
OMIM:218700 |
| Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Feeding difficulties, Macroglossia, Gastroesophageal reflux, As... |
ORPHA:354 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Recurrent respiratory infections, Pancytopenia, Hypersplenism, Splenomegaly, Decreased circulatin... |
OMIM:613385 |
| Glycogen Storage Disease Ib |
|
Gout, Inflammation of the large intestine, Protuberant abdomen, Hepatocellular carcinoma, Pancrea... |
OMIM:232220 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Interstitial pneumonitis, Vomiting, Diarrhea |
ORPHA:454831 |
| Mogs-Cdg |
|
Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Decrea... |
ORPHA:79330 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Recurrent respiratory infections, Lymphopenia, Anemia |
ORPHA:935 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Dilated cardiomyopathy, Nail dystrophy, Bradycardia |
ORPHA:79404 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Impaired T cell function, Recurrent candida infections |
OMIM:201100 |
| Spondyloenchondrodysplasia |
|
Skin rash, Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis |
ORPHA:1855 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Chronic constipation, Aspiration pneumonia, Feeding difficulties |
OMIM:616430 |
| Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration, Global brain atrophy |
ORPHA:478029 |
| Aregenerative Anemia |
|
Dyspnea, Abnormality of interleukin secretion |
ORPHA:101096 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Secretory diarrhea, Cleft palate,... |
OMIM:619573 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Skin rash, Pneumonia |
ORPHA:247691 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Recurrent infections, Decreased circulating antibody level, Dec... |
ORPHA:90363 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Anterior uveitis, Inflammatory abnormality of the skin, Respiratory failure... |
ORPHA:95455 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia |
OMIM:614437 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent pneumonia, Chronic constipation, High palate, Recurrent aspiration pneumonia, Bifid uvula |
OMIM:300472 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Poor appetite, Respiratory insufficiency due to mu... |
ORPHA:2020 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Aspiration pneumonia, Feeding difficulties |
OMIM:619167 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia |
OMIM:617248 |
| Frontometaphyseal Dysplasia 2 |
|
Feeding difficulties in infancy, Pyloric stenosis, Ulcerative colitis, Cleft palate, Stridor, Hig... |
OMIM:617137 |
| Parkinson Disease 4, Autosomal Dominant |
|
Lewy bodies, Dementia |
OMIM:605543 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Bradycardia |
ORPHA:226307 |
| Bloom Syndrome |
|
Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Decreased circulating tota... |
OMIM:210900 |
| Chediak-Higashi Syndrome |
|
Neurodegeneration, Ataxia, Impaired neutrophil bactericidal activity, Gait disturbance |
OMIM:214500 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Abnormal lung morphology, Increased circulating IgG level, Tubulointerstitial neph... |
ORPHA:449395 |
| Insulin-Resistance Syndrome Type B |
|
Skin rash, Pneumonia, Increased circulating IgA level, Osteoarthritis, Increased circulating IgG ... |
ORPHA:2298 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Recurrent infections, ... |
OMIM:620005 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Abdominal pain, Bronchie... |
ORPHA:99921 |
| Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia, Feeding difficulties |
ORPHA:95232 |
| Trichinellosis |
|
Increased circulating IgE level, Meningitis |
ORPHA:863 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
| Fumarase Deficiency |
|
Necrotizing enterocolitis, Hepatic failure, High palate |
OMIM:606812 |
| Myoclonic Epilepsy Of Lafora |
|
Dementia, Gait disturbance, Progressive neurologic deterioration, Lafora bodies |
OMIM:254780 |
| Parkinson Disease 8, Autosomal Dominant |
|
Lewy bodies, Dementia |
OMIM:607060 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infections, Perianal ab... |
ORPHA:2968 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Duodenal atresia |
OMIM:603467 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Decreased circulating antibody leve... |
OMIM:615688 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Gastroesophageal reflux, Recurrent aspiration pneumonia, Hepatic hemangioma, Dysphagia |
ORPHA:73230 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
| Shwachman-Diamond Syndrome |
|
Abnormality of the gastrointestinal tract, Sinusitis, Skin rash, Pneumonia, Eczema, Osteomyelitis... |
ORPHA:811 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, Increased circulating... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, Increased circulating... |
ORPHA:99228 |
| Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, Increased circulating... |
ORPHA:99226 |
| Turner Syndrome |
|
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, Increased circulating... |
ORPHA:881 |
| Cornelia De Lange Syndrome 1 |
|
Pneumonia, Hiatus hernia, Malrotation of colon, High, narrow palate, Pyloric stenosis, Cleft pala... |
OMIM:122470 |
| Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Pneumonia, Pustule, Respiratory tract infection, Vomiting, Infectious encephalitis, Na... |
ORPHA:68 |
| Hurler Syndrome |
|
Neurodegeneration, Progressive neurologic deterioration |
OMIM:607014 |
| Mucopolysaccharidosis, Type Vi |
|
Pneumonia, Recurrent upper respiratory tract infections, Macroglossia, Restrictive ventilatory de... |
OMIM:253200 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level |
ORPHA:457485 |
| Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Malabsorption, Respiratory tract infection, Upper airway obst... |
ORPHA:581 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Vomiting, Pneumonia |
ORPHA:90790 |
| Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level |
OMIM:212750 |
| Marshall-Smith Syndrome |
|
Apnea, Pyloric stenosis, Recurrent upper respiratory tract infections, Feeding difficulties, Stri... |
OMIM:602535 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent respiratory infections, Apnea, Tachypnea, Feeding difficulties, Gastroesophageal reflux... |
ORPHA:397715 |
| Alobar Holoprosencephaly |
|
Central apnea, Cleft palate, Dysphagia, Feeding difficulties, Bifid uvula, High palate, Vomiting,... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Cleft palate, Dysphagia, Feeding difficulties, Bifid uvula, High palate, Vomiting,... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central apnea, Cleft palate, Dysphagia, Feeding difficulties, Bifid uvula, High palate, Vomiting,... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Central apnea, Cleft palate, Dysphagia, Feeding difficulties, Bifid uvula, High palate, Vomiting,... |
ORPHA:220386 |
| Igg4-Related Ophthalmic Disease |
|
Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level |
ORPHA:449563 |
| Mucopolysaccharidosis, Type Ii |
|
Neurodegeneration |
OMIM:309900 |
| Gm1 Gangliosidosis Type 1 |
|
Macroglossia, Aspiration pneumonia, Feeding difficulties |
ORPHA:79255 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Oral leukoplakia, Dyspnea, Interstitial pneumonitis, Pulmonary fibrosis |
OMIM:127550 |
| Degcags Syndrome |
|
Jejunal atresia, Pneumonia, Protruding tongue, Oral-pharyngeal dysphagia, Pyloric stenosis, Asthm... |
OMIM:619488 |
| Dubowitz Syndrome |
|
Aplastic anemia, Recurrent infections, Acute lymphoblastic leukemia, Decreased circulating IgG le... |
OMIM:223370 |
| Primrose Syndrome |
|
Restlessness, Hypergonadotropic hypogonadism, Ataxia, Aggressive behavior, Bilateral cryptorchidi... |
OMIM:259050 |
| Alpha-Mannosidosis, Infantile Form |
|
Macroglossia, Recurrent gastroenteritis, Pneumonia, Otitis media |
ORPHA:309282 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:212065 |
| Tay-Sachs Disease |
|
Gastrostomy tube feeding in infancy, Aspiration pneumonia, Dysphagia |
ORPHA:845 |
| Mucopolysaccharidosis, Type Vii |
|
Neurodegeneration |
OMIM:253220 |
| Opitz Gbbb Syndrome |
|
Feeding difficulties in infancy, Tracheoesophageal fistula, Cleft palate, Stridor, Ankyloglossia,... |
ORPHA:2745 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Anal atresia, Anal stenosis, Feeding difficulties in infancy, Rectovestibular fistula, High palat... |
ORPHA:280633 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Malnutrition, Constipation, Aspiration pneumonia, Dysphagia |
ORPHA:99027 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Asthma, Glossoptosis, Macroglossia, High palate, Gastroesophageal reflux, Aspiration pneumonia, C... |
ORPHA:444077 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatic failure, Aspiration pneumonia, Seborrheic dermatitis |
OMIM:301072 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Pneumonia, Eczema, Abdominal distention, Peritonitis, Malnutrition, Dependency... |
OMIM:619991 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
| Simpson-Golabi-Behmel Syndrome |
|
Splenomegaly, Increased circulating IgE level, Polysplenia |
ORPHA:373 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Pneumonia, Intestinal malrotation, Asthma, Narrow palate, Gastr... |
ORPHA:353281 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Lewy bodies |
OMIM:614251 |
| Parkinson Disease 21 |
|
Lewy bodies |
OMIM:616361 |
| Monosomy 18Q |
|
Decreased circulating IgA level |
ORPHA:1600 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgA level |
ORPHA:369837 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Pneumonia, Intestinal malrotation, Feeding difficulties in infa... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Pneumonia, Intestinal malrotation, Feeding difficulties in infa... |
ORPHA:353277 |
| Coffin-Siris Syndrome |
|
Hepatoblastoma, Recurrent upper respiratory tract infections, Aspiration pneumonia, Feeding diffi... |
ORPHA:1465 |
| Niemann-Pick Disease Type C |
|
Abnormal lung morphology, Respiratory insufficiency, Feeding difficulties, Respiratory failure, A... |
ORPHA:646 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM |
OMIM:618162 |
| Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Pulmonary artery sling, Bowel incontinence, Cleft hard palate, Pyloric ste... |
ORPHA:2152 |
| Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function, Recurrent viral infections |
OMIM:176690 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Breathing dysregulation, Feeding difficulties, Gastroesophageal reflux, C... |
ORPHA:438213 |
| Viss Syndrome |
|
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... |
OMIM:619472 |
| Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Pneumonia, Dysphagia, Feeding difficulties |
OMIM:264090 |
| Kabuki Syndrome 1 |
|
Anal stenosis, Intestinal malrotation, Malabsorption, Feeding difficulties in infancy, Cleft pala... |
OMIM:147920 |
| Doors Syndrome |
|
Respiratory distress, Cleft palate, Feeding difficulties, Narrow palate, High palate, Gastroesoph... |
ORPHA:79500 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Feeding difficulties, Dysphagia, Septic arthritis, Recurrent aspiration... |
ORPHA:642 |
| Yunis-Varon Syndrome |
|
Pyloric stenosis, Feeding difficulties, High palate, Aspiration pneumonia, Pulmonary arterial hyp... |
OMIM:216340 |
| Pmm2-Cdg |
|
Respiratory distress, Pericarditis, Feeding difficulties, Vomiting, High palate, Aspiration pneum... |
ORPHA:79318 |
