Schizophrenia |
|
EEG abnormality, Social and occupational deterioration |
OMIM:181500 |
Paragangliomas 6 |
|
Hypertension, Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center, Endocardial fibrosis |
OMIM:235550 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
His Bundle Tachycardia |
|
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia |
ORPHA:3283 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:612098 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension |
OMIM:236800 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Hypotension |
ORPHA:369873 |
Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Hypotension |
OMIM:156310 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... |
OMIM:616201 |
Progressive Familial Heart Block, Type Ii |
|
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... |
OMIM:140400 |
Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block |
OMIM:618782 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Bradycardia, Atrial fibrillation |
OMIM:614302 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia |
OMIM:107970 |
Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... |
ORPHA:1344 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia, Morning glo... |
OMIM:165550 |
Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:312500 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Late-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Orthostatic hypotension... |
ORPHA:556037 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Coloboma, Ocular, Autosomal Dominant |
|
Chorioretinal coloboma, Microphthalmia, Morning glory anomaly, Optic disc coloboma, Remnants of t... |
OMIM:120200 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... |
OMIM:600858 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Dementia, Memory impairment |
OMIM:604121 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Hypertension, Prolonged QT interval, Decreased QRS voltage, Ventricular arrhythmia, Mitr... |
ORPHA:66529 |
Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis |
OMIM:617222 |
Paragangliomas 3 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Tachycardia, Chemodectoma,... |
OMIM:605373 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Syncope, Ventricular tachycardia |
ORPHA:3286 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
Hyperthyroidism, Familial Gestational |
|
Hyperthyroidism, Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Tac... |
OMIM:603373 |
Immunodeficiency 75 |
|
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... |
OMIM:619126 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
Congenital Tricuspid Stenosis |
|
Tricuspid stenosis, Pulmonary arterial hypertension, Tricuspid regurgitation, Congestive heart fa... |
ORPHA:95459 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Early-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Orthostatic hypotension... |
ORPHA:556030 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Orthostatic Hypotensive Disorder, Streeten Type |
|
Orthostatic hypotension, Syncope |
OMIM:143850 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Ventricular tachycardia, Syncope, Cardiac arrest |
OMIM:614916 |
Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, Decreased circ... |
ORPHA:95619 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Atrial septal defect, Neutropenia, Lymphopenia |
OMIM:614868 |
Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia |
OMIM:609909 |
Paragangliomas 1 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Palpita... |
OMIM:168000 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Autoim... |
ORPHA:444463 |
Incessant Infant Ventricular Tachycardia |
|
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... |
ORPHA:101016 |
Kerion Celsi |
|
Lymphadenopathy, Recurrent cutaneous abscess formation |
ORPHA:499 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Brugada Syndrome 1 |
|
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... |
OMIM:601144 |
Disseminated Sclerosis With Narcolepsy |
|
Narcolepsy |
OMIM:223300 |
Congenital Isolated Acth Deficiency |
|
Adrenal hypoplasia, Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Decreased c... |
ORPHA:199296 |
Immunodeficiency 7 |
|
Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Tachycardia, Bradycardia, Hypotension |
ORPHA:70587 |
Neuroendocrine Tumor Of The Colon |
|
Right ventricular failure, Facial telangiectasia, Atypical pulmonary carcinoid tumor, Increased s... |
ORPHA:100080 |
Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level, Syncope, Orthostatic hypotension |
ORPHA:441 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circ... |
OMIM:177735 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Adrenocorticotropic hormone deficiency, Pituitary hypothyroidism, Hypopituitarism, Central diabet... |
ORPHA:91354 |
Atrial Fibrillation, Familial, 4 |
|
Atrial fibrillation, Palpitations, Permanent atrial fibrillation, Premature atrial contractions, ... |
OMIM:611493 |
Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... |
OMIM:610193 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypotension, Hyperaldosteronism |
OMIM:264350 |
Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 level, B... |
ORPHA:95717 |
Bronchial Neuroendocrine Tumor |
|
Right ventricular failure, Facial telangiectasia, Increased serum serotonin, Palpitations, Increa... |
ORPHA:97287 |
Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia |
OMIM:267500 |
Immunodeficiency 52 |
|
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... |
OMIM:617514 |
Cardiogenic Shock |
|
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... |
ORPHA:97292 |
Corticosterone Methyloxidase Type I Deficiency |
|
Decreased circulating aldosterone level, Increased circulating renin level, Hypotension |
OMIM:203400 |
Kimura Disease |
|
Lymphadenopathy, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Maternal diabetes, Reduced ejection fraction, Supraventricular tachycardia,... |
ORPHA:45452 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death |
OMIM:612124 |
Atrial Standstill 2 |
|
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... |
OMIM:615745 |
Neuroendocrine Tumor Of The Rectum |
|
Right ventricular failure, Facial telangiectasia, Atypical pulmonary carcinoid tumor, Increased s... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Right ventricular failure, Facial telangiectasia, Atypical pulmonary carcinoid tumor, Increased s... |
ORPHA:100082 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... |
OMIM:607450 |
Atrial Standstill 1 |
|
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... |
OMIM:108770 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... |
OMIM:615441 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Cardiac arrest, Sick sinus syndrome... |
OMIM:163800 |
Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... |
OMIM:615897 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... |
OMIM:212138 |
Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block |
OMIM:192605 |
Perry Syndrome |
|
Hypotension |
ORPHA:178509 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Atrial Fibrillation, Familial, 1 |
|
Tachycardia, Atrial fibrillation |
OMIM:608583 |
Atrial Fibrillation, Familial, 3 |
|
Tachycardia, Atrial fibrillation |
OMIM:607554 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Mahvash Disease |
|
Palpitations, Increased glucagon level, Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus |
OMIM:619290 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Snakebite Envenomation |
|
Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic shock, Myocardial... |
ORPHA:449285 |
Familial Progressive Cardiac Conduction Defect |
|
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia |
ORPHA:871 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... |
OMIM:614470 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Familial Thyroid Dyshormonogenesis |
|
Congenital hypothyroidism, Goiter, Increased radioactive iodine uptake, Decreased circulating T4 ... |
ORPHA:95716 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Brugada Syndrome 9 |
|
Palpitations, Presyncope, ST segment elevation |
OMIM:616399 |
Analbuminemia |
|
Hypotension |
OMIM:616000 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:618495 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Bradycardia, Congestive heart failure |
OMIM:619048 |
Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... |
ORPHA:330001 |
Long Qt Syndrome 3 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:603830 |
Long Qt Syndrome 2 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613688 |
Long Qt Syndrome 6 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613693 |
Long Qt Syndrome 5 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613695 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension |
OMIM:261740 |
Long Qt Syndrome 1 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... |
OMIM:192500 |
Short Qt Syndrome 1 |
|
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... |
OMIM:609620 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Bundle branch block |
ORPHA:1479 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... |
OMIM:618920 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Diabetic ketoacidosis, Vasculitis, Hypotension |
ORPHA:70578 |
Mast Cell Sarcoma |
|
Lymphadenopathy, Mastocytosis, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Bradycardia, Hypogonadism, Diabetes mellitus, Abnormality of the thyroid gland, A... |
OMIM:609286 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy |
OMIM:192600 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:603552 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia |
ORPHA:542306 |
Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
Neuroendocrine Tumor Of Stomach |
|
Right ventricular failure, Facial telangiectasia, Atypical pulmonary carcinoid tumor, Increased s... |
ORPHA:100075 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... |
OMIM:115000 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... |
ORPHA:137902 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... |
OMIM:614954 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... |
OMIM:150550 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:615285 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... |
OMIM:300853 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Abnormal heart morphology, T lymphocytopenia |
DECIPHER:16 |
3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia |
OMIM:617248 |
Immunodeficiency 72 With Autoinflammation |
|
Lymphadenopathy, Hepatosplenomegaly, Increased B cell count, Increased proportion of memory T cells |
OMIM:618982 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, B lymphocytopenia, Lymphopenia, T lymphocytopenia, Absence of lymph node germinal... |
ORPHA:277 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricular... |
OMIM:615373 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Congenital hypothyroidism, Goiter, Decreased circulating T4 level, Bradycardia, Elevated circulat... |
ORPHA:226313 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... |
OMIM:618534 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
Timothy Syndrome |
|
Prolonged QT interval, Bradycardia, Hypothyroidism |
OMIM:601005 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Microphthalmia, Lymphadenopathy, Cardiomegaly, Anemia, Throm... |
ORPHA:858 |
Aapoaiv Amyloidosis |
|
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... |
ORPHA:439232 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Dementia, Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Cognitive impai... |
OMIM:607876 |
Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
Immunodeficiency 55 |
|
Lymphadenopathy, Neutropenia |
OMIM:617827 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Microcytic anemia, Recurrent tonsillitis, Splenomegaly |
OMIM:618852 |
Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Adrenal insufficiency, Orthostatic hypotension, Hypovole... |
ORPHA:427 |
Candidiasis, Familial, 2 |
|
Lymphadenopathy, Hypereosinophilia |
OMIM:212050 |
Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation |
OMIM:611878 |
Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... |
OMIM:611875 |
Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... |
ORPHA:99105 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Ileal Neuroendocrine Tumor |
|
Right ventricular failure, Tricuspid stenosis, Small intestine carcinoid, Increased serum seroton... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Right ventricular failure, Tricuspid stenosis, Small intestine carcinoid, Increased serum seroton... |
ORPHA:100077 |
Long Qt Syndrome 12 |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
Mu-Heavy Chain Disease |
|
Lymphadenopathy, Abnormal B cell count, Anemia, Splenomegaly |
ORPHA:100024 |
Short Qt Syndrome 3 |
|
Palpitations, Shortened QT interval, Tachycardia |
OMIM:609622 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Hypotension |
OMIM:263400 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Dilated cardiomyopathy, Lymphadenopathy |
OMIM:615895 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Reduced ejection fraction, Tachycardia, Heart block, Arrhythmia, Hypotension, Capillary leak |
ORPHA:542323 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... |
ORPHA:90791 |
Non-Functioning Pituitary Adenoma |
|
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the pituitary gland, Ad... |
ORPHA:91349 |
Duodenal Neuroendocrine Tumor |
|
Right ventricular failure, Tricuspid stenosis, Palpitations, Hematemesis, Insulinoma, Melena, Par... |
ORPHA:100076 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Impaired sensitivity to thyroid stimulating hormone, Congenital hypothyroidism, Thyroid hypoplasi... |
ORPHA:90673 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Decreased proportion of class-switched memory B cells, Mediastinal lympha... |
OMIM:615559 |
Cinca Syndrome |
|
Leukocytosis, Lymphadenopathy, Anemia, Papilledema, Hepatosplenomegaly, Eosinophilia |
OMIM:607115 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Focal pancreatic islet hyperplasia, Excessive insulin respo... |
ORPHA:276575 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... |
OMIM:613838 |
Aa Amyloidosis |
|
Adrenal insufficiency, Hypotension, Hypothyroidism |
ORPHA:85445 |
Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia |
OMIM:615916 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:613101 |
Familial Glucocorticoid Deficiency |
|
Hypertrophic cardiomyopathy, Decreased circulating aldosterone level, Adrenal insufficiency, Cong... |
ORPHA:361 |
Cutaneous Mastocytoma |
|
Telangiectasia macularis eruptiva perstans, Telangiectasia of the skin, Hypotension |
ORPHA:79455 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Maternal diabetes, Excessive insulin response to glucagon t... |
ORPHA:276580 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Lymphadenopathy, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, L... |
ORPHA:169154 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Tatton-Brown-Rahman Syndrome |
|
Optic nerve hypoplasia, Atrial septal defect |
OMIM:615879 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Hypotension |
OMIM:618480 |
Immunodeficiency 27A |
|
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... |
OMIM:209950 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Bundle branch block |
OMIM:615616 |
Congenital Hypothyroidism |
|
Hypertension, Goiter, Hypogonadism, Abnormality of the thyroid gland, Anterior hypopituitarism, H... |
ORPHA:442 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Arrhythmia, Pericarditis, Hypotension |
ORPHA:188 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Lymphadenitis, Abnormally low T cell receptor excisio... |
OMIM:618986 |
Tetanus |
|
Hypertension, Bradycardia, Tachycardia |
ORPHA:3299 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Abnormality of th... |
ORPHA:543 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropenia in presence... |
OMIM:607594 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, ST segment elevation, Right bundle branch block |
OMIM:613123 |
Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Familial Dilated Cardiomyopathy |
|
Reduced ejection fraction, Atrial fibrillation, Mitral regurgitation, Palpitations, Ventricular a... |
ORPHA:217607 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Diabetes mellitus, Increased circulating procalcitonin concentration, Hypotension |
ORPHA:36238 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Abnormal size of pituitary gland, Decreased circula... |
ORPHA:293978 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomegaly, Extramedu... |
OMIM:612840 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Abnormality of the optic nerve, Acute leukemia, Lymphadenopathy, Bone marrow hypoce... |
ORPHA:3226 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Neutr... |
ORPHA:54251 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytope... |
OMIM:613011 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Decreased proportion of marginal zone B ce... |
OMIM:619375 |
Pituitary Apoplexy |
|
Hypertension, Increased circulating prolactin concentration, Hypergonadotropic hypogonadism, Incr... |
ORPHA:95613 |
Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Neutropenia, Microphthalmia, Optic nerve hypoplasia, Bone marrow hypoc... |
OMIM:609053 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Abnormal pulmonary valve morphology, Optic nerve hypoplasia, Aplasia/Hypoplasia of the optic nerv... |
ORPHA:137634 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Palpitations, Syncope, Sinus bradycardia, Atrioventricular block |
OMIM:616812 |
Sheehan Syndrome |
|
Central adrenal insufficiency, Abnormal size of pituitary gland, Decreased circulating cortisol l... |
ORPHA:91355 |
14Q22Q23 Microdeletion Syndrome |
|
Anophthalmia, Optic nerve aplasia |
ORPHA:264200 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... |
ORPHA:300751 |
Infant Botulism |
|
Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
Dengue Fever |
|
Cerebral hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Hypotension |
ORPHA:99828 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Lymphadenopathy, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplast... |
OMIM:308240 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Bradycardia |
OMIM:614407 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Omenn Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymp... |
OMIM:603554 |
Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy |
OMIM:613873 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Mental deterioration, Narcolepsy, Memory impairment |
ORPHA:314404 |
Tsh-Secreting Pituitary Adenoma |
|
Goiter, Ventricular arrhythmia, Abnormality of the pituitary gland, Elevated circulating thyroid-... |
ORPHA:91347 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Palpitations, Hyperthyroidism, Tachycardia, Goiter |
OMIM:613239 |
Indolent Systemic Mastocytosis |
|
Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion of CD25+ mast ... |
ORPHA:98848 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:86893 |
Acquired Von Willebrand Syndrome |
|
Intracranial hemorrhage, Mitral regurgitation, Aortic regurgitation, Epistaxis, Joint hemorrhage,... |
ORPHA:99147 |
Prolactinoma |
|
Central adrenal insufficiency, Adrenocorticotropic hormone deficiency, Hypogonadotropic hypogonad... |
ORPHA:2965 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Decreased proportion of naive T cells, Lymph node hypoplasia, Decreased proportio... |
ORPHA:276 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia |
OMIM:608184 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusi... |
OMIM:619313 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy, Anemia |
ORPHA:158014 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Excessive insulin response to glucagon test, Palpitations, ... |
ORPHA:276556 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Orthostatic hypotension, Decreased circulating ACTH level, Pituitary adenoma,... |
ORPHA:199299 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Gluteal Muscles, Absence Of |
|
Optic nerve hypoplasia |
OMIM:231970 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... |
OMIM:619041 |
Necrotizing Enterocolitis |
|
Shock, Bradycardia, Hypotension |
ORPHA:391673 |
Atrial Fibrillation, Familial, 7 |
|
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval |
OMIM:612240 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Syncope, Maternal diabetes, Excessive insulin response to glucagon test, Maturity-onset diabetes ... |
ORPHA:324575 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular tachycardia, Cardiomyopathy, Arrhythmia, Hypotension |
ORPHA:159 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenopathy, Lymphadenitis, Absence of CD8-positive T cells, Abnormality of the lymph nodes, ... |
ORPHA:911 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation |
OMIM:612956 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Hyperthyroidism, Tachycardia, Goiter |
OMIM:188580 |
Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:545 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Orthostatic hypotension, Increased circulating corticost... |
OMIM:610600 |
Relapsing Fever |
|
Epistaxis, Tachycardia, Hypotension |
ORPHA:91547 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Acute Adrenal Insufficiency |
|
Decreased circulating aldosterone level, Androgen insufficiency, Orthostatic hypotension, Hypoten... |
ORPHA:95409 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Tachycardia, Hyperinsulinemia |
ORPHA:276608 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Atrial fibrillation, Tachycardia, Bradycardia, Hyperinsulinemia |
OMIM:613327 |
Neuroendocrine Neoplasm Of Appendix |
|
Tricuspid stenosis, Heart murmur, Increased serum serotonin, Primary hypercortisolism, Palpitatio... |
ORPHA:100079 |
Bartter Syndrome, Type 3 |
|
Increased circulating renin level, Hyperactive renin-angiotensin system, Hypotension, Hyperaldost... |
OMIM:607364 |
Schnitzler Syndrome |
|
Lymphadenopathy, Leukocytosis, Anemia, Splenomegaly |
ORPHA:37748 |
Cardiofaciocutaneous Syndrome 4 |
|
Abnormal aortic valve morphology, Optic nerve hypoplasia, Abnormal ventricular septum morphology,... |
OMIM:615280 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Hypertension, Abnormal T-wave, Re... |
ORPHA:563 |
Pde4D Haploinsufficiency Syndrome |
|
Elevated circulating parathyroid hormone level, Hypotension |
ORPHA:439822 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Pheochromocyto... |
OMIM:171420 |
Gitelman Syndrome |
|
Prolonged QT interval, Palpitations, Ventricular tachycardia, Increased circulating renin level, ... |
OMIM:263800 |
Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Roifman Syndrome |
|
Ventricular septal defect, Noncompaction cardiomyopathy, Lymphadenopathy, Retinal dystrophy, Sple... |
OMIM:616651 |
Glutamine Deficiency, Congenital |
|
Bradycardia |
OMIM:610015 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Alpha-Heavy Chain Disease |
|
Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:100025 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia |
OMIM:602450 |
Scrub Typhus |
|
Myocarditis, Hypotension |
ORPHA:83317 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Bradycardia |
OMIM:617397 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:43116 |
Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Thrombocytopenia |
OMIM:618048 |
Leishmaniasis |
|
Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, Pancytopenia, ... |
ORPHA:507 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impa... |
OMIM:618935 |
Griscelli Syndrome Type 2 |
|
Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis |
ORPHA:79477 |
Cyclic Neutropenia |
|
Lymphadenopathy, Perianal abscess, Cyclic neutropenia, Lymphopenia, Recurrent tonsillitis, Cervic... |
ORPHA:2686 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:98293 |
Tularemia |
|
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Thrombocytopenia, Lymphadenopathy, Anem... |
ORPHA:3392 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... |
ORPHA:98826 |
Immunodeficiency 10 |
|
Lymphadenopathy, Thrombocytopenia, Hypoplasia of the iris, Autoimmune hemolytic anemia |
OMIM:612783 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Goiter, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased thyroid-stimulating hormone level... |
ORPHA:90674 |
Laryngeal Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Mastocytosis |
|
Gastrointestinal hemorrhage, Arrhythmia, Telangiectasia of the skin, Hypotension |
ORPHA:98292 |
Whipple Disease |
|
Myocarditis, Pericarditis, Myocardial infarction, Gastrointestinal hemorrhage, Hypothyroidism, Hy... |
ORPHA:3452 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:2584 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Meningococcal Meningitis |
|
Shock, Hypotension |
ORPHA:33475 |
Legionnaires Disease |
|
Myocarditis, Arrhythmia, Pericarditis, Hypotension |
ORPHA:549 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Bone marrow hypocellul... |
ORPHA:101096 |
Colchicine Poisoning |
|
Myocarditis, Cardiogenic shock, Congestive heart failure, Hypovolemia, Arrhythmia, Hypotension |
ORPHA:31824 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... |
ORPHA:216694 |
Cocaine Intoxication |
|
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachycardia, My... |
ORPHA:90068 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Lymphadenopathy, Retinal dystrophy, Hepatosplenomegaly, Eosinophilia |
ORPHA:353298 |
Hemochromatosis, Type 3 |
|
Anemia, Lymphopenia, Neutropenia, Cardiomyopathy |
OMIM:604250 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:609040 |
Non-Acquired Panhypopituitarism |
|
Abnormal prolactin level, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, Decreased circ... |
ORPHA:90695 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
Caspase 8 Deficiency |
|
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating aldosterone level, Elevated circulating follicle stimulating hormone level,... |
ORPHA:289548 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphadenopathy, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating aldosterone level, Elevated circulating follicle stimulating hormone level,... |
ORPHA:168558 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:218670 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia |
OMIM:619582 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension |
ORPHA:79456 |
Addison Disease |
|
Decreased circulating aldosterone level, Hypoparathyroidism, Androgen insufficiency, Hashimoto th... |
ORPHA:85138 |
Lymphoproliferative Syndrome 2 |
|
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis |
OMIM:615122 |
Ethylene Glycol Poisoning |
|
Shock, Hypertension, Prolonged QT interval, Atrial fibrillation, Tachycardia, Congestive heart fa... |
ORPHA:31826 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Cinca Syndrome |
|
Leukocytosis, Lymphadenopathy, Retrobulbar optic neuritis, Anemia, Pseudopapilledema, Abnormal gr... |
ORPHA:1451 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Hypotension |
ORPHA:98850 |
Purine Nucleoside Phosphorylase Deficiency |
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Lymph node hypoplasia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasi... |
OMIM:613179 |
Bornholm Eye Disease |
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Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Immunodeficiency 54 |
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Lymphadenopathy, Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Bradycardia, Tachycardia |
OMIM:614653 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
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Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes |
ORPHA:97290 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
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Hypertrophic cardiomyopathy, Optic atrophy, Optic nerve hypoplasia, Peripheral axonal neuropathy |
ORPHA:496790 |
Transcobalamin Deficiency |
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Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia |
ORPHA:859 |
Orthostatic Hypotension 2 |
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Orthostatic hypotension |
OMIM:618182 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Inappropriate antidiuretic hormone secretion, Thyroid hypoplasia, Hypogonadotropic hypogonadism, ... |
ORPHA:226307 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
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Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Immunodeficiency 13 |
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B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Diamond-Blackfan Anemia 4 |
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Macrocytic anemia, Neutropenia, Erythroid hypoplasia, Atrial septal defect, Reticulocytopenia |
OMIM:612527 |
Familial Papillary Or Follicular Thyroid Carcinoma |
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Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes |
ORPHA:319487 |
Chediak-Higashi Syndrome |
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Neutropenia, Leukopenia, Ocular albinism, Lymphadenopathy, Abnormal dense granules, Giant neutrop... |
OMIM:214500 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Lymphadenopathy |
OMIM:605258 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Increased circulating progesterone, Decreased circulating aldosterone level, Increased serum test... |
ORPHA:90794 |
Atrial Tachyarrhythmia With Short Pr Interval |
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Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
Granulomatous Slack Skin |
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Abnormality of the lymph nodes |
ORPHA:33111 |
Primary Myelofibrosis |
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Leukocytosis, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Poikiloc... |
ORPHA:824 |
Adult-Onset Still Disease |
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Myocarditis, Leukocytosis, Pericarditis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia,... |
ORPHA:829 |
Congenital Enterovirus Infection |
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Myocarditis, Cardiomyopathy, Hypotension |
ORPHA:292 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Retinal detachment, Optic nerve hypoplasia, Microphthalmia |
OMIM:615181 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Splenomegaly, Pulmonic st... |
OMIM:612541 |
Middle Ear Neuroendocrine Tumor |
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Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Facial palsy |
ORPHA:100084 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
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Sinus bradycardia |
OMIM:126320 |
Chromosome 19P13.13 Deletion Syndrome |
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Optic atrophy, Optic nerve hypoplasia |
OMIM:613638 |
Glossopharyngeal Neuralgia |
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Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
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Optic nerve hypoplasia |
OMIM:614306 |
Felty Syndrome |
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Pericarditis, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellu... |
ORPHA:47612 |
Bone Marrow Failure Syndrome 6 |
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Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Pfapa Syndrome |
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Lymphadenopathy, Splenomegaly |
ORPHA:42642 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Optic nerve hypoplasia |
ORPHA:250972 |
X-Linked Intellectual Disability, Najm Type |
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Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma |
ORPHA:163937 |
Lymphangiectasia, Intestinal |
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Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
Neuroleptic Malignant Syndrome |
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Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Pulmonary embolism, Arrhythmia, Hypo... |
ORPHA:94093 |
Immunodeficiency, Common Variable, 2 |
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Lymphadenopathy, Follicular hyperplasia, Splenomegaly |
OMIM:240500 |
Systemic-Onset Juvenile Idiopathic Arthritis |
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Lymphadenopathy, Pericarditis, Splenomegaly |
ORPHA:85414 |
Hyperthyroidism, Nonautoimmune |
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Hyperthyroidism, Tachycardia, Thyroid hyperplasia, Goiter |
OMIM:609152 |
Myotonic Dystrophy 2 |
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Elevated circulating follicle stimulating hormone level, Palpitations, Tachycardia, Hypogonadism,... |
OMIM:602668 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
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Bradycardia, Paroxysmal supraventricular tachycardia |
OMIM:601375 |
Sepsis In Premature Infants |
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Tachycardia, Hypotension, Bradycardia |
ORPHA:90051 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
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Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Microphthalmia, Isolated 8 |
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Retinal detachment, Optic nerve hypoplasia, Microphthalmia |
OMIM:615113 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Lymphadenopathy |
OMIM:608106 |
Coronary Arterial Fistula |
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Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... |
ORPHA:2041 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal B cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells, Hepatosplenom... |
ORPHA:331206 |
Cholera |
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Hypovolemic shock, Tachycardia, Hypotension |
ORPHA:173 |
Immunodeficiency 14B, Autosomal Recessive |
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Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Optic atrophy, Microphthalmia, Optic nerve hypoplasia, Cardiomyopathy, Retinal detachment |
ORPHA:370959 |
Heme Oxygenase 1 Deficiency |
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Thrombocytosis, Asplenia, Lymphadenopathy, Coombs-positive hemolytic anemia, Cervical lymphadenop... |
OMIM:614034 |
Hennekam-Beemer Syndrome |
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Arrhythmia, Telangiectasia of the skin, Hypotension |
ORPHA:2135 |
Noonan Syndrome 12 |
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Thrombocytopenia, Ventricular septal defect, Tetralogy of Fallot, Lymphopenia |
OMIM:618624 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
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Optic nerve hypoplasia |
ORPHA:65288 |
Septooptic Dysplasia |
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Optic disc hypoplasia, Optic nerve hypoplasia |
OMIM:182230 |
Immunodeficiency 91 And Hyperinflammation |
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Monocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:619644 |
Crimean-Congo Hemorrhagic Fever |
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Myocarditis, Adrenal insufficiency, Subdural hemorrhage, Melena, Diffuse alveolar hemorrhage, Abn... |
ORPHA:99827 |
Alexander Disease |
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Hypertension, Diabetes mellitus, Hypothyroidism, Sudden cardiac death, Precocious puberty, Hypote... |
ORPHA:58 |
Fragile X-Associated Tremor/Ataxia Syndrome |
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Hypertension, Hypotension, Hypothyroidism |
ORPHA:93256 |
Macrophage Activation Syndrome |
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Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal ... |
ORPHA:158061 |
X-Linked Lymphoproliferative Disease |
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Myocarditis, B lymphocytopenia, Hemophagocytosis, Increased B cell count, Pancytopenia, Lymphaden... |
ORPHA:2442 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:616100 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
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Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Ventricular... |
OMIM:600996 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Lymphope... |
OMIM:600802 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Lymphadenopathy, Normochromic anemia... |
ORPHA:98849 |
American Trypanosomiasis |
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Myocarditis, Aganglionic megacolon, Lymphadenopathy, Cardiomyopathy, Splenomegaly |
ORPHA:3386 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
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Ventricular septal defect, Leukopenia, Double outlet right ventricle, Optic nerve hypoplasia, Pul... |
OMIM:301056 |
Aniridia-Intellectual Disability Syndrome |
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Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
Bacterial Toxic-Shock Syndrome |
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Myocarditis, Shock, Tachycardia, Hypotension, Capillary leak |
ORPHA:36234 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
Autosomal Dominant Hypocalcemia |
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Congestive heart failure, Arrhythmia, Hypotension |
ORPHA:428 |
Griscelli Syndrome |
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Leukopenia, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Thrombocytopenia, Abnorma... |
ORPHA:381 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
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Hypertrophic cardiomyopathy, Bradycardia |
OMIM:618775 |
Omenn Syndrome |
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Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia |
ORPHA:39041 |
Cold Agglutinin Disease |
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Lymphadenopathy, Hemolytic anemia, Splenomegaly |
ORPHA:56425 |
Gamma-Heavy Chain Disease |
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Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopeni... |
ORPHA:100026 |
Anemia, Sideroblastic, 5 |
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Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Ectopic thyroid, Congenital hypothyroidism, Goiter, Thyroid hypoplasia, Bradycardia, Elevated cir... |
OMIM:218700 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Neutropenia, Lymphadenopathy, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopen... |
OMIM:304790 |
Lujo Hemorrhagic Fever |
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Myocarditis, Shock, Subconjunctival hemorrhage, Bradycardia, Hypotension |
ORPHA:319213 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
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Optic nerve hypoplasia |
OMIM:618890 |
Gitelman Syndrome |
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Prominent U wave, Syncope, Maternal diabetes, Type II diabetes mellitus, Abnormal T-wave, Primary... |
ORPHA:358 |
Pulmonary Hypertension, Primary, 4 |
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Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... |
OMIM:615344 |
Poliomyelitis |
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Hypertension, Hypovolemic shock, Hypotension |
ORPHA:2912 |
Acute Monoblastic/Monocytic Leukemia |
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Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia, Cervical lymph... |
ORPHA:514 |
Beta-Ketothiolase Deficiency |
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Hypertension, Hypotension |
ORPHA:134 |
Fish-Eye Disease |
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Lymphadenopathy, Splenomegaly |
ORPHA:79292 |
Boutonneuse Fever |
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Lymphadenopathy, Thrombocytopenia, Cervical lymphadenopathy, Leukopenia |
ORPHA:83313 |
Combined Oxidative Phosphorylation Defect Type 39 |
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Bradycardia |
ORPHA:565624 |
Optic Atrophy-Intellectual Disability Syndrome |
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Optic disc hypoplasia, Optic nerve hypoplasia, Optic atrophy |
ORPHA:401777 |
Rhabdoid Tumor |
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Lymphadenopathy, Thrombocytopenia, Anemia |
ORPHA:69077 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Hypertension, Hypotension |
OMIM:174000 |
Hemorrhagic Fever-Renal Syndrome |
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Shock, Hypertension, Intracranial hemorrhage, Palpitations, Subconjunctival hemorrhage, Epistaxis... |
ORPHA:340 |
Hyper-Igd Syndrome |
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Leukocytosis, Optic disc pallor, Lymphadenopathy, Lymphadenitis, Rod-cone dystrophy, Splenomegaly... |
OMIM:260920 |
5Q14.3 Microdeletion Syndrome |
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Optic nerve hypoplasia |
ORPHA:228384 |
Cerebral Visual Impairment |
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Optic atrophy, Optic disc pallor, Retinopathy of prematurity, Optic nerve hypoplasia, Increased c... |
ORPHA:447788 |
Immunodeficiency 27B |
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Generalized lymphadenopathy |
OMIM:615978 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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B lymphocytopenia, Lymphadenopathy, T lymphocytopenia, Decreased proportion of CD4+CD25+ regulato... |
OMIM:606367 |
Squalene Synthase Deficiency |
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Bicuspid aortic valve, Optic nerve hypoplasia |
OMIM:618156 |
Craniotelencephalic Dysplasia |
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Optic atrophy, Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Bresek Syndrome |
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Optic nerve hypoplasia, Aganglionic megacolon, Microphthalmia |
ORPHA:85284 |
Adult Idiopathic Neutropenia |
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Monocytopenia, Neutropenia, Lymphopenia, Monocytosis |
ORPHA:2688 |
Idiopathic Aplastic Anemia |
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Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thrombocytopen... |
ORPHA:88 |
Fanconi Anemia, Complementation Group V |
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Anemia, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia |
OMIM:617243 |
Von Hippel-Lindau Disease |
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Adrenal pheochromocytoma, Pancreatic endocrine tumor, Myocarditis, Hypertension, Palpitations, Ca... |
ORPHA:892 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Lymphadenopathy, Leukocytosis, Neutrophilia, Increased proportion of CD4-positive T cells |
OMIM:617099 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
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Optic nerve hypoplasia |
OMIM:618736 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Optic nerve hypoplasia |
OMIM:617864 |
16Q24.3 Microdeletion Syndrome |
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Dilated cardiomyopathy, Ventricular septal defect, Increased mean corpuscular volume, Optic nerve... |
ORPHA:261250 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Dilated cardiomyopathy, Cardiac arrest, Hypotension |
ORPHA:20 |
Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect, Anemia, Optic nerve hypoplasia |
OMIM:609069 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Abnormal prolactin level, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, Decreased circ... |
ORPHA:95494 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:614833 |
Phace Association |
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Optic atrophy, Ventricular septal defect, Microphthalmia, Horner syndrome, Optic nerve hypoplasia... |
OMIM:606519 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
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Tachycardia |
OMIM:221400 |
Classic Hodgkin Lymphoma |
|
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly |
ORPHA:391 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... |
OMIM:617780 |
Paragangliomas 4 |
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Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Tachycardia, Paraganglioma... |
OMIM:115310 |
Castleman Disease |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Restrictive cardiomyopathy, Anemia, Generalized lym... |
ORPHA:160 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Splenomegaly |
OMIM:605309 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Ly... |
OMIM:614700 |
Sézary Syndrome |
|
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:3162 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Neutropenia, Leukopenia, Lymphadenopathy, Anemia, Pancytopenia, Thrombocytopenia |
ORPHA:520 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Bilateral microphthalmos |
OMIM:607597 |
Encephalitis Lethargica |