Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Hypertension, Essential |
|
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure |
OMIM:145500 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension, Hyperaldosteronism |
OMIM:617027 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... |
OMIM:614672 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Right ventricular dilata... |
ORPHA:2041 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... |
ORPHA:563 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hyperaldosteronism |
OMIM:605635 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Hypertension, Increased circulating cor... |
OMIM:615962 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... |
ORPHA:422 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... |
ORPHA:99105 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... |
OMIM:103900 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Edema |
OMIM:189800 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
Fibromuscular Dysplasia, Arterial |
|
Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse... |
OMIM:135580 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Hydrops fetalis, Abnormal ... |
ORPHA:45452 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Diabetes mellitus, Myocardial infarction |
OMIM:608320 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy |
OMIM:192600 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Hypokalemia, Second degree at... |
OMIM:615474 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Elevated circulating creatine ... |
OMIM:253700 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Heparin-Induced Thrombocytopenia |
|
Myocardial infarction, Pulmonary embolism, Stroke, Cerebral ischemia, Increased serum serotonin |
ORPHA:3325 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... |
OMIM:603830 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis |
ORPHA:295 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Polycystic Kidney Disease 7 |
|
Hypertension |
OMIM:620056 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... |
OMIM:608099 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Hypokalemia, Stroke, Abnormality of circulating cortisol level, Left ventricular hy... |
ORPHA:320 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Tachypnea, A... |
ORPHA:860 |
Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Epistaxis, Impaired neutrophil chemotaxis |
OMIM:260570 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat... |
ORPHA:99106 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... |
ORPHA:3400 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy,... |
OMIM:619433 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... |
ORPHA:99103 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v... |
ORPHA:99104 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... |
ORPHA:1345 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Elevated circulating creatine kinase concentration, Congestive heart failure, Quadriceps muscle w... |
ORPHA:206546 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Conges... |
OMIM:602390 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Nail-Patella-Like Renal Disease |
|
Hypertension |
ORPHA:2613 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentra... |
OMIM:255160 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Indomethacin Embryofetopathy |
|
Cardiomyopathy, Premature birth, Hydrops fetalis, Oligohydramnios |
ORPHA:1909 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion |
OMIM:619462 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Congenital Heart Block |
|
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... |
ORPHA:60041 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension |
ORPHA:2111 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension |
ORPHA:2820 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... |
OMIM:611705 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Isosexual precocio... |
ORPHA:90795 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Congenital Myopathy 8 |
|
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive hea... |
OMIM:618654 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Focal Segmental Glomerulosclerosis 5 |
|
Hypertension |
OMIM:613237 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Hypertension, Type II diabetes mellitus, Myocardial infarction |
OMIM:610947 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension |
OMIM:616818 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi... |
OMIM:540000 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Lacunar stroke, Hypertension, Transient ischemic attack |
OMIM:616779 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... |
ORPHA:231625 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension |
OMIM:607832 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:620125 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Congestive heart failure, Endocardial fibroelastosis, Restrictive cardiomyopathy,... |
ORPHA:2022 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... |
OMIM:616166 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Elevated jugular venous pressure, Diabetes mellitus, Hypogonadotropic hypogonadism,... |
ORPHA:465508 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... |
ORPHA:75566 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Liddle Syndrome 2 |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:618126 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cong... |
OMIM:613313 |
Atransferrinemia |
|
Congestive heart failure |
OMIM:209300 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:218030 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Focal Segmental Glomerulosclerosis 2 |
|
Hypertension |
OMIM:603965 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea... |
OMIM:300539 |
Liddle Syndrome 1 |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:177200 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... |
OMIM:614823 |
Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension |
OMIM:613944 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... |
ORPHA:369929 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Bicuspid aortic valve, Spontaneous pneumothorax, Chronic pulmonary obstruct... |
OMIM:619825 |
Antithrombin Iii Deficiency |
|
Arterial occlusion, Pulmonary embolism |
OMIM:613118 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Adrenal hypoplasia, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:613124 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Cardiac shunt, Elevated circulating C-reactive protein concentration, Pul... |
ORPHA:70591 |
Congenital Pulmonary Lymphangiectasia |
|
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Pulmonic st... |
ORPHA:2414 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ... |
OMIM:614492 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypotension |
OMIM:264350 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... |
OMIM:115197 |
Congenital Gerbode Defect |
|
Crackles, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpholog... |
ORPHA:99095 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, Increased circ... |
OMIM:177735 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Right ventricular dilatation, Restrictive ventilatory defect, Myopathy, Abnormal ci... |
ORPHA:369840 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Coronary artery calcification... |
OMIM:208000 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... |
ORPHA:180229 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... |
ORPHA:91348 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Oligohydramnios |
ORPHA:163596 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Dilated cardiomyopathy, Hydrops fetalis, Bradycardia, Hypertrophic cardi... |
OMIM:618815 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension |
OMIM:601894 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Adre... |
ORPHA:231632 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Increased circulating NT-p... |
ORPHA:57777 |
Maternally-Inherited Diabetes And Deafness |
|
Congestive heart failure, Hypertension, Type II diabetes mellitus, Arrhythmia, Hypertrophic cardi... |
ORPHA:225 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... |
ORPHA:231580 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Familial Cervical Artery Dissection |
|
Diabetes mellitus, Transient ischemic attack, Carotid artery dissection, Subarachnoid hemorrhage,... |
ORPHA:36382 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Descending aortic dissection, Bronchiectasis, Small thenar eminence, Ascending ... |
OMIM:620080 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Complete Atrioventricular Septal Defect |
|
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Hyperhidr... |
ORPHA:1329 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension |
OMIM:161900 |
Pituicytoma |
|
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... |
ORPHA:251623 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Butyrylcholinesterase Deficiency |
|
Congestive heart failure, Myocardial infarction |
ORPHA:132 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hyperalaninemia, Hepatomegaly, Apnea, Congestive heart failure, Bradycar... |
OMIM:619048 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata... |
OMIM:619705 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
OMIM:616198 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... |
OMIM:615779 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capillary leak, Asci... |
ORPHA:1041 |
Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis, Pulmonary embolism |
OMIM:134400 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocardi... |
ORPHA:3342 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Nuchal Bleb, Familial |
|
Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He... |
ORPHA:402075 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension |
ORPHA:401945 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Orthopnea, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, S... |
ORPHA:75249 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Cardiomyopathy, Abnormality of the amniotic fluid, Hypogonadism, Nonimmune hydrops fetalis |
OMIM:608540 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... |
OMIM:614096 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal jugular vein morphology, Increased pulmonary vascular resistanc... |
ORPHA:275766 |
Lessel-Kubisch Syndrome |
|
Hypertension, Hypogonadism |
OMIM:618681 |
Premature Ovarian Failure 16 |
|
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... |
OMIM:618723 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Premature Ovarian Failure 17 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
Pparg-Related Familial Partial Lipodystrophy |
|
Dysmenorrhea, Maternal diabetes, Prominent veins on trunk, Hepatomegaly, Calf muscle pseudohypert... |
ORPHA:79083 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral ... |
ORPHA:99429 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulati... |
OMIM:235200 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vascular... |
ORPHA:3287 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Scimitar Syndrome |
|
Respiratory distress, Heart block, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Coug... |
ORPHA:185 |
Glycogen Storage Disease Iv |
|
Decreased fetal movement, Polyhydramnios, Portal hypertension, Edema, Hydrops fetalis, Cardiomyop... |
OMIM:232500 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Congestive heart failure |
OMIM:301021 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension |
OMIM:145260 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Elevated circulating C-reactive protein concentration, Asthma, Abnormal... |
ORPHA:449400 |
Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... |
ORPHA:2299 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... |
ORPHA:99050 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Congenital adrenal hyperplasia, Adrenogenita... |
OMIM:202010 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Hypoventilation, Calf muscle pseudohypertrophy, Elevated circulating creatine kinas... |
OMIM:310200 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... |
OMIM:616030 |
Liddle Syndrome |
|
Hypertension, Arrhythmia, Cerebral ischemia |
ORPHA:526 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Right ventricular dilatation, Restrictive ventilatory defect, Limb-girdle muscular dystrophy, Myo... |
ORPHA:369847 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Pulmonary embolism, ... |
ORPHA:90308 |
Polycystic Kidney Disease 5 |
|
Hypertension |
OMIM:617610 |
46,Xx Sex Reversal 5 |
|
Increased serum testosterone level |
OMIM:618901 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Sandhoff Disease |
|
Splenomegaly, Congestive heart failure, Hepatomegaly |
ORPHA:796 |
Giant Cell Arteritis |
|
Pericarditis, Diabetes insipidus, Epistaxis, Sudden cardiac death, Cough, Vasculitis, Hyperhidros... |
ORPHA:397 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage, Pedal edema |
ORPHA:84090 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysma... |
ORPHA:49827 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent... |
ORPHA:324604 |
Mass Syndrome |
|
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse |
OMIM:604308 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Pleural effusion, Ascites, Edema |
OMIM:603278 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:615440 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level |
OMIM:619406 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Muscle fiber atrophy, Decreased muscle mass, Congestive heart failure, Recurrent pneumonia, Elbow... |
ORPHA:1900 |
Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia |
ORPHA:324588 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Prolonged QTc interval, Hyp... |
ORPHA:90065 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Hypertension |
OMIM:137950 |
Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension |
OMIM:161950 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Hypop... |
OMIM:618841 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ... |
OMIM:618986 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy |
ORPHA:53296 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Congestive heart failure, Dyspnea, Dilated cardiomyopathy, Ragged-red m... |
ORPHA:1349 |
Ovarian Fibrothecoma |
|
Metrorrhagia, Abnormal circulating hormone concentration, Increased serum testosterone level |
ORPHA:314478 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
Transaldolase Deficiency |
|
Hydrops fetalis, Edema, Telangiectasia |
ORPHA:101028 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pa... |
ORPHA:69735 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... |
ORPHA:90068 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Patent ductus arteri... |
OMIM:612863 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Atrial septal defect, Pat... |
ORPHA:980 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Bicuspid aortic valve, Arterial tortuosity, Pneumothorax, Mitral valve prolapse, Asc... |
OMIM:614816 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension |
ORPHA:79094 |
Amyloidosis, Familial Visceral |
|
Hypertension, Edema |
OMIM:105200 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Desminopathy |
|
Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficiency due to muscle weakne... |
ORPHA:98909 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Congestive heart failure, Respiratory failure, Ragged-red muscle fibers |
OMIM:616794 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Myositis, Scapular winging, Elevated circulating creatine kinase concent... |
ORPHA:206569 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension, Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulat... |
ORPHA:280356 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Decreased circ... |
OMIM:610600 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... |
ORPHA:556037 |
Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Ascites, Premature birth, Hydrops fetalis |
OMIM:269920 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Hypertension, Abnormal aortic morphology, Hyperuricemia, Arrhythmia |
ORPHA:3222 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomeg... |
OMIM:212140 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Pulmonary Hypertension, Primary, 5 |
|
Angina pectoris, Right ventricular failure, Exertional dyspnea, Syncope, Pulmonary arterial hyper... |
OMIM:265400 |
Preeclampsia |
|
Elevated diastolic blood pressure, Hypertension, Elevated systolic blood pressure, Type I diabete... |
ORPHA:275555 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Cryptorchidism, Arterial stenosis, Cerebral artery atherosclerosis, Hypertension, Type I diabetes... |
ORPHA:1192 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
ORPHA:280679 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Polyhydramnios, Dehydration |
OMIM:616069 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre... |
ORPHA:90797 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary arterial hypertension |
OMIM:619003 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ca... |
OMIM:618234 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Hyperhidrosis, Cardiomyopathy, Paroxysmal ventric... |
ORPHA:34217 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... |
ORPHA:556030 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy |
ORPHA:91130 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension |
OMIM:600666 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... |
OMIM:228300 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con... |
ORPHA:732 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent... |
ORPHA:3282 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Abnormal ovarian physiology, Premature adrenarche, Hypogona... |
ORPHA:90794 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertension, Diabetic ketoacidosis, Decreased adiponectin level, Decreased serum leptin |
OMIM:615238 |
Congenital Enterovirus Infection |
|
Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Pericardial effusion, M... |
ORPHA:292 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Hyperalaninemia, Congestive heart failure, Pulmonary arterial hypertension |
OMIM:616045 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Skeletal muscle atrophy, Decreased serum testosterone concentration, Premature ovarian insufficiency |
ORPHA:101006 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... |
OMIM:614897 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Elevated circulating creatine kinase concentration, Increased muscle lipid content, Abnormal card... |
ORPHA:565612 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Gonadoblastoma |
|
Increased serum testosterone level |
ORPHA:206484 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Dysmenorrhea, Congestive heart failure, Sp... |
ORPHA:2348 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Hepatomegaly, Neonatal respiratory distress, Respiratory distress, Exocrine ... |
OMIM:260400 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Denys-Drash Syndrome |
|
Hypertension |
ORPHA:220 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Decreased circulating gonadotr... |
OMIM:614841 |
Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Orthostatic hypotens... |
ORPHA:95512 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Camptodactyly of finger, Cryptorchidism, Conge... |
ORPHA:1194 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Decreased circulating... |
OMIM:203400 |
Extracranial Carotid Artery Aneurysm |
|
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Upper lim... |
ORPHA:494424 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:95513 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Cardiomegaly, Patent foramen ovale, ... |
OMIM:601005 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Azoo... |
ORPHA:8 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Nonimmune hydrops fetalis, Fetal pericardial effusion, Hypertension, Second degree atrioventricul... |
OMIM:617021 |
Glutaric Aciduria Iii |
|
Hypertension, Hyperthyroidism, Goiter |
OMIM:231690 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Cryptorchidism, Conges... |
OMIM:610198 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... |
OMIM:175050 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy, Streak ovary, Increased circulating gonadotropin level, Testicular dysge... |
ORPHA:168563 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Increased circulating renin level |
OMIM:620126 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Hypogonadotropic hypogonadism, Anomalous origin of left coronary artery fro... |
ORPHA:2326 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... |
OMIM:605373 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke |
OMIM:615750 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Wheezing, Hyperkalemia, Hypo... |
ORPHA:171876 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... |
OMIM:301500 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... |
OMIM:613834 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest... |
OMIM:275000 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia |
OMIM:606703 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, Myocardial infarction |
ORPHA:54370 |
Coproporphyria, Hereditary |
|
Splenomegaly, Hypertension, Tachycardia, Hepatomegaly |
OMIM:121300 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central ... |
ORPHA:453533 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Respiratory insufficiency... |
ORPHA:157973 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension |
ORPHA:757 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Pseudohypoaldosteronism, Type Iib |
|
Hypertension |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hypertension |
OMIM:614495 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... |
OMIM:300869 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163971 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... |
ORPHA:363705 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Decreased circulating cortisol level, Hypotension |
OMIM:611489 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula... |
OMIM:115250 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level |
ORPHA:96181 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Congestive heart failure, Pulmonary arterial hypertension, Camptodactyly |
OMIM:619751 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Prominent superficial veins, Diabetes mellitus, Precocious puberty in females, Hype... |
ORPHA:528 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Hepatomegaly, Skeletal muscle atrophy, Portal hypertension, Congestive hear... |
ORPHA:367 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly elevated creatine kinase, Mil... |
ORPHA:66529 |
46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Primary amenorrh... |
OMIM:273250 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... |
OMIM:615954 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Spinal muscular atrophy, Secundum atrial septal defect, Congestive... |
OMIM:616866 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism |
ORPHA:181 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Insulin-resistant diabetes mellitus |
OMIM:613877 |
Moyamoya Disease 1 |
|
Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Stroke-like episode, Abnormal heart morphology, Respiratory failure, Hy... |
ORPHA:70472 |
Potocki-Shaffer Syndrome |
|
Hypertension, Hypothyroidism, Delayed puberty |
ORPHA:52022 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Ovarian Hyperstimulation Syndrome |
|
Increased circulating gonadotropin level, Hypovolemia, Increased serum testosterone level, Capill... |
ORPHA:64739 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary venous occlusion, Pulmonary arterial hypertension, Elevated jugular venous pressure, Ab... |
OMIM:265450 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... |
ORPHA:562 |
Premature Ovarian Failure 14 |
|
Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ... |
OMIM:618014 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Cardiomegaly |
ORPHA:88643 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Medial calcification of large arteries, Adrenal calcification, Cardiomegaly... |
ORPHA:51608 |
Cednik Syndrome |
|
Congestive heart failure, Stroke, Hypogonadism |
ORPHA:66631 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Nephrog... |
OMIM:620167 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... |
ORPHA:157954 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hypergonadotropic hy... |
OMIM:203800 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Limb mu... |
OMIM:266500 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Upper limb muscle weakness, Decreased serum testosterone concentration, Lower limb muscle weaknes... |
OMIM:609195 |
Cryoglobulinemia, Familial Mixed |
|
Hypertension, Anasarca |
OMIM:123550 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Varicose veins, Pulmonic stenosis, Camptodactyly, Vascular dilatation |
OMIM:618343 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... |
OMIM:620014 |
Mulibrey Nanism |
|
Congestive heart failure, Ascites, Hydrops fetalis |
OMIM:253250 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Elevated circulating creatinine concentration, Hyperte... |
OMIM:616733 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... |
OMIM:168000 |
Müllerian Aplasia And Hyperandrogenism |
|
Primary amenorrhea, Increased serum testosterone level |
ORPHA:247768 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
OMIM:609015 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:2204 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... |
OMIM:171420 |
Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Prominent superficial veins, Peripheral arteriovenous fistula, Telangie... |
ORPHA:141179 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Oligohydramnios, Atrial flutter, Hydrops fetalis, Lymphedema |
OMIM:601927 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca... |
ORPHA:439232 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Hypertension, Abnormality of the adrenal glands, Neoplasm of the adr... |
ORPHA:251992 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Dysmenorrhea, Precocious at... |
ORPHA:280365 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Diabetes mellitus, Increased circulating ferritin concentration, Abnormal thyroid m... |
ORPHA:139507 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Dk1-Cdg |
|
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... |
ORPHA:91131 |
Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Dy... |
ORPHA:90041 |
Postorgasmic Illness Syndrome |
|
Hypertension, Xerostomia, Palpitations |
ORPHA:279947 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Dyspnea, Cough, Decreased DLCO, Pulmonary arterial hypertension |
OMIM:234810 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetalis |
OMIM:618839 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
49,Xxxyy Syndrome |
|
Abnormality of the testis size, Increased circulating gonadotropin level, Primary gonadal insuffi... |
ORPHA:261534 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Neuraminidase Deficiency |
|
Facial edema, Cardiomyopathy, Ascites, Hydrops fetalis |
OMIM:256550 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Facial hy... |
ORPHA:308552 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Congest... |
ORPHA:52430 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Decreased circulating cortisol level, Premature birth, Nonimmune hyd... |
OMIM:618835 |
Senior-Loken Syndrome |
|
Hypertension |
ORPHA:3156 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Sinusitis, Pneumonia, Facial palsy, Abnormality of the adrenal glands, Arrhy... |
ORPHA:68 |
Catastrophic Antiphospholipid Syndrome |
|
Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran... |
ORPHA:464343 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Skeletal muscle atrophy, Scapular winging, Elevated circulating... |
ORPHA:26791 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke |
OMIM:182410 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Elevated circulating acylcarnitine concentration, Congestive heart failure,... |
ORPHA:99901 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Respirator... |
ORPHA:746 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Episodic hyperhidrosis, Conge... |
ORPHA:94080 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu... |
ORPHA:363618 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Dyspnea, Heart murmur, Stroke, Bacterial endocard... |
ORPHA:1054 |
Pseudohypoaldosteronism, Type Iie |
|
Hypertension, Pseudohypoaldosteronism |
OMIM:614496 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:820 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... |
OMIM:261740 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation |
OMIM:173900 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypovolemia, Adrenal insufficiency, Increase... |
ORPHA:427 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertension, Hyperalaninemia |
OMIM:619064 |
Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Prominent superficial veins, Peripheral arteriovenous fistula, Telangie... |
ORPHA:141184 |
Achondrogenesis, Type Ib |
|
Breech presentation, Polyhydramnios, Hydrops fetalis, Edema |
OMIM:600972 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, Increased circulating gonadotropin level, Azoospermia, Primary go... |
ORPHA:99330 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertension, Type II diabetes mellitus, Myocardial infarction |
OMIM:618620 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Decreased muscle mass, Facial hypotonia, Congestive heart failure, Atrial septal defect, Diabetes... |
ORPHA:500533 |
Diffuse Neonatal Hemangiomatosis |
|
Ascites, Premature birth, Hydrops fetalis, Polyhydramnios |
ORPHA:2123 |
Chondrodysplasia, Blomstrand Type |
|
Fetal ascites, Premature birth, Hydrops fetalis, Polyhydramnios |
OMIM:215045 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, Pulmonary arteria... |
OMIM:619051 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension, Insulin-resistant diabetes mellitus |
OMIM:608600 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated he... |
OMIM:617253 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Orthostatic hypotens... |
ORPHA:95409 |
Ciliary Dyskinesia, Primary, 40 |
|
Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced respiratory cilia... |
OMIM:618300 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Adrenocorticotropic ho... |
ORPHA:91354 |
Polyarteritis Nodosa |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Cardiomy... |
ORPHA:767 |
Fetal Gaucher Disease |
|
Intracranial hemorrhage, Decreased fetal movement, Hydrops fetalis, Fetal akinesia sequence |
ORPHA:85212 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Hypertension, Increased circulating cortisol lev... |
OMIM:171400 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
Alg9-Cdg |
|
Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the ... |
ORPHA:79328 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308700 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:612336 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Capillary Malformation-Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformation, Abnormality of ... |
ORPHA:137667 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Atrial fibrillation, Arterial dissection, Camptodactyly of finger, Arterial... |
ORPHA:284984 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Marfan Syndrome |
|
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong... |
OMIM:154700 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension |
OMIM:618061 |
Paroxysmal Hemicrania |
|
Hypertension, Diabetes mellitus, Palpebral edema |
ORPHA:157835 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia |
OMIM:219250 |
Babesiosis |
|
Hepatomegaly, Myocardial infarction, Congestive heart failure, Splenomegaly, Respiratory insuffic... |
ORPHA:108 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Multiple joint contractures, Sup... |
ORPHA:2959 |
Total Anomalous Pulmonary Venous Return 1 |
|
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
American Trypanosomiasis |
|
Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Dyspnea, Cardiomyopathy, Cough... |
ORPHA:3386 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Nonimmune hydrops fetalis, Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral ... |
OMIM:607823 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Respirato... |
OMIM:618886 |
Sialidosis Type 2 |
|
Ascites, Hydrops fetalis, Pedal edema |
ORPHA:87876 |
Sengers Syndrome |
|
Premature ovarian insufficiency, Cardiac arrest, Sudden cardiac death, Respiratory insufficiency,... |
OMIM:212350 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Diabetes mellitus, Elevated circulating creatine kinase concentration, H... |
OMIM:615980 |
Homozygous Familial Hypercholesterolemia |
|
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperin... |
ORPHA:769 |
Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Pleural effusion, Br... |
ORPHA:330001 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary arteria... |
OMIM:300887 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Tachypnea, Reduced left ... |
OMIM:616501 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ... |
ORPHA:85446 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul... |
ORPHA:289548 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Congestive heart failure, Tachycardia |
ORPHA:90037 |
Maternal Uniparental Disomy Of Chromosome X |
|
Camptodactyly of finger, Congestive heart failure, Flexion contracture, Azoospermia, Primary gona... |
ORPHA:261519 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Respiratory insufficiency, Coarctat... |
OMIM:601612 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... |
OMIM:613870 |
Achondrogenesis |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:932 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Increased circulating renin level, Decr... |
ORPHA:168558 |
Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Diabetes mellitus, Elevated circulating creatine kinase ... |
ORPHA:206572 |
Nephronophthisis 18 |
|
Hypertension |
OMIM:615862 |
Bartter Syndrome, Type 3 |
|
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Hypo... |
OMIM:607364 |
Cln3 Disease |
|
T-wave inversion, Bradycardia, Increased circulating androgen concentration |
ORPHA:228346 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
OMIM:201750 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... |
ORPHA:1677 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pneumothorax, Congestive heart f... |
ORPHA:558 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Hydrops fetalis, Pleural effusion, Single umbilical artery, Hypertrophic cardiomy... |
OMIM:616897 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Prolonged QRS complex, Decreased response to growth hormone stimulation ... |
ORPHA:273 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... |
OMIM:615830 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Conges... |
ORPHA:682 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Boomerang Dysplasia |
|
Decreased response to growth hormone stimulation test, Hydrops fetalis, Polyhydramnios |
ORPHA:1263 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... |
ORPHA:183 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
Osteogenesis Imperfecta, Type Ii |
|
Congestive heart failure, Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis |
OMIM:166210 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased serum estradiol, El... |
OMIM:618117 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Pulmonary Arteriovenous Malformation |
|
Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, Heart murmur, Telang... |
ORPHA:2038 |
Leydig Cell Hypoplasia |
|
Hypergonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Testicular gonadoblastoma, I... |
ORPHA:755 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Stroke |
OMIM:611126 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... |
ORPHA:3093 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Oligohydramnios, Anhydramnios |
OMIM:191830 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Elevated circula... |
ORPHA:97287 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Myocardial infarction, Atrial septal defect, Hashimoto thyroiditis, Premat... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Atrial septal defect, Hashimoto thyroiditis, Premat... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Atrial septal defect, Hashimoto thyroiditis, Premat... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Atrial septal defect, Hashimoto thyroiditis, Premat... |
ORPHA:881 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hyperalaninemia, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Respiratory insuffi... |
OMIM:615917 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Respiratory insuffici... |
ORPHA:1166 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardio... |
ORPHA:555874 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism |
ORPHA:745 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated circul... |
OMIM:619355 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Hypertens... |
ORPHA:347 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93298 |
Avian Influenza |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:454836 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... |
OMIM:219080 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypertension, Hyperaldosteronism, Increased circulating renin level |
OMIM:612780 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hyp... |
ORPHA:73224 |
Alg6-Cdg |
|
Puberty and gonadal disorders, Increased circulating androgen concentration |
ORPHA:79320 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Scapular winging, Ventricular septal defect, Mitral regurgitation, Aortic ... |
OMIM:615582 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93299 |
Familial Pseudohyperkalemia |
|
Hypertension |
ORPHA:90044 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure, Thyro... |
ORPHA:525731 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Patent ductus arteriosus, Tachypnea, H... |
OMIM:614857 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Congestive ... |
OMIM:160980 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Male infertility, Prolonged QT interval, Tachycardia, Streak ovary, Bicuspid aortic valve, Unilat... |
ORPHA:1772 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte... |
ORPHA:77296 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Emphysema, Chronic pulm... |
ORPHA:324 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracrania... |
ORPHA:136 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small hypothenar eminence, Streak ovary, Hypergonadotropic hypogonadism, Thenar muscle atrophy, N... |
ORPHA:2232 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypertension, Type II d... |
OMIM:604367 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul... |
ORPHA:85138 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... |
OMIM:608328 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Decreased fetal movement, Hydrops fetalis, Polyhydramnios |
OMIM:255320 |
Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis |
OMIM:301080 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Female infertility, Rhinorrhea, Situs inversus totalis, Wheezing, Bronchiectasis, R... |
OMIM:617577 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Dyspnea, Hypoxemia,... |
ORPHA:199241 |
Pheochromocytoma |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodi... |
OMIM:171300 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Hypotension |
ORPHA:369873 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachycardia, Ventricular septal defec... |
OMIM:614921 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Single umbilical artery, Hydrops fetalis, Polyhydramnios |
ORPHA:3405 |
East Syndrome |
|
Hyperaldosteronism, Increased circulating renin level |
ORPHA:199343 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension |
ORPHA:567544 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... |
OMIM:617228 |
Colchicine Poisoning |
|
Hyponatremia, Respiratory distress, Myocarditis, Congestive heart failure, Hypovolemia, Abnormal ... |
ORPHA:31824 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, High-output congestive heart ... |
ORPHA:423 |
Nephronophthisis 2 |
|
Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia, Respiratory ... |
OMIM:602088 |
Gitelman Syndrome |
|
Maternal diabetes, Hyperhidrosis, Prominent U wave, Abnormal T-wave, Hashimoto thyroiditis, Rayna... |
ORPHA:358 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Chronic pancreatitis, Hand muscle weakness... |
ORPHA:98908 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Pericardial effusion, Restrictive cardiomyopathy, Hypoplasia of the thymus, Nonimmune hydrops fet... |
OMIM:619313 |
Diffuse Cutaneous Systemic Sclerosis |
|
Dyspareunia, Telangiectasia of the skin, Congestive heart failure, Dyspnea, Flexion contracture, ... |
ORPHA:220393 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration... |
OMIM:201475 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca... |
OMIM:230500 |
Stiff Skin Syndrome |
|
Hypertension, Type II diabetes mellitus |
ORPHA:2833 |
Meester-Loeys Syndrome |
|
Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the cerebral artery, Aorti... |
OMIM:300989 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... |
OMIM:601198 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ... |
OMIM:615067 |
Riboflavin Transporter Deficiency |
|
Hypertension, Hypogonadism, Diabetes insipidus |
ORPHA:97229 |
Coach Syndrome 2 |
|
Hypertension |
OMIM:619111 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypergonadotropic hypogonadism, Dysmenorrhea, Elevated circulating luteinizing hormone level, Dec... |
ORPHA:90796 |
Nephroblastoma |
|
Hypertension |
ORPHA:654 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism |
ORPHA:743 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Pelvic girdle muscle atrophy, Elevated circulating luteinizing hormone level, Elevated circulatin... |
ORPHA:3044 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Splenomegaly, Decreased serum zinc, Hypogonadism, Decreased serum testosterone conc... |
OMIM:201100 |
Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Congestive heart failure, Dyspnea, Hypoalbuminemia, Pleural empy... |
ORPHA:67 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... |
ORPHA:2298 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Eisenmenger Syndrome |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar... |
ORPHA:97214 |
Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre... |
OMIM:176670 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Paten... |
OMIM:618652 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Crackles, Pericardial effusion, Nonproduct... |
ORPHA:79126 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Decreased serum iron, Flexion contracture, Abnormal heart morphology, Pulmonar... |
ORPHA:391372 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Tachypnea, Hypertension, Pulmonary arterial hypertension, Vascular dilatation |
OMIM:613320 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... |
OMIM:609192 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic... |
ORPHA:2248 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Bilateral cry... |
ORPHA:1600 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Ventricular septal defect, Tachypnea, Double outlet right ventri... |
ORPHA:3426 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia |
OMIM:615506 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... |
ORPHA:624 |
Gaucher Disease, Type I |
|
Hepatomegaly, Epistaxis, Splenomegaly, Dyspnea, Hypertension, Mitral regurgitation, Pulmonary art... |
OMIM:230800 |
Gitelman Syndrome |
|
Prolonged QT interval, Rhabdomyolysis, Ventricular tachycardia, Hypokalemia, Increased circulatin... |
OMIM:263800 |
Galactosialidosis |
|
Conjunctival telangiectasia, Nonimmune hydrops fetalis |
OMIM:256540 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... |
ORPHA:3464 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Mullerian Aplasia And Hyperandrogenism |
|
Increased circulating dehydroepiandrosterone-sulfate concentration, Increased circulating androst... |
OMIM:158330 |
Werner Syndrome |
|
Skeletal muscle atrophy, Telangiectasia of the skin, Myocardial infarction, Abnormal cerebral vas... |
ORPHA:902 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm... |
ORPHA:228116 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Pulmonary embolism, Hypothyroidism, Hypoalbuminemia, Budd-Chiari syndrome, Intestin... |
OMIM:226300 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage |
ORPHA:69077 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level |
OMIM:214700 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Congestive heart failure, Neoplasm of the thyroid gland, Arteriovenous malf... |
ORPHA:137608 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Abnormality of thyroid physiology, Congestive heart failure, Hyperlipi... |
ORPHA:1830 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hyperammonemia, Pleural effusion, Bradycardia, Hyperalaninemi... |
OMIM:614702 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... |
OMIM:252011 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Telangiectasia of extensor surfaces, Faci... |
OMIM:137940 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage... |
ORPHA:276621 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension, Abnormal cerebral vascular morphology |
OMIM:152900 |
Robinow Syndrome |
|
Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Coarctation of aorta, Pulmo... |
ORPHA:97360 |
Loeys-Dietz Syndrome |
|
Cardiac arrest, Camptodactyly of finger, Arterial tortuosity, Patent ductus arteriosus, Aortic di... |
ORPHA:60030 |
Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Diabetes mellitus, Congestive heart failure |
OMIM:229300 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Elevated circulating cre... |
ORPHA:268 |
Ochoa Syndrome |
|
Hypertension |
ORPHA:2704 |
Vascular Ehlers-Danlos Syndrome |
|
Internal hemorrhage, Peripheral arteriovenous fistula, Cryptorchidism, Respiratory insufficiency,... |
ORPHA:286 |
Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Hypotension, Dela... |
ORPHA:2965 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Maternal diabetes, Neonatal asphyxia, Wheezing, Pneumothorax, Abnormal hear... |
ORPHA:70588 |
Lymphatic Malformation 1 |
|
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis |
OMIM:153100 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Congen... |
ORPHA:2519 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A... |
ORPHA:85450 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, Abnormality of the endocrine system, Congestive heart fai... |
ORPHA:391487 |
Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, Hypogonadotropic h... |
OMIM:241080 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent duct... |
ORPHA:505248 |
Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ... |
OMIM:617690 |
Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Tachypnea, Hyperhidrosis, Pro... |
ORPHA:466677 |
Juvenile Paget Disease |
|
Hypertension |
ORPHA:2801 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension |
OMIM:166300 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetalis |
OMIM:618838 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Diabetes mellitus |
OMIM:184850 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:231100 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Aortic regurgitation, Neonatal respiratory distress, Cerebral he... |
ORPHA:666 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Calf muscle pseudohypertrophy, Insulin-re... |
ORPHA:79086 |
Free Sialic Acid Storage Disease |
|
Ascites, Hydrops fetalis |
ORPHA:834 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Elevated circulating... |
ORPHA:90060 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension, Elevat... |
OMIM:263400 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Fetal pericardial effusion, Mitral regurgitation, Single u... |
OMIM:620244 |
Alagille Syndrome 2 |
|
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... |
OMIM:610205 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Pheochromocytoma, Adrenocortical adenoma,... |
ORPHA:139411 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Cardio... |
ORPHA:42 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Conges... |
OMIM:615895 |
Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure |
OMIM:260450 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hyperinsulinemia, Hypertension, Respiratory failure, Myopathy |
ORPHA:363400 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Congestive heart failure, Stroke |
ORPHA:3077 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Z-band streaming, Coar... |
OMIM:619178 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Myositis, Telangiectasia of the skin, Elevated circulating creatine kinase ... |
ORPHA:81 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Congestive heart failure, Patent ductus arteriosus, Splenomeg... |
OMIM:617303 |
Interstitial Lung Disease 2 |
|
Dyspnea, Cough, Decreased DLCO, Pulmonary arterial hypertension, Exertional dyspnea |
OMIM:178500 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... |
ORPHA:91139 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Pedal edema, Hypertension, Anasarca, Pl... |
ORPHA:567546 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
Alg8-Cdg |
|
Premature birth, Edema, Hydrops fetalis, Ascites, Oligohydramnios |
ORPHA:79325 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... |
OMIM:616843 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect, Recurrent ... |
ORPHA:85202 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiac arrest, Cardiomegaly, C... |
OMIM:617713 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Decreased response to growth hormone s... |
OMIM:601808 |
Cirrhosis, Familial |
|
Hypertension, Ascites, Pulmonary arterial hypertension |
OMIM:215600 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Limb hy... |
OMIM:619170 |
Adams-Oliver Syndrome 5 |
|
Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Paten... |
OMIM:616028 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Hyperhidrosis, Cardiomegaly |
OMIM:613576 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased serum estradiol, El... |
OMIM:618187 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Congestive heart failure, Vascul... |
ORPHA:727 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema |
ORPHA:1164 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Dyspnea, Bronchiectasi... |
OMIM:123700 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Atrioventricular block, Mi... |
ORPHA:371428 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Arteriosclerosis, Severe Juvenile |
|
Hypertension, Myocardial infarction, Delayed puberty |
OMIM:208060 |
Say-Barber-Miller Syndrome |
|
Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell... |
ORPHA:3132 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... |
ORPHA:210122 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal i... |
ORPHA:199296 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Asthma, Re... |
OMIM:309900 |
Pulmonary Alveolar Microlithiasis |
|
Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxygen desaturati... |
ORPHA:60025 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Hydrops fetalis |
ORPHA:88618 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus ... |
OMIM:613095 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, H... |
ORPHA:29072 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... |
ORPHA:392 |
Infant Botulism |
|
Hypertension, Xerostomia, Cardiac arrest, Hypotension |
ORPHA:178478 |
Alpha-Thalassemia |
|
Hydrops fetalis |
ORPHA:846 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Crackles, Diffuse alveolar hemorrhage, Cardiomegaly, Dyspnea, Heart murmur, Hepatos... |
ORPHA:99931 |
Gm1 Gangliosidosis |
|
Congestive heart failure, Premature birth, Hydrops fetalis, Cardiomyopathy |
ORPHA:354 |
Monosomy 18P |
|
Hypertension, Hypothyroidism, Lymphedema |
ORPHA:1598 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus ar... |
ORPHA:1120 |
C3 Glomerulopathy |
|
Hypertension |
ORPHA:329918 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing ... |
ORPHA:251510 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Pneumonia, Raynaud phenomenon, Elevated circulating creatinine conce... |
ORPHA:247691 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Congestive heart failure, Tachycardia |
ORPHA:90033 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Hypoxemia, Restr... |
OMIM:612387 |
Fanconi Renotubular Syndrome 5 |
|
Hypertension |
OMIM:618913 |
Spinal Arteriovenous Metameric Syndrome |
|
Congestive heart failure, Spinal arteriovenous malformation, Arteriovenous malformation |
ORPHA:53721 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
ORPHA:361 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Secondary Intestinal Lymphangiectasia |
|
Right ventricular failure, Intestinal bleeding, Hypocholesterolemia, Constrictive pericarditis, S... |
ORPHA:90363 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Abnormality of the thyroid gland, Coarctation of aorta, Abnormal aorti... |
ORPHA:1923 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Bradycardia, Pulmonary arterial hypertension, Increased total... |
OMIM:616299 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Hydrops fetalis |
ORPHA:766 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Secundum atrial sept... |
OMIM:614300 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypoxemia, Hypertension, Stroke, Priapism |
OMIM:603903 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Left atrial enlargement, Decreased serum leptin, Dyspnea, Flexion co... |
OMIM:614008 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Bronchiectasis, Hypoxemia, Restric... |
ORPHA:79128 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, Abnormal ... |
ORPHA:365 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Arrhythmia |
OMIM:153400 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... |
ORPHA:94093 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Secund... |
OMIM:608779 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Aortic regurgitation, Carotid artery dissection, Congenital diaphragmati... |
OMIM:208050 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Hyperinsulinemia, Central hypothyroidism... |
ORPHA:508 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Adrenal pheochromocyt... |
OMIM:115310 |
Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Coronary arte... |
ORPHA:56 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Diabetes mellitus, Hyperthyroidism, Mitral valve prolapse, Hypertension, Aortic root aneurysm, Hy... |
ORPHA:449291 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypertension, Pituitary adenoma, Increased circulating ACTH level, Edema |
OMIM:219090 |
Heme Oxygenase 1 Deficiency |
|
Hypertension, Epistaxis, Diffuse alveolar hemorrhage |
OMIM:614034 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Bronchiectasis, Mitra... |
OMIM:620233 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... |
ORPHA:31826 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Hypoplasia of the musculature, High-output congestive hear... |
ORPHA:231226 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis |
OMIM:616738 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Hypotension, Facial tel... |
ORPHA:100080 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Diabetic ketoacidosis, Hypotension, Pancreatitis |
ORPHA:70578 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Limited Cutaneous Systemic Sclerosis |
|
Foot joint contracture, Telangiectasia of the skin, Pulmonary arterial hypertension, Joint contra... |
ORPHA:220402 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure |
OMIM:178400 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhyt... |
ORPHA:3260 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Sc... |
ORPHA:98915 |
Mgat2-Cdg |
|
Abnormality of the endocrine system, Arrhythmia, Hydrops fetalis, Reflex asystolic syncope |
ORPHA:79329 |
Nelson Syndrome |
|
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... |
ORPHA:199244 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... |
OMIM:619167 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Precocious atherosclerosis, Pulmonar... |
ORPHA:444490 |
Aarskog-Scott Syndrome |
|
Cryptorchidism, Camptodactyly of finger, Congestive heart failure |
ORPHA:915 |
Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte... |
OMIM:615343 |
Erdheim-Chester Disease |
|
Hypogonadotropic hypogonadism, Abnormal pericardium morphology, Congestive heart failure, Dyspnea... |
ORPHA:35687 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci... |
OMIM:226990 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension |
OMIM:612924 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... |
ORPHA:293978 |
Bartter Syndrome Type 4 |
|
Hypertension, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating ren... |
ORPHA:89938 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Diastasis recti, Splenomegaly, Patent ductus arteriosus,... |
OMIM:608149 |
Brain-Lung-Thyroid Syndrome |
|
Hypoparathyroidism, Thyroid dysgenesis, Thyroid hemiagenesis, Respiratory distress, Ventricular s... |
ORPHA:209905 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Abnormal heart valve morphology, Apnea, Congestive heart failure, Splenomegaly, Abnorm... |
ORPHA:579 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hypertension |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hypertension |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension |
OMIM:612926 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Acquired Idiopathic Sideroblastic Anemia |
|
Splenomegaly, Congestive heart failure, Hepatomegaly |
ORPHA:75564 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arteriovenous malformation, V... |
ORPHA:90307 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... |
ORPHA:449285 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy |
OMIM:252920 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Acute pancreatitis, Portal hypertension, Pericardial effusion, Hepato... |
OMIM:619487 |
Martsolf Syndrome 1 |
|
Hypogonadotropic hypogonadism, Cardiac arrest, Congestive heart failure, Cryptorchidism, Cardiomy... |
OMIM:212720 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, High-output congestive heart failure, Spleno... |
ORPHA:231222 |
Trisomy 13 |
|
Hydrops fetalis |
ORPHA:3378 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Aspira... |
ORPHA:258 |
Trisomy 1Q |
|
Increased nuchal translucency, Hydrops fetalis, Polyhydramnios |
ORPHA:261344 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Prematu... |
ORPHA:79474 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration, Mitral valve prolapse, Hypertension, Aortic root a... |
ORPHA:730 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegaly, Congestive heart failure, De... |
ORPHA:14 |
Bardet-Biedl Syndrome |
|
Hypertension, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Myocardial infarction, Myocarditis, Pancreatic endocrine tumor, Hy... |
ORPHA:892 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hypothyroidism, Hydrops fetalis |
OMIM:613673 |
Perry Syndrome |
|
Hypotension |
ORPHA:178509 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hypoplasia of the musculature, High-output c... |
ORPHA:231214 |
Platyspondylic Dysplasia, Torrance Type |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:85166 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism |
OMIM:613090 |
Achondrogenesis, Type Ii |
|
Polyhydramnios, Hydrops fetalis, Edema |
OMIM:200610 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Low-to-normal blood pressure, Hyperactive renin-angiotensin system, Hyperald... |
OMIM:601678 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
Gm1 Gangliosidosis Type 1 |
|
Cardiomyopathy, Hydrops fetalis, Abnormal placenta morphology |
ORPHA:79255 |
Renal Hypoplasia |
|
Hypertension, Premature birth, Dehydration |
ORPHA:93101 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hyperhidrosis, Hypo... |
OMIM:268800 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Respiratory insufficiency, Respiratory failure, ... |
OMIM:613845 |
Spastic Paraplegia Type 2 |
|
Pulmonary embolism |
ORPHA:99015 |
Tetrasomy 5P |
|
Respiratory distress, Congestive heart failure, Aplasia/Hypoplasia of the abdominal wall musculat... |
ORPHA:3309 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Hypergonadotropic hypogonadism, Nonimmune hydrops fetalis, Edema, Pericardial effus... |
OMIM:212065 |
Nephronophthisis 1 |
|
Hypertension |
OMIM:256100 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Acute pancreatitis, Diabete... |
ORPHA:412 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Alport Syndrome 2, Autosomal Recessive |
|
Hypertension |
OMIM:203780 |
Poems Syndrome |
|
Diabetes mellitus, Pericardial effusion, Abnormality of the endocrine system, Respiratory insuffi... |
ORPHA:2905 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Prominent supe... |
OMIM:151660 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension, Hypothyroidism |
OMIM:617763 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Neonatal respiratory distress, Ventricular septal defect, Apnea, Flexion contracture... |
OMIM:614653 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hypertension |
OMIM:612925 |
Noonan Syndrome 9 |
|
Cryptorchidism, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Congestive heart fai... |
ORPHA:90349 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Neonatal respiratory distress, Apnea, Elevated circulating creatine kinase concentr... |
OMIM:608836 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... |
OMIM:600376 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... |
ORPHA:97289 |
Aceruloplasminemia |
|
Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... |
ORPHA:48818 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... |
ORPHA:100082 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula... |
ORPHA:567548 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa... |
ORPHA:79644 |
48,Xxxy Syndrome |
|
Pulmonary embolism, Cryptorchidism, Asthma, Azoospermia, Hypogonadism, Infertility, Type II diabe... |
ORPHA:96263 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation |
OMIM:614651 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Respiratory distress, Pulmonary embolism, Dilated card... |
ORPHA:79282 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec... |
OMIM:265380 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Pulmonary arterial hypertension, Precocious puberty, Ventricular septa... |
ORPHA:447980 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Congestive heart failure, Irregular menstruation, Respirator... |
OMIM:616482 |
Renal Hypoplasia, Bilateral |
|
Hypertension, Premature birth, Edema, Oligohydramnios |
ORPHA:97362 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hydrops fetalis |
OMIM:276822 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Pulmonary artery steno... |
ORPHA:251071 |
Necrobiosis Lipoidica |
|
Granuloma, Telangiectasia of the skin, Abnormality of neutrophil physiology |
ORPHA:542592 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction,... |
ORPHA:117 |
Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Bilateral cryptorchidism, Dyspnea, Elevated circulating thyroid-stimul... |
OMIM:242900 |
Familial Thrombocytosis |
|
Transient ischemic attack, Splenomegaly, Peripheral arterial stenosis, Hyperhidrosis, Syncope, Ce... |
ORPHA:71493 |
Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Cryptorchidism, Hypertension... |
ORPHA:52 |
Livedoid Vasculopathy |
|
Diabetes mellitus, Telangiectasia of the skin, Pedal edema, Hypertension, Ischemic stroke, Graves... |
ORPHA:542643 |
49,Xxxxy Syndrome |
|
Pulmonary embolism, Cryptorchidism, Asthma, Azoospermia, Hypogonadism, Infertility, Type II diabe... |
ORPHA:96264 |
Mucopolysaccharidosis, Type Vii |
|
Cardiomyopathy, Hydrops fetalis |
OMIM:253220 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Hyperalaninemia, Hyperglycinemia, Pulmonary arterial hypertension |
OMIM:619059 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Renal artery aneurysm, Portal hypertension, Elevated circulating C-reactive protein... |
OMIM:615688 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Congestive heart failure, Splenomegaly, Vas... |
ORPHA:33226 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Diabetes insipidu... |
ORPHA:900 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defe... |
OMIM:306955 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Analbuminemia |
|
Hypotension |
OMIM:616000 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Bilateral cryptorchidism, Congestive heart failure, Pneumothorax, Right ... |
OMIM:617403 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Renal Agenesis |
|
Hypertension, Oligohydramnios |
ORPHA:411709 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Melas |
|
Hypoparathyroidism, Wolff-Parkinson-White syndrome, Diabetes mellitus, Hypogonadotropic hypogonad... |
ORPHA:550 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp... |
ORPHA:534 |
Campomelia, Cumming Type |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
ORPHA:1318 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Portal hypertension, Hematemesis, Dehydration, Hypertension, Oligohydramnios |
OMIM:263200 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Neonatal respiratory distress, Diaphragmatic eventration, Ventricular septal defect... |
OMIM:620025 |
Mucopolysaccharidosis Type 7 |
|
Ascites, Hydrops fetalis, Lymphedema |
ORPHA:584 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Decreased female libido, Abnormality of the menstrual cy... |
ORPHA:330015 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Hyperhidrosis, Abnormal ... |
ORPHA:99827 |
Primary Progressive Freezing Gait |
|
Hypertension |
ORPHA:75567 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Tricuspid stenosis, Edema, Valvular pulmonary stenosis, Hydrops fetalis,... |
OMIM:212093 |
Adenine Phosphoribosyltransferase Deficiency |
|
Hypertension, Atrial fibrillation |
ORPHA:976 |
Lethal Congenital Contracture Syndrome 10 |
|
Oligohydramnios, Hypoplasia of the thymus, Hydrops fetalis, Fetal akinesia sequence |
OMIM:617022 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Intracranial hemorrha... |
ORPHA:99147 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, ... |
OMIM:615512 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Low-... |
OMIM:241200 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia |
OMIM:176000 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Patent foramen ... |
ORPHA:444077 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Pleural effusion, Ascites, Nonimmune hydrops fetalis |
OMIM:617049 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... |
ORPHA:228308 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Hypertension, Decreased fetal movement |
OMIM:619758 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Increased serum beta-hexosaminidase, Diastasis recti, Cardiom... |
OMIM:252500 |
Birk-Landau-Perez Syndrome |
|
Hypertension, Single umbilical artery |
OMIM:617595 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:2516 |
Beta-Ketothiolase Deficiency |
|
Hypertension, Dehydration, Hypotension, Edema |
ORPHA:134 |
Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Right ventricular failure, Hematemesis, Increased circulating ACTH level... |
ORPHA:100075 |
Posterior Urethral Valve |
|
Hypertension, Fetal pyelectasis, Oligohydramnios |
ORPHA:93110 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Congestive heart failure, Vasculitis,... |
ORPHA:2331 |
Vici Syndrome |
|
Elevated circulating creatine kinase concentration, Congestive heart failure, Dilated cardiomyopa... |
OMIM:242840 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Arterioven... |
ORPHA:974 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Hepatomegaly, Hyperbilirubinemia, Pulmonary embolism |
OMIM:185000 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Single umbilical artery, Hydrops fetalis, Increased placental thickness |
ORPHA:1865 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Asthma, Telangie... |
OMIM:606003 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
Prader-Willi Syndrome |
|
Decreased fetal movement, Diabetes mellitus, Decreased response to growth hormone stimulation tes... |
ORPHA:739 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Intraalveolar phospholipid accumulation... |
OMIM:265120 |
Diabetic Embryopathy |
|
Ventricular septal defect, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, ... |
ORPHA:1926 |
Geleophysic Dysplasia 2 |
|
Hepatomegaly, Tricuspid stenosis, Respiratory insufficiency, Mitral valve prolapse, Mitral regurg... |
OMIM:614185 |
Systemic Sclerosis |
|
Pericarditis, Elevated circulating creatine kinase concentration, Nail bed telangiectasia, Right ... |
ORPHA:90291 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... |
ORPHA:506 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Diabetic ketoacid... |
OMIM:601992 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hydrops fetalis |
OMIM:614091 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Cryptorchidism, Hyperammonemia, Respiratory insufficiency, Hypertension, Arrhythmia, Hyperalanine... |
OMIM:614052 |
Wiedemann-Rautenstrauch Syndrome |
|
Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:3455 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Skeletal muscle atrophy, Stroke-like episode, Bradycardia, Pulmonary arteri... |
OMIM:619272 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypertension, Diabetes mellitus |
ORPHA:69663 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hypoplasia of the mu... |
OMIM:254940 |
Gaucher Disease Type 3 |
|
Pericardial effusion, Pulmonary arterial hypertension, Hydrops fetalis, Delayed puberty |
ORPHA:77261 |
Pearson Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Decreased response to growth hormone stimulation test, Car... |
ORPHA:699 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Cerebral vasculitis, Pneumonia, Elevated circulating ... |
ORPHA:48435 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... |
ORPHA:99889 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Crypto... |
OMIM:612541 |
Geleophysic Dysplasia 1 |
|
Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Aortic valve... |
OMIM:231050 |
Achondrogenesis, Type Ia |
|
Increased nuchal translucency, Hydrops fetalis, Polyhydramnios, Absence of stomach bubble on feta... |
OMIM:200600 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... |
OMIM:100300 |
Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Nonimmune hydrops fetalis |
OMIM:618265 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Abnormal circulating c... |
OMIM:620306 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arterio... |
OMIM:601186 |
Caudal Regression Syndrome |
|
Hypertension, Maternal diabetes |
ORPHA:3027 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
Mosaic Trisomy 9 |
|
Single umbilical artery, Hydrops fetalis, Polyhydramnios, Oligohydramnios |
ORPHA:99776 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:43116 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Skeletal muscle atro... |
OMIM:256040 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Premature adrenarche, Diabetes mellitus, Increased circulating androgen concentration |
ORPHA:2976 |
Pulmonary Hypertension, Primary, 2 |
|
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni... |
OMIM:615342 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Intracranial hemorrhage, Hypertens... |
ORPHA:394 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Cryptorchidis... |
ORPHA:3097 |
Nephronophthisis-Like Nephropathy 1 |
|
Hypertension |
OMIM:613159 |
Farber Disease |
|
Joint swelling, Ascites, Hydrops fetalis |
ORPHA:333 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Ventricular septal defect |
OMIM:614424 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Splenomegaly, Pulmonary venous hypertension, Abnorm... |
ORPHA:3202 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Respiratory failure, Impaired myocardial contrac... |
ORPHA:158687 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, F... |
ORPHA:1359 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag... |
OMIM:608978 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Recurrent pneumonia, Cardiomegaly |
ORPHA:3137 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:49041 |
Gaucher Disease, Perinatal Lethal |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Desquamatio... |
OMIM:608013 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Bone marrow hypocellularity, Abnormality ... |
ORPHA:2968 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Camptodactyly of finger, Thenar muscle atrophy, Splenomegaly,... |
OMIM:607015 |
Wiedemann-Rautenstrauch Syndrome |
|
Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level |
OMIM:264090 |
Yellow Nail Syndrome |
|
Sinusitis, Dyspnea, Bronchiectasis, Hypoplasia of lymphatic vessels, Rhinitis, Cough, Pulmonary a... |
ORPHA:662 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Pulmonary arterial hypertension, Delayed pubert... |
ORPHA:77259 |
Neuroblastoma, Susceptibility To, 1 |
|
Hypertension |
OMIM:256700 |
Aa Amyloidosis |
|
Hypothyroidism, Hypotension, Adrenal insufficiency |
ORPHA:85445 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Dyspnea, Patent ductus arteriosus, Congenital contracture, Atrial septal defect, Pulmonary arteri... |
ORPHA:261279 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocarditis, Splenomegaly, Dys... |
ORPHA:809 |
Braddock Syndrome |
|
Pulmonary arterial hypertension, Neonatal respiratory distress, Congenital muscular torticollis |
ORPHA:52047 |
Blau Syndrome |
|
Hypertension, Pericarditis, Cystoid macular edema, Joint swelling |
OMIM:186580 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valv... |
OMIM:616564 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... |
OMIM:614947 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypertension, Delayed puberty |
ORPHA:251004 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly |
ORPHA:391428 |
Coach Syndrome 1 |
|
Splenomegaly, Hypertension, Portal hypertension, Hepatomegaly |
OMIM:216360 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insufficiency, Orthos... |
ORPHA:199299 |
Cranioectodermal Dysplasia 2 |
|
Hypertension, Hydrops fetalis, Polyhydramnios |
OMIM:613610 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension, Hypothyroidism |
ORPHA:98808 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagnesemia, Arrhythmi... |
ORPHA:428 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Elevated circulating 2-hydroxybutyric acid concentration, Respiratory ... |
OMIM:605711 |
Methylcobalamin Deficiency Type Cble |
|
Hypertension |
ORPHA:2169 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Stroke-like episode, Cardiomyopathy, Impotence, Orthostatic hypotension due to auto... |
OMIM:105210 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Hy... |
ORPHA:247353 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Epistaxis, Hyperlipidemia, Irregular menstruation, Thyroiditi... |
ORPHA:79259 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... |
ORPHA:740 |
Williams Syndrome |
|
Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:904 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism |
OMIM:602522 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Hypertension |
OMIM:301050 |
Schneckenbecken Dysplasia |
|
Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:269250 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Spider hemangioma, Portal hypertension, Congestive heart failure, Splenomegaly, Dil... |
ORPHA:171 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Greenberg Dysplasia |
|
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... |
OMIM:215140 |
46,Xx Sex Reversal 2 |
|
Azoospermia, Decreased serum testosterone concentration |
OMIM:278850 |
Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Cardiomegaly, Hepatosplenomegaly, Hyd... |
ORPHA:79330 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart |
ORPHA:2001 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Tricuspid stenosis, Heart murmur, Adrenocorticotropic hormone excess, Palpitations,... |
ORPHA:100079 |
Hurler Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Angina pectoris, Camptodactyly of finger, Splenome... |
ORPHA:93473 |
Fibrochondrogenesis 1 |
|
Hydrops fetalis |
OMIM:228520 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Increased urinary cortisol level, Hyperparathyroidism, Pituitary nul... |
ORPHA:913 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Congestive heart failure, Recurrent pneumonia, Flexion contracture |
OMIM:616271 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardial effusion, Thyroid lymphangi... |
OMIM:235510 |
Porphyria Variegata |
|
Inappropriate antidiuretic hormone secretion, Hypertension, Tachycardia |
ORPHA:79473 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Hydrops fetalis |
OMIM:263520 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Hyperhidrosis, Intracranial hemorrhage, Cough, Internal hemorrhage, Elevate... |
ORPHA:340 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Hypotension, Arrhythmia, Pancreatitis |
ORPHA:188 |
Listeriosis |
|
Respiratory distress, Pericarditis, Pneumonia, Myocarditis, Congestive heart failure, Rhabdomyoly... |
ORPHA:533 |
Yunis-Varon Syndrome |
|
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Renovascular hypertension, Hypert... |
ORPHA:3472 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis |
OMIM:217085 |
Oligomeganephronia |
|
Hypertension, Premature birth, Dehydration |
ORPHA:2260 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Neonatal respiratory distress, Mitral atresia, Patent ductus arteriosus, Double outlet right vent... |
OMIM:618164 |
Fg Syndrome Type 1 |
|
Progressive flexion contractures, Cryptorchidism, Mitral valve prolapse, Coarctation of aorta, Sm... |
ORPHA:93932 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Tachycardia |
OMIM:223900 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure |
ORPHA:508542 |
Testicular Agenesis |
|
Vanishing testis, Decreased serum testosterone concentration, Increased circulating gonadotropin ... |
ORPHA:325124 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Hypoplasia of the mu... |
ORPHA:2912 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Cryptorchidism, Pate... |
OMIM:605275 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... |
ORPHA:580 |
Autoimmune Lymphoproliferative Syndrome |
|
Vasculitis, Thyroiditis, Hydrops fetalis, Thyroid carcinoma, Thyroid adenoma |
ORPHA:3261 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Hypotension |
OMIM:174000 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Decreased muscle mass, Hyperlipidemia, Hypertension, Hyperuricemia, Delayed puberty... |
OMIM:232200 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Hypothyroidism, Hypotension |
ORPHA:93256 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Acute respiratory distress syndrome, Portal hypertension, Patent foramen ovale, Cryptorchidism, P... |
OMIM:620005 |
Congenital Myopathy 22B, Severe Fetal |
|
Decreased fetal movement, Nonimmune hydrops fetalis, Polyhydramnios, Breech presentation, Pleural... |
OMIM:620369 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone... |
ORPHA:97283 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... |
ORPHA:542323 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Dilate... |
OMIM:619573 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... |
ORPHA:217085 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormal vena cava morpholog... |
ORPHA:163956 |
Acrocardiofacial Syndrome |
|
Hyperthyroidism, Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Cryptorchid... |
ORPHA:2008 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension, Premature birth, Oligohydramnios |
OMIM:616914 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... |
OMIM:613470 |
Ppoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated circulating growth hormone concentration, Abn... |
ORPHA:97278 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Camptodactyly of finger, Congestive heart failure, Retinal hemorrhage... |
ORPHA:464 |
Von Hippel-Lindau Syndrome |
|
Hypertension, Pheochromocytoma, Paraganglioma |
OMIM:193300 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Asthma, Hypertension, Hypogonadism, Left ventr... |
OMIM:209900 |
Wagro Syndrome |
|
Hypertension |
OMIM:612469 |
Methemoglobinemia And Ambiguous Genitalia |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz... |
OMIM:250790 |
Xfe Progeroid Syndrome |
|
Hypertension, Ascites |
OMIM:610965 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... |
ORPHA:217093 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
3Q29 Microdeletion Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Subvalvular aortic stenosis |
ORPHA:65286 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Bronchiecta... |
ORPHA:90348 |
Galloway-Mowat Syndrome 3 |
|
Hypertension, Edema, Oligohydramnios |
OMIM:617729 |
Spondyloenchondrodysplasia |
|
Decreased response to growth hormone stimulation test, Raynaud phenomenon, Vasculitis, Hypertensi... |
ORPHA:1855 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Respiratory distress, Conjugated hyperbilirubinemia, Congestive heart failure, ... |
OMIM:617156 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Pneumonia, Pericardial effusion, Increased circulating ferritin concentration, Hema... |
OMIM:615846 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal de... |
OMIM:616449 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Epistaxis, Hypotension |
ORPHA:99828 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Cryptorchidism, Congestive heart failure |
ORPHA:2505 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased serum iron, Myocardial infarction, Pulmonary embolism, Dyspnea, Hypertension, Impotence... |
ORPHA:447 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hypertension |
OMIM:235400 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Hepatomegaly, Abnormality of the menstrual cycle, Abnormality of the ... |
ORPHA:3385 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate... |
OMIM:270100 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Hyperhidrosis, Hypothyroidism |
ORPHA:349 |
Grfoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated circulating growth hormone concentration, Neo... |
ORPHA:97261 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Ascites, Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:617667 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Small intestine carcinoid, Pal... |
ORPHA:100078 |
Scalp-Ear-Nipple Syndrome |
|
Type I diabetes mellitus, Hypertension, Palpebral edema |
ORPHA:2036 |
Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hydrops fetalis |
OMIM:224120 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Patent ductus arter... |
OMIM:619351 |
Vipoma |
|
Hepatomegaly, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating growth hormon... |
ORPHA:97282 |
Familial Dysautonomia |
|
Hypertension, Orthostatic hypotension, Tachycardia |
ORPHA:1764 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Splenomegaly, Flexion contracture, Cardiomyopat... |
OMIM:253200 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Diabetes mellitus, Hypotension, Increased circulating procalcitonin concentration |
ORPHA:36238 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... |
ORPHA:2396 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Patent ductus arteriosus, Hydrocele testis,... |
ORPHA:280633 |
Glycogen Storage Disease Ic |
|
Hypertension, Pulmonary arterial hypertension, Spider hemangioma, Delayed puberty |
OMIM:232240 |
Hardikar Syndrome |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Portal hyp... |
OMIM:301068 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Bone-marrow foam cells, Precocious ath... |
ORPHA:275761 |
Hennekam Syndrome |
|
Lymphedema, Pericardial effusion, Hydrops fetalis, Chylothorax, Ascites |
ORPHA:2136 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Hyperkalemia,... |
ORPHA:90790 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hypotension, Erect... |
ORPHA:3452 |
Scrub Typhus |
|
Myocarditis, Hypotension, Hyperhidrosis |
ORPHA:83317 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Nonimmune hydrops fetalis |
OMIM:266200 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Bilateral fetal pyelectasis, Polyhydramnios, Breech presentation, Hydrops fetalis, Fetal distress |
OMIM:300868 |
Cantú Syndrome |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Acute Intermittent Porphyria |
|
Hyponatremia, Proximal muscle weakness in upper limbs, Tachycardia, Respiratory insufficiency, Hy... |
ORPHA:79276 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Coarctation of aorta, Sm... |
OMIM:105650 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal respiratory distress, Neonatal insulin-dependent diabetes mellitus, Ventri... |
ORPHA:96191 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:79443 |
Scalp-Ear-Nipple Syndrome |
|
Cardiac myxoma, Congestive heart failure, Hypohidrosis, Hypertension, Supraventricular tachycardia |
OMIM:181270 |
Papillorenal Syndrome |
|
Hypertension, Edema |
OMIM:120330 |
Alexander Disease |
|
Diabetes mellitus, Sudden cardiac death, Precocious puberty, Hypertension, Hypotension, Hypothyro... |
ORPHA:58 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Cerebral artery stenosis, Rhabdomyosarcoma, Precocious puberty, Abnor... |
ORPHA:97685 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Stroke, Abnormal cerebral vascular morphology, Pulmonary embolism |
ORPHA:3205 |
Ogden Syndrome |
|
Bicuspid aortic valve, Apnea, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Ven... |
OMIM:300855 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Hyp... |
OMIM:611962 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Splenomegaly, Hypertension, Delayed puberty, Enlarged kidney |
OMIM:232220 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Decreased fetal movement, Hydrops fetalis |
OMIM:265000 |
Alport Syndrome 3A, Autosomal Dominant |
|
Hypertension |
OMIM:104200 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Genera... |
OMIM:139210 |
Pearson Marrow-Pancreas Syndrome |
|
Type I diabetes mellitus, Hydrops fetalis, Dehydration |
OMIM:557000 |
Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... |
ORPHA:314769 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arterio... |
OMIM:618454 |
Myhre Syndrome |
|
Precocious puberty, Cryptorchidism, Skeletal muscle hypertrophy, Hypertension, Abnormal cardiac s... |
ORPHA:2588 |
Keutel Syndrome |
|
Sinusitis, Ventricular septal defect, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosi... |
OMIM:245150 |
Blomstrand Lethal Chondrodysplasia |
|
Premature birth, Hydrops fetalis, Polyhydramnios |
ORPHA:50945 |
Pagod Syndrome |
|
Sudden cardiac death, Congenital diaphragmatic hernia, Situs inversus totalis, Pulmonary artery h... |
ORPHA:991 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, P... |
OMIM:182250 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension |
ORPHA:1555 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Apnea, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arterio... |
OMIM:602535 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
Pde4D Haploinsufficiency Syndrome |
|
Cryptorchidism, Elevated circulating parathyroid hormone level, Hypotension |
ORPHA:439822 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone... |
ORPHA:97280 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Cryptorchidism, Decreased serum testosterone concentration |
ORPHA:495875 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Diabetes mellitus, Pneumonia, Myocarditis, Dyspnea, Hyperkalemia, Hypertension, Ple... |
ORPHA:544482 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Alport Syndrome |
|
Dyspnea, Renal glomerular foam cells, Stridor, Hypertension, Abnormal aortic morphology, Cough, A... |
ORPHA:63 |
Senior-Boichis Syndrome |
|
Hypertension, Ascites, Portal hypertension |
ORPHA:84081 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Car... |
ORPHA:805 |
Hereditary Elliptocytosis |
|
Hydrops fetalis |
ORPHA:288 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Parathyr... |
ORPHA:653 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrops fetalis, Polyhydramnios |
OMIM:616546 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Apnea, Abnormal pulmonary valve morphology, Splenomegaly, Pulmonary artery stenosis... |
ORPHA:667 |
Blau Syndrome |
|
Pericarditis, Facial palsy, Camptodactyly of finger, Splenomegaly, Dyspnea, Xerostomia, Large ves... |
ORPHA:90340 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Foot joint contracture, Cryptorchidism, Hypohidrosis, Hypertension, Increased blood... |
ORPHA:90321 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Recurrent pneumonia, Left superior vena cava draining to coronary sinu... |
ORPHA:464738 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Abnormal dense granu... |
OMIM:214500 |
Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m... |
ORPHA:355 |
Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... |
ORPHA:963 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... |
OMIM:201810 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... |
OMIM:234700 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Apnea, Rhabdomyosarcoma, Coarctation of aorta, Abnormal aortic morphology, ... |
ORPHA:1052 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypertension, Myocardial infarction, Dehydration |
ORPHA:90038 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Hypertension, Hypokalemia, Hypocalcemia, Renal artery ste... |
OMIM:617913 |
Aicardi-Goutières Syndrome |
|
Myositis, Diabetes mellitus, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Calci... |
ORPHA:51 |
Hallermann-Streiff Syndrome |
|
Cryptorchidism, Congestive heart failure, Respiratory insufficiency, Tracheomalacia, Hypothyroidism |
ORPHA:2108 |
Legionnaires Disease |
|
Pericarditis, Myocarditis, Hypotension, Arrhythmia, Pancreatitis |
ORPHA:549 |
Au-Kline Syndrome |
|
Thickened nuchal skin fold, Breech presentation, Fetal pericardial effusion, Hypertension, Single... |
OMIM:616580 |
Mycophenolate Mofetil Embryopathy |
|
Hydrops fetalis |
ORPHA:268249 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Congestive h... |
OMIM:619475 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Ab... |
ORPHA:2463 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Respira... |
ORPHA:221 |
Alström Syndrome |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating... |
ORPHA:64 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Hypotension |
ORPHA:91547 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension |
ORPHA:159 |
Pierson Syndrome |
|
Hypertension, Retinal hemorrhage, Edema, Oligohydramnios |
OMIM:609049 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... |
OMIM:618935 |
Meningococcal Meningitis |
|
Shock, Hypotension |
ORPHA:33475 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Prim... |
OMIM:619534 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Tachypnea, Aortic valve atresia, Hyperammonemia, Coarctati... |
OMIM:220111 |
Carey-Fineman-Ziter Syndrome |
|
Hypertensive crisis |
ORPHA:1358 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... |
ORPHA:42775 |
Apert Syndrome |
|
Hypertension |
ORPHA:87 |
Necrotizing Enterocolitis |
|
Shock, Bradycardia, Hypotension |
ORPHA:391673 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Res... |
OMIM:225400 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... |
OMIM:208150 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic valve calcification, Splenom... |
ORPHA:2072 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Tachypnea, Respiratory insufficiency, Hepato... |
OMIM:618278 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension |
ORPHA:79456 |
Aggressive Systemic Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage, Portal hypertension |
ORPHA:98850 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Abnormal left ventricular function, Hypocalcemia, Elevated hepatic iron concentrati... |
OMIM:619991 |
22Q11.2 Deletion Syndrome |
|
Abnormal aortic arch morphology, Hypoplasia of the thymus, Hypocalcemia, Atrial septal defect, Hy... |
ORPHA:567 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Denys-Drash Syndrome |
|
Hypertension |
OMIM:194080 |
Familial Osteodysplasia, Anderson Type |
|
Hypertension |
ORPHA:2769 |
Phocomelia, Schinzel Type |
|
Hydrops fetalis |
ORPHA:2879 |
Hallermann-Streiff Syndrome |
|
Hypertension, Pulmonary arterial hypertension, Telangiectasia |
OMIM:234100 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension |
OMIM:123790 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Spontaneous pneumothorax, Pulmonary arteriovenous ... |
OMIM:606721 |
Holoprosencephaly |
|
Hyponatremia, Diabetes mellitus, Ventricular septal defect, Abnormal pulmonary valve morphology, ... |
ORPHA:2162 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Adrenocor... |
OMIM:130650 |
Osteogenesis Imperfecta, Type Iii |
|
Pulmonary arterial hypertension |
OMIM:259420 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Aplasia of the thymus, Facial palsy, Patent foramen ovale, Congenital hypothyroidism, Hydrocele t... |
OMIM:620186 |
Fryns Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal aortic arch morphology, Abnormal cardia... |
ORPHA:2059 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Dyspnea, Bronchiectasis, Hypoxemia, Restrictive... |
OMIM:181000 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... |
OMIM:245600 |
Renal Dysplasia |
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Hypertension, Oligohydramnios |
ORPHA:93108 |
Stuve-Wiedemann Syndrome 1 |
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Apnea, Pulmonary arterial medial hypertrophy, Elbow flexion contracture, Respiratory insufficienc... |
OMIM:601559 |
Acute Transverse Myelitis |
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Orthostatic hypotension, Decreased circulating copper concentration, Subarachnoid hemorrhage, Upp... |
ORPHA:139417 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
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Prolonged QT interval, Flexion contracture, Stridor, Camptodactyly, Pulmonary arterial hypertension |
OMIM:620029 |
Cockayne Syndrome A |
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Anhidrosis, Hepatomegaly, Hip contracture, Cryptorchidism, Splenomegaly, Irregular menstruation, ... |
OMIM:216400 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Thrombocytopenia, Splenomegaly, Vacuolate... |
ORPHA:167 |
Fontaine Progeroid Syndrome |
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Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve... |
OMIM:612289 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
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Ventricular septal defect, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Coa... |
OMIM:600460 |
Smith-Lemli-Opitz Syndrome |
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Hepatomegaly, Ventricular septal defect, Precocious puberty, Cryptorchidism, Patent ductus arteri... |
OMIM:270400 |
Schwartz-Jampel Syndrome |
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Hip contracture, Skeletal muscle atrophy, Apnea, Elevated circulating creatine kinase concentrati... |
ORPHA:800 |
Acute Radiation Syndrome |
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Hypotension, Telangiectasia |
ORPHA:454831 |
Degcags Syndrome |
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Hepatomegaly, Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Pneumonia, Trach... |
OMIM:619488 |
Fucosidosis |
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Hepatomegaly, Anhidrosis, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Cherry r... |
OMIM:230000 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Cryptorchidism, Muscula... |
OMIM:210710 |
Neurofibromatosis, Type I |
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Parathyroid adenoma, Hypertension, Pheochromocytoma |
OMIM:162200 |
Williams-Beuren Syndrome |
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Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Hypercalcemia, Portal hypert... |
OMIM:194050 |
Cockayne Syndrome |
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Anhidrosis, Hepatomegaly, Diabetes mellitus, Skeletal muscle atrophy, Cryptorchidism, Splenomegal... |
ORPHA:191 |
Fanconi Anemia |
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Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Patent ductus arteriosus, Azoospe... |
ORPHA:84 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... |
OMIM:143095 |
Fibrous Dysplasia Of Bone |
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Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
Niemann-Pick Disease Type C |
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Ascites, Hydrops fetalis, Fetal ascites |
ORPHA:646 |
Orofaciodigital Syndrome I |
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Hypertension, Vascular dilatation, Abnormal heart morphology |
OMIM:311200 |
Lujo Hemorrhagic Fever |
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Shock, Myocarditis, Hyperhidrosis, Subconjunctival hemorrhage, Bradycardia, Hypotension |
ORPHA:319213 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
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Secundum atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspi... |
OMIM:613355 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Hypotension, Hyperhidrosis |
OMIM:608643 |
Tetrasomy 9P |
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Pericarditis, Juxtaductal coarctation of the aorta, Myositis, Dextrocardia, Raynaud phenomenon, C... |
ORPHA:3310 |
Ctcf-Related Neurodevelopmental Disorder |
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Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Joint contr... |
ORPHA:363611 |
Pmm2-Cdg |
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Pericarditis, Angina pectoris, Intracranial hemorrhage, Impaired neutrophil chemotaxis, Hypertrop... |
ORPHA:79318 |
Mucopolysaccharidosis Type 3 |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Upper airw... |
ORPHA:581 |
Developmental And Epileptic Encephalopathy 95 |
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Hepatomegaly, Multiple joint contractures, Cardiomegaly, Cryptorchidism, Macroglossia, Arthrogryp... |
OMIM:618143 |
Proteus Syndrome |
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Thymus hyperplasia, Decreased muscle mass, Testicular neoplasm, Sudden cardiac death, Neoplasm of... |
ORPHA:744 |
Bohring-Opitz Syndrome |
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Apnea, Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contractur... |
ORPHA:97297 |
Systemic Lupus Erythematosus |
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Raynaud phenomenon, Hypertension |
ORPHA:536 |
Spinocerebellar Ataxia Type 7 |
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Congestive heart failure |
ORPHA:94147 |
Bacterial Toxic-Shock Syndrome |
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Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension |
ORPHA:36234 |
Hepatoerythropoietic Porphyria |
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Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema |
ORPHA:95159 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
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Hypoxemia, Cryptorchidism, Patent ductus arteriosus, Pulmonary arterial hypertension |
ORPHA:2282 |
Hennekam-Beemer Syndrome |
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Arrhythmia, Telangiectasia of the skin, Hypotension |
ORPHA:2135 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
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Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Hypoplastic left heart, Tetralog... |
OMIM:618748 |
15Q Overgrowth Syndrome |
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Tricuspid regurgitation, Contracture of the proximal interphalangeal joint of the 2nd finger, Mit... |
ORPHA:314585 |
Congenital Disorder Of Glycosylation, Type Iim |
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Hypertension, Oligohydramnios |
OMIM:300896 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Acute pancreatitis, Dilated cardiomyopathy, Cardiac arrest, Hypotension |
ORPHA:20 |
Autosomal Recessive Polycystic Kidney Disease |
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Gastrointestinal hemorrhage, Portal hypertension, Hypertension, Ascites, Oligohydramnios |
ORPHA:731 |
Cholera |
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Hypovolemic shock, Tachycardia, Hypotension |
ORPHA:173 |
2Q37 Microdeletion Syndrome |
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Tracheomalacia, Abnormal aortic morphology, Congenital diaphragmatic hernia |
ORPHA:1001 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis r... |
ORPHA:96334 |
Igg4-Related Kidney Disease |
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Pericarditis, Elevated circulating C-reactive protein concentration, Abnormality of the anterior ... |
ORPHA:449395 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Elevated circulating alpha-fetoprotein ... |
ORPHA:116 |
Sepsis In Premature Infants |
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Tachycardia, Bradycardia, Hypotension |
ORPHA:90051 |
Arima Syndrome |
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Hypertension |
OMIM:243910 |
Cockayne Syndrome B |
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Splenomegaly, Hypertension, Arrhythmia, Hepatomegaly |
OMIM:133540 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Hypertension, Edema |
OMIM:266920 |
Yunis-Varon Syndrome |
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Premature birth, Polyhydramnios, Hydrops fetalis, Heart murmur, Cardiomyopathy, Pulmonary arteria... |
OMIM:216340 |
Congenital Erythropoietic Porphyria |
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Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema |
ORPHA:79277 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Tachycardia, Syncope, Hypotension |
ORPHA:98849 |
Melnick-Needles Syndrome |
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Pulmonary arterial hypertension, Tricuspid valve prolapse, Mitral valve prolapse |
OMIM:309350 |
Hellp Syndrome |
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Cerebral hemorrhage, Internal hemorrhage, Hypotension |
ORPHA:244242 |
Juvenile Polyposis Syndrome |
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Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... |
ORPHA:2929 |
Autosomal Recessive Robinow Syndrome |
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Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of finger, Cryptorc... |
ORPHA:1507 |
Exercise-Induced Malignant Hyperthermia |
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Prolonged QT interval, Anhidrosis, ST segment depression, Hypotension, Abnormal T-wave, Abnormal ... |
ORPHA:466650 |
Neurofibromatosis Type 1 |
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Abnormality of the endocrine system, Precocious puberty, Hypertension, Pheochromocytoma, Delayed ... |
ORPHA:636 |
Diamond-Blackfan Anemia |
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Nonimmune hydrops fetalis |
ORPHA:124 |
Osteopetrosis With Renal Tubular Acidosis |
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Hepatomegaly, Elevated circulating creatine kinase concentration, Hypocalcemia, Secondary hyperpa... |
ORPHA:2785 |
Orofaciodigital Syndrome Type 1 |
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Hypertension |
ORPHA:2750 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233710 |
Cog1-Cdg |
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Pulmonary arterial hypertension, Atrial septal dilatation, Hepatosplenomegaly |
ORPHA:263508 |
Marburg Hemorrhagic Fever |
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Shock, Tachycardia, Pericarditis, Orchitis, Pancreatitis, Hypovolemia, Capillary leak, Subconjunc... |
ORPHA:99826 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233690 |
Hereditary Angioedema Type 1 |
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Hypotension |
ORPHA:100050 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Hypertension, Hydromyelia, Corneal neovascularization, Oligohydramnios |
OMIM:308205 |
Granulomatous Disease, Chronic, X-Linked |
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Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, Rectal abscess |
OMIM:306400 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Hydrops fetalis |
ORPHA:93271 |
Leptospirosis |
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Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... |
ORPHA:509 |
Acute Liver Failure |
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Shock, Gastrointestinal hemorrhage, Intracranial hemorrhage, Adrenal insufficiency, Hypotension |
ORPHA:90062 |
Plague |
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Hematemesis, Tachycardia, Arrhythmia, Hypotension |
ORPHA:707 |