Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Pulmonary edema, Edema |
OMIM:178400 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary arterial hypertension, Elevated jugular venous pressure, Interlobular septal thickening... |
OMIM:265450 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation, Intestinal bleeding |
OMIM:600195 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Pulmonary arterial hypertension, Dyspnea, Arterial intimal fibros... |
OMIM:178600 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Abnormal cerebral vascular morphology, Pulmonary arterial hypertension, Lymphedema |
OMIM:152900 |
Idiopathic Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Dyspnea, Abnormal jugular vein morphology, Syncope, Palpitations... |
ORPHA:275766 |
Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Recurrent respiratory infections, Stroke, Dyspnea, Mitral regurgit... |
ORPHA:75249 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Co... |
OMIM:234810 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Atrial septal defect, Facial ede... |
OMIM:617300 |
Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Dyspnea, Edema, Atelectasis, Respiratory distress, Pulmonary edema... |
OMIM:267450 |
Bronchopulmonary Dysplasia |
|
Dyspnea, Abnormal respiratory system physiology, Atelectasis, Right ventricular failure, Cough, P... |
ORPHA:70589 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Cardiomyocyte hypertrophy, Apical hypertrophic cardiomyopathy, L... |
OMIM:613255 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Stroke, Reduced left ventricular ejection fraction, Hepatomegaly, Ventricular hyp... |
OMIM:115197 |
Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism, Peripheral arterial stenosis |
OMIM:134400 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Ventricular septal defect, Bacterial endocarditis, Perimembranous... |
ORPHA:99095 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Ventricular septal defect, Atrial septal defect, Left ventri... |
ORPHA:860 |
Pulmonary Hypertension, Primary, 5 |
|
Pulmonary arterial hypertension, Syncope, Right ventricular hypertrophy, Angina pectoris, Right v... |
OMIM:265400 |
Familial Dilated Cardiomyopathy |
|
Dyspnea, Mitral regurgitation, Left ventricular systolic dysfunction, Reduced left ventricular ej... |
ORPHA:217607 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... |
OMIM:615396 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary capillary hemangiomatosis, Dyspnea, Diffuse alveolar hemorrhage, Decreased DLCO, Interl... |
ORPHA:199241 |
Total Anomalous Pulmonary Venous Return 1 |
|
Total anomalous pulmonary venous return, Recurrent respiratory infections, Pulmonary arterial hyp... |
OMIM:106700 |
Absence Of The Pulmonary Artery |
|
Reduced left ventricular ejection fraction, Atrial septal defect, Tetralogy of Fallot, Right aort... |
ORPHA:980 |
Heparin-Induced Thrombocytopenia |
|
Myocardial infarction, Stroke, Pulmonary embolism, Cerebral ischemia |
ORPHA:3325 |
Coronary Arterial Fistula |
|
Atrial septal defect, Bacterial endocarditis, Abnormal heart morphology, Angina pectoris, Patent ... |
ORPHA:2041 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... |
OMIM:618052 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Abnormal pulmonary interstitial m... |
ORPHA:217563 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Dyspnea, Syncope, Palpitations, Elevated jugular venous pressure... |
ORPHA:422 |
Truncus Arteriosus |
|
Right aortic arch, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Abnormal... |
ORPHA:3384 |
Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Hypotension, Atelectasis, Hypoxemia, Respiratory tract infection, Pulmonary edema... |
ORPHA:70587 |
Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... |
ORPHA:57777 |
Adult Acute Respiratory Distress Syndrome |
|
Vasculitis, Dyspnea, Hypotension, Hypoxemia, Abnormal blood gas level, Pulmonary edema, Pneumonia... |
ORPHA:70578 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Reduced left ventricular ejection fraction, Hepatomegaly, Atrial septal dilatation, Tricuspid reg... |
ORPHA:1677 |
Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Cough, Usual i... |
OMIM:178500 |
Renal Glucosuria |
|
Polyphagia, Enuresis nocturna, Glycosuria, Polydipsia, Polyuria |
OMIM:233100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Restrictive ventilatory defect, Type 1 muscle fiber predominance, Muscula... |
OMIM:253700 |
Atrial Septal Defect, Sinus Venosus Type |
|
Stroke, Paradoxical splitting of the second heart sound, Tricuspid regurgitation, Supraventricula... |
ORPHA:99105 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Chronic pulmonary obstruction, Cough, Hydrops... |
ORPHA:2414 |
Scimitar Syndrome |
|
Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Lef... |
ORPHA:185 |
Aorta Coarctation |
|
Stroke, Pulmonary arterial hypertension, Hypoplastic left heart, Coarctation of the descending ao... |
ORPHA:1457 |
Antithrombin Iii Deficiency |
|
Arterial occlusion, Pulmonary embolism |
OMIM:613118 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Pollakisuria, Weight loss |
ORPHA:95626 |
Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Pulmonary venous hypertension, Hepatomegaly, Complete atrioventricular c... |
ORPHA:1329 |
Glycogen Storage Disease 0, Muscle |
|
Stroke, Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle g... |
OMIM:611556 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Edema of the dorsum of hands, Venous insufficiency, Genital edema, Facial edema, Abnormal lymphat... |
ORPHA:568051 |
Peripartum Cardiomyopathy |
|
Myocarditis, Reduced left ventricular ejection fraction, Paroxysmal dyspnea, Respiratory failure,... |
ORPHA:563 |
Congenital Tricuspid Valve Dysplasia |
|
Tachypnea, Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve pr... |
ORPHA:555874 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Varicose veins, Sinus bradycardia, Patent ductus arteriosus, Pedal ede... |
OMIM:126320 |
Cardiomyopathy, Dilated, 2C |
|
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced left ventricular ejection fraction |
OMIM:618189 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Abnormal pulmonary interstitial morphology, Arrhythmia, Hepatomegaly, Myocardial in... |
ORPHA:330001 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Enlarged kidney, Anasarca, Cardiomyopathy, Hypertrophic cardiomyopathy, Br... |
OMIM:261740 |
Pleural Mesothelioma |
|
Dyspnea, Abnormal respiratory system physiology, Cough, Abnormal pleura morphology, Hepatomegaly,... |
ORPHA:50251 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Angina pectoris, Bradycardia, Atrial fibrillation, Dyspnea, Mitral regurg... |
ORPHA:66529 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Hypoplasia of right ventricle, Coarctation of aorta, Ventricular septal... |
ORPHA:1209 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Hypotension, Cough, Arrhythmia, Cardiorespiratory arrest, Pulmonary edema, Rhinorrhe... |
ORPHA:188 |
Fixed Subaortic Stenosis |
|
Ventricular septal defect, Bacterial endocarditis, Left ventricular outflow tract obstruction, At... |
ORPHA:3092 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Pulmonary Hypertension, Primary, 3 |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Dyspnea, Increased pulmonary... |
OMIM:615343 |
Classic Multiminicore Myopathy |
|
Intermittent episodes of respiratory insufficiency due to muscle weakness, Absent muscle fiber me... |
ORPHA:324604 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Hypoplastic left heart, Right aor... |
ORPHA:99050 |
Hughes-Stovin Syndrome |
|
Pulmonary arterial hypertension, Dyspnea, Vasculitis, Cough, Pulmonary embolism, Cardiorespirator... |
ORPHA:228116 |
Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, First degree atrioventricular block, Elevated pulmonary artery p... |
OMIM:615344 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, Left ventricular systolic dysfunction, EMG: myopathic abnormalities, Right ventricu... |
ORPHA:353 |
Atrial Septal Defect, Coronary Sinus Type |
|
Stroke, Transient ischemic attack, Supraventricular arrhythmia, Bundle branch block, Exertional d... |
ORPHA:99104 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Hypoxemia, Hepatomegaly... |
OMIM:612387 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormal cerebral vascular morphology, Venous insufficiency, Pulmonary embolism |
ORPHA:745 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Venous insufficiency, Edema, Atrial septal defect, Respiratory ... |
ORPHA:90308 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Capillary leak, Pulmonary edema, Hypovolemia, Pleural effusion, Peripheral ede... |
ORPHA:64739 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea, Absent bronchoalveolar d... |
OMIM:265120 |
Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
Atrial Septal Defect, Ostium Secundum Type |
|
Stroke, Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Sup... |
ORPHA:99103 |
Atrial Septal Defect, Ostium Primum Type |
|
Tricuspid regurgitation, Atrial fibrillation, Exertional dyspnea, Pulmonary artery dilatation, Re... |
ORPHA:99106 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Tetralogy of Fallot, Atrial septal defect, Abnormal heart morphology, ... |
OMIM:614954 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Heart block, Arrhythmia, Hypoxemia, Capi... |
ORPHA:542323 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary artery dilatation, Pulmonary arterial hypertension, Atrial septal defect, Thoracic aort... |
OMIM:613834 |
Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... |
OMIM:613426 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Severely reduced left ventricular e... |
ORPHA:444013 |
Laubry-Pezzi Syndrome |
|
Dilatation of the sinus of Valsalva, Right ventricular outlet tract obstruction, Abnormal coronar... |
ORPHA:99094 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Dyspnea, Pulmonary hemorrhage, Bacterial endocarditis, Cough, Pa... |
ORPHA:2038 |
Takayasu Arteritis |
|
Pulmonary arterial hypertension, Vasculitis, Hypertension, Abnormal heart valve morphology, Ascen... |
ORPHA:3287 |
Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Cough, Bronchiectasis, Emphysema, Asthma |
ORPHA:1164 |
Von Willebrand Disease |
|
Venous insufficiency, Abnormal mitral valve morphology |
ORPHA:903 |
Renal Hypoplasia |
|
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... |
ORPHA:93101 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... |
OMIM:613485 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Pulmon... |
OMIM:619003 |
Senior-Loken Syndrome 4 |
|
Polydipsia, Polyuria, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:606996 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
Timothy Syndrome |
|
Bronchitis, Pulmonary arterial hypertension, Ventricular tachycardia, Ventricular septal defect, ... |
OMIM:601005 |
Nephronophthisis-Like Nephropathy 2 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Periglomerular fibrosis, Polydipsia, Polyuri... |
OMIM:619468 |
Cardiomyopathy, Dilated, 2D |
|
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Mitral regurgitation, Reduced lef... |
OMIM:619371 |
Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Recurrent respiratory infections, Pulmonary arterial hypertension, Dextro... |
OMIM:615067 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail... |
OMIM:610913 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... |
OMIM:604169 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia, Polyuria |
OMIM:222100 |
Yellow Nail Syndrome |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Dyspnea, Pleuritis, Cough, Neo... |
ORPHA:662 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Left bundle b... |
OMIM:601493 |
Mogs-Cdg |
|
Hepatosplenomegaly, Edema, Atrial septal defect, Left ventricular hypertrophy, Polyhydramnios, He... |
ORPHA:79330 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormal cerebral vascular morphology, Venous insufficiency, Pulmonary embolism |
ORPHA:743 |
Congenital Tracheomalacia |
|
Intercostal retractions, Right aortic arch, Ventricular septal defect, Atrial septal defect, Prod... |
ORPHA:95430 |
Thoracic Outlet Syndrome |
|
Edema, Varicose veins |
ORPHA:97330 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Lymphedema, Venous malformation, Varicose veins |
OMIM:613089 |
Familial Multiple Nevi Flammei |
|
Venous insufficiency, Edema, Arteriovenous malformation, Arrhythmia, Intracranial hemorrhage, Pul... |
ORPHA:624 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
Atrial Fibrillation, Familial, 6 |
|
Left atrial enlargement, Left ventricular hypertrophy, Reduced left ventricular ejection fraction... |
OMIM:612201 |
Cocaine Intoxication |
|
Prolonged QRS complex, Hyperventilation, Supraventricular arrhythmia, Pneumothorax, Myocardial in... |
ORPHA:90068 |
Loeffler Endocarditis |
|
Right bundle branch block, Mitral regurgitation, Left ventricular hypertrophy, Palpitations, Fati... |
ORPHA:75566 |
Erythrocytosis, Familial, 2 |
|
Stroke, Pulmonary arterial hypertension, Hypotension, Cerebral hemorrhage, Varicose veins |
OMIM:263400 |
Atrial Fibrillation, Familial, 10 |
|
Stroke, Paroxysmal atrial fibrillation, Left atrial enlargement, Left ventricular hypertrophy, Tr... |
OMIM:614022 |
Cardiomyopathy, Dilated, 1U |
|
Left ventricular hypertrophy, Syncope, Severely reduced left ventricular ejection fraction, First... |
OMIM:613694 |
Synaptic Congenital Myasthenic Syndromes |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Myopathy, Respiratory insufficien... |
ORPHA:98915 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Atr... |
OMIM:265380 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:607487 |
Craniofaciofrontodigital Syndrome |
|
Stroke, Ventricular septal defect, Atrial septal defect, Persistent fetal circulation, Pulmonary ... |
ORPHA:363705 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension, Tetralogy of Fallot, Atrial septal defect, Ventricular hypertrop... |
OMIM:300887 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Chronic sinusitis, Congenitally corrected transposition of the great arte... |
OMIM:618300 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Mucosal telangiectasiae, Pulmonary fibrosis, Foot joint contract... |
ORPHA:220402 |
Ochoa Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis, Urinary incontinence, Renal insufficiency, Po... |
ORPHA:2704 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Tetralogy of ... |
OMIM:108900 |
Histiocytoid Cardiomyopathy |
|
Right bundle branch block, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Ventricular s... |
ORPHA:137675 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Cardiomega... |
OMIM:105210 |
Milroy Disease |
|
Varicose veins, Lymphedema, Abnormal venous morphology, Predominantly lower limb lymphedema, Peda... |
ORPHA:79452 |
Meconium Aspiration Syndrome |
|
Abnormal heart rate variability, Pulmonary arterial hypertension, Aspiration pneumonia, Atelectas... |
ORPHA:70588 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... |
OMIM:256100 |
Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Right ventricular hypertrophy, Right atrial e... |
OMIM:616028 |
Central Diabetes Insipidus |
|
Nocturia, Polydipsia, Weight loss, Failure to thrive |
ORPHA:178029 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Ventricular septal defect, Respirator... |
OMIM:617021 |
Thymic Carcinoma |
|
Dyspnea, Edema, Cough, Abnormal vena cava morphology, Palpebral edema |
ORPHA:99868 |
Meckel Syndrome, Type 7 |
|
Situs inversus totalis, Hepatosplenomegaly, Atrial septal defect, Right ventricular hypertrophy, ... |
OMIM:267010 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Polyhydramnios, Type 1 muscle fiber predominance, Right ventricular hypertrophy, Apnea, Increased... |
OMIM:612949 |
Nephronophthisis 3 |
|
Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Renal corti... |
OMIM:604387 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Hypocitraturia, Nephrocalcinosis, Chronic kidney disease, Ren... |
OMIM:248250 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Proximal muscle weakness in lower limbs, Reduced left ventricular ejection fraction... |
ORPHA:268 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Dyspnea, Reduced left ventricular ejectio... |
OMIM:613838 |
Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Venous malformation, Edema, Telangiectasia of the skin |
ORPHA:75508 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Atrial fibrillation, Reduced left ventricular ejection fraction, Hy... |
OMIM:613876 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... |
OMIM:612158 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Pulmonary arterial hypertension, Camptodactyly, Congestive heart failure |
OMIM:619751 |
Atrial Standstill |
|
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... |
ORPHA:1344 |
Cardiomyopathy, Dilated, 1Kk |
|
Mitral regurgitation, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Congestive heart... |
OMIM:615248 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophth... |
OMIM:606966 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:30925 |
Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Stroke, Pulmonary arterial hypertension, Retinal arterial occlusion, Abnormal jugula... |
ORPHA:464343 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left at... |
OMIM:608751 |
Pulmonary Hypertension, Primary, 2 |
|
Abnormally loud pulmonic component of the second heart sound, Pulmonary arterial hypertension, In... |
OMIM:615342 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Arrhythmia, Hypertension, Pulmonary embolism, Abnormal heart valve morphology, Congestive heart f... |
ORPHA:1345 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Pulmonary arterial hypertension, Congestive heart failure |
OMIM:616045 |
Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Right ventricular hypertrophy, Tachycardia, Internal hemorrhage |
ORPHA:335 |
Antisynthetase Syndrome |
|
Myocarditis, Recurrent respiratory infections, Pulmonary arterial hypertension, Edema, Respirator... |
ORPHA:81 |
Hellp Syndrome |
|
Hypotension, Cerebral hemorrhage, Pulmonary edema, Internal hemorrhage, Pleural effusion, General... |
ORPHA:244242 |
Keutel Syndrome |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Ventricular septal defect, Pul... |
ORPHA:85202 |
Meige Disease |
|
Edema of the dorsum of hands, Periorbital edema, Facial edema, Laryngeal edema, Varicose veins, L... |
ORPHA:90186 |
Ethylene Glycol Poisoning |
|
Tachypnea, Hypotension, Tachycardia, Hypertension, Cerebral edema, Facial palsy, Pulmonary edema,... |
ORPHA:31826 |
Hemorrhagic Fever-Renal Syndrome |
|
Dyspnea, Hypotension, Cough, Palpitations, Intracranial hemorrhage, Hypertension, Capillary leak,... |
ORPHA:340 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
Heterotaxy, Visceral, 4, Autosomal |
|
Pulmonary artery atresia, Dextrocardia, Right aortic arch, Ventricular septal defect, Total anoma... |
OMIM:613751 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Syncope, First degree a... |
OMIM:613697 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Lip telangiectasia, Hypoxemia, Venous varicosities of celiac and mesenteric vessels, Nasal mucosa... |
OMIM:187300 |
Diethylstilbestrol Syndrome |
|
Cryptorchidism, Micropenis, Abnormality of the uterus, Abnormal testis morphology, Hypoplasia of ... |
ORPHA:1916 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Dehydration, Atrial septal defect, Ventricular septal defect, Right ventricular hypertrophy, Pate... |
OMIM:208085 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Pulmonary arterial hypertension, Dyspnea, Atelectasis, Cough, Hepatomegaly, Recurrent lower respi... |
OMIM:620233 |
Senior-Loken Syndrome 3 |
|
Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Polydip... |
OMIM:606995 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Ventricular tachycardia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction... |
OMIM:613251 |
Ebstein Malformation Of The Tricuspid Valve |
|
Right bundle branch block, Chest pain, Abnormal endocardium morphology, Atrial septal defect, Arr... |
ORPHA:1880 |
Sengers Syndrome |
|
Cardiac arrest, Pulmonary arterial hypertension, Myopathy, Respiratory insufficiency, Sudden card... |
OMIM:212350 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Right ventricular hypertrophy, Patent foramen ovale, Ventricular septal defect |
OMIM:614261 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Myofiber disarray, Hypertrophic cardiomyopathy, Mitral valve prolap... |
OMIM:614676 |
Scorpion Envenomation |
|
Myocarditis, Rhabdomyolysis, Stroke, Edema, Arrhythmia, Hypertension, Prominent U wave, Premature... |
ORPHA:466677 |
Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Dyspla... |
ORPHA:3093 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly |
OMIM:619064 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Tracheomalacia, Atelectasis, Pulmonary hypoplasia, Periorbital edema, Peripheral pulmonary artery... |
OMIM:613177 |
Eisenmenger Syndrome |
|
Stroke, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Bacterial endocardi... |
ORPHA:97214 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Abnormal T-wave, Reduced FEV1/FVC ratio, Central sleep apnea, Ri... |
ORPHA:70591 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertrophic c... |
OMIM:613874 |
Primary Ciliary Dyskinesia |
|
Situs inversus totalis, Recurrent sinopulmonary infections, Chronic sinusitis, Atrial situs ambig... |
ORPHA:244 |
Senior-Loken Syndrome 1 |
|
Thickening of the tubular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency,... |
OMIM:266900 |
Hereditary Hemorrhagic Telangiectasia |
|
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, Pulmonary arterial hypertension, Abnor... |
ORPHA:774 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Renal insufficiency, Truncal obesity, Polydipsia, Obesity |
OMIM:615986 |
Ogden Syndrome |
|
Aspiration, Secundum atrial septal defect, Enlarged kidney, Ventricular septal defect, Atrial sep... |
OMIM:300855 |
Congenital Tricuspid Stenosis |
|
Pulmonary arterial hypertension, Hypotension, Bacterial endocarditis, Tricuspid regurgitation, Co... |
ORPHA:95459 |
Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Hydroureter, Renal insufficiency, Functional abnormality of the bladder, Failu... |
ORPHA:223 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, ... |
ORPHA:99125 |
Aortic Arch Interruption |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Abnormal heart morphology,... |
ORPHA:2299 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Hypertension, Paroxysmal atrial fibrillation, Prolonged PR interval |
OMIM:615378 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Polyuria, Megacystis, Failure to thrive |
OMIM:125800 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
Apparent Mineralocorticoid Excess |
|
Nephrocalcinosis, Renal insufficiency, Failure to thrive, Renal sodium wasting, Polydipsia, Abnor... |
ORPHA:320 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Polyuria, Megacystis, Failure to thrive |
OMIM:304800 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Pulmonary arterial hypertension, Pulmonic stenosis, Atrial septal defect, Ventri... |
OMIM:608149 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:612336 |
Japanese Encephalitis |
|
Distal lower limb muscle weakness, Skeletal muscle atrophy, Cerebral edema, Irregular respiration... |
ORPHA:79139 |
Gaucher Disease, Type I |
|
Pulmonary arterial hypertension, Dyspnea, Mitral regurgitation, Hypertension, Hepatomegaly, Aorti... |
OMIM:230800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Tricuspid regurgitation, Hypertrophic c... |
OMIM:619051 |
Congenital Heart Defects, Multiple Types, 6 |
|
Secundum atrial septal defect, Pulmonary artery atresia, Coarctation of aorta, Pulmonic stenosis,... |
OMIM:613854 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Stroke, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, A... |
ORPHA:85451 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Hepatomegaly, Ventricular sept... |
OMIM:613404 |
Lymphatic Malformation 6 |
|
Nonimmune hydrops fetalis, Generalized edema, Edema, Atrial septal defect, Polyhydramnios, Perior... |
OMIM:616843 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Dyspnea, Left ventricular hypertrophy, Pa... |
OMIM:608758 |
East Syndrome |
|
Enuresis, Renal magnesium wasting, Abnormal urinary electrolyte concentration, Renal sodium wasti... |
ORPHA:199343 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Pulmonary arterial hypertension, Mitral regurgitation, Aortic regurgitation |
OMIM:614651 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Ventricular tachycardia, Dyspnea, Left ventricular hypertrophy, Palpitations, Angina pectoris, Hy... |
OMIM:613873 |
Atrial Septal Defect 1 |
|
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Second degree atr... |
OMIM:108800 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Hypertension, Tachypnea, Vascular dilatation, Cardiomegaly |
OMIM:613320 |
Proteus Syndrome |
|
Splenomegaly, Venous malformation |
OMIM:176920 |
Congenital Alveolar Capillary Dysplasia |
|
Pulmonary arterial hypertension, Hypoplastic left heart, Ventricular septal defect, Tetralogy of ... |
ORPHA:210122 |
Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Cardiac arrest, Left anterior fascicular block, Dyspnea, Ventricular tachycardia, Atrial septal d... |
OMIM:612098 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Subarachnoid hemorrhage, Pulmonary arteriovenous malformation, Lip telangiectasia, Dyspnea, Dilat... |
OMIM:610655 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Coarctation of aorta, Atrial septal defect, Patent ductus arteri... |
OMIM:614857 |
Oligomeganephronia |
|
Proteinuria, Renal tubular atrophy, Small for gestational age, Stage 5 chronic kidney disease, De... |
ORPHA:2260 |
Cystinosis |
|
Proteinuria, Renal insufficiency, Nephropathy, Renal tubular dysfunction, Failure to thrive, Poly... |
ORPHA:213 |
Familial Thrombocytosis |
|
Pulmonary arterial hypertension, Syncope, Transient ischemic attack, Cerebral ischemia, Splenomeg... |
ORPHA:71493 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... |
ORPHA:75565 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect, Intracranial hemorrhage, Hypertension... |
ORPHA:369929 |
Braddock Syndrome |
|
Congenital muscular torticollis, Neonatal respiratory distress, Pulmonary arterial hypertension, ... |
ORPHA:52047 |
Isolated Right Ventricular Hypoplasia |
|
Systolic heart murmur, Right ventricular failure, Atrial septal defect, Right-to-left shunt, Fati... |
ORPHA:439 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Pulmonary arterial hypertension, Ventricular septal defect, Left ventricular hypertrophy, Hyperte... |
OMIM:615474 |
Cardiac Diverticulum |
|
Abnormality of the diaphragm, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallo... |
ORPHA:1686 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Skeletal muscle atrophy, Respiratory distress, Bradycardia, Stro... |
OMIM:619272 |
Lymphoid Interstitial Pneumonia |
|
Raynaud phenomenon, Dyspnea, Enlarged kidney, Decreased DLCO, Restrictive ventilatory defect, Cou... |
ORPHA:79128 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Pulmonary hypoplasi... |
OMIM:619351 |
Lipoyltransferase 1 Deficiency |
|
Bradycardia, Pulmonary arterial hypertension |
OMIM:616299 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Polyuria, Hypercalciuria |
OMIM:613677 |
Hurler-Scheie Syndrome |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Camptodactyly of finger, Mitra... |
OMIM:607015 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Mitral regurgitation, Atrial septal d... |
OMIM:620244 |
Heterotaxy, Visceral, 7, Autosomal |
|
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Hypoplasia of right ventricle, Ri... |
OMIM:616749 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Increased nuchal translucency, Pulmonary arterial hypertension, Proximal muscle weakness in lower... |
ORPHA:280633 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Lip telangiectasia, Facial telangiectasia, Nasal mucosa telangiectasia, Transient ischemic attack... |
OMIM:600376 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Flexion contracture, Pulmonary arterial hypertension, Abnormal heart morphology, Recurrent upper ... |
ORPHA:391372 |
Polycythemia Vera |
|
Stroke, Respiratory insufficiency, Hypertension, Pulmonary embolism, Intermittent claudication, H... |
ORPHA:729 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Camptodactyly of finger, Pulmonary arterial hypertension, Camptodactyly, Pulm... |
OMIM:602782 |
Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... |
OMIM:601494 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... |
OMIM:613550 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Edema, Pulmonary embolism, Hepatomegaly, Recurrent lower respiratory tract infections, Intestinal... |
OMIM:226300 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pulmonary edema, Congestive heart failure, Pericardial effusion, Dilated ca... |
ORPHA:73224 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Global glomerulosclerosis, Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate... |
OMIM:602522 |
Mixed Connective Tissue Disease |
|
Myocarditis, Pulmonary arterial hypertension, Dyspnea, Pleuritis, Joint swelling, Xerostomia, Hep... |
ORPHA:809 |
Loeys-Dietz Syndrome 6 |
|
Vertebral artery aneurysm, Thoracic aortic aneurysm, Ventricular hypertrophy, Varicose veins, Car... |
OMIM:619656 |
Paget Disease Of Bone 6 |
|
Coronary artery atherosclerosis, Left ventricular hypertrophy |
OMIM:616833 |
Scleroderma |
|
Myocarditis, Raynaud phenomenon, Pulmonary arterial hypertension, Dyspnea, Pericarditis, Intersti... |
ORPHA:801 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Macroglossia, Aspiration, Pulmonary arterial hypertension, Absent muscle fiber merosin, Reduced l... |
ORPHA:258 |
Parkes Weber Syndrome |
|
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, High-output congestive heart failure, ... |
ORPHA:90307 |
Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Abnormal pulmonary valve morphology, Pulmonary artery atresia, T... |
ORPHA:974 |
Hyperparathyroidism, Neonatal Severe |
|
Hypercalciuria, Failure to thrive, Polydipsia, Aminoaciduria, Polyuria, Hyperphosphaturia |
OMIM:239200 |
Diffuse Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Dyspnea, Xerostomia, Pulmonary fibrosis, Congestive heart failur... |
ORPHA:220393 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Mitral regurgitation, Coarctation of aorta, Left ventricular hypertrophy, Mitral atresia, Hyperte... |
OMIM:220111 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatosplenomegaly, Secundum atrial septal defect, Pulmonary arterial hypertension, Recurrent res... |
OMIM:612541 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Congestive heart failure, Arteriovenous malformation |
ORPHA:137608 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Aplasia of the left hemidiaphragm... |
OMIM:620025 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal defect, Respiratory dis... |
ORPHA:2519 |
Kaposi Sarcoma |
|
Venous insufficiency, Abnormal lung morphology, Lymphedema |
ORPHA:33276 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Restrictive ventilatory defect, Decreased muscle mass, Wrist drop, Muscle fiber atrophy, Aortic a... |
ORPHA:1900 |
Congenital Disorder Of Glycosylation, Type It |
|
Rhabdomyolysis, Pulmonary arterial hypertension, Dyspnea, Coarctation of aorta, Ventricular septa... |
OMIM:614921 |
Cardiogenic Shock |
|
Cardiac arrest, Abnormal EKG, ST segment elevation, Dyspnea, Mitral regurgitation, Hypotension, E... |
ORPHA:97292 |
Diffuse Alveolar Hemorrhage |
|
Dyspnea, Increased DLCO, Restrictive ventilatory defect, Cough, Hypoxemia, Pulmonary venous hyper... |
ORPHA:90060 |
Bardet-Biedl Syndrome 17 |
|
Stage 5 chronic kidney disease, Micropenis, Renal cyst, Polydipsia, Polyuria, Obesity |
OMIM:615994 |
Sick Sinus Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Left ventricular hypertro... |
OMIM:163800 |
Proximal Renal Tubular Acidosis |
|
Nephrocalcinosis, Hypernatriuria, Glycosuria, Hyperuricosuria, Bicarbonaturia, Hypercalciuria, Fa... |
ORPHA:47159 |
Distal Renal Tubular Acidosis |
|
Hypocitraturia, Nephrocalcinosis, Decreased glomerular filtration rate, Hypermagnesiuria, Renal c... |
ORPHA:18 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Enuresis, Hypocalciuria, Renal sodium wasting, Salt craving, Renal potassium wasting, Polydipsia,... |
OMIM:612780 |
Juvenile Nephropathic Cystinosis |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Chronic kidney disease, Renal... |
ORPHA:411634 |
Overlap Myositis |
|
Raynaud phenomenon, Pulmonary arterial hypertension, Perifascicular muscle fiber atrophy, Distal ... |
ORPHA:206572 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pulmonary arterial hypertension |
OMIM:619059 |
Systemic Sclerosis |
|
Myocarditis, Raynaud phenomenon, Pulmonary arterial hypertension, Dyspnea, Interstitial cardiac f... |
ORPHA:90291 |
Gitelman Syndrome |
|
Enuresis, Renal magnesium wasting, Hypocalciuria, Salt craving, Failure to thrive, Renal potassiu... |
OMIM:263800 |
Viss Syndrome |
|
Ventricular septal defect, Atrial septal defect, Left aortic arch with retroesophageal right subc... |
OMIM:619472 |
Lymphedema-Distichiasis Syndrome |
|
Nonimmune hydrops fetalis, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Predominan... |
OMIM:153400 |
Liver Disease, Severe Congenital |
|
Systolic heart murmur, Left atrial enlargement, Status asthmaticus, Cough, Ventricular septal def... |
OMIM:619991 |
Schimke Immuno-Osseous Dysplasia |
|
Stroke, Pulmonary arterial hypertension, Ischemic stroke, Hypertension, Transient ischemic attack... |
ORPHA:1830 |
Infantile Nephropathic Cystinosis |
|
Abnormal tubulointerstitial morphology, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunc... |
ORPHA:411629 |
Pulmonary Alveolar Microlithiasis |
|
Subpleural interstitial thickening, Hypoxemia, Hepatomegaly, Respiratory failure, Pneumothorax, O... |
ORPHA:60025 |
Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Hepatomegaly, Abnormal myocardium morphology, Pericardial effusi... |
ORPHA:77259 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Systolic heart murmur, Right aortic arch, Atrial septal defect, Tetralogy of Fallot, Ventricular ... |
OMIM:617478 |
Dermatomyositis |
|
Myocarditis, Recurrent respiratory infections, Pulmonary arterial hypertension, Vasculitis, Edema... |
ORPHA:221 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Dyspnea, Anasarca, Edema, Hypertension, Pulmonary embolism, Facial edema, Respiratory tract infec... |
ORPHA:567546 |
Schimke Immunoosseous Dysplasia |
|
Stroke, Pulmonary arterial hypertension, Dyspnea, Arteriosclerosis, Hypertension, Transient ische... |
OMIM:242900 |
Meacham Syndrome |
|
Hypoplastic left heart, Enlarged kidney, Atrial septal defect, Tetralogy of Fallot, Ventricular s... |
OMIM:608978 |
Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Pulmonic stenosis, Aortic root aneurysm, Aortic regurgitation, Obstructiv... |
OMIM:609008 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdo... |
ORPHA:3309 |
Brain-Lung-Thyroid Syndrome |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Recurrent respiratory infections,... |
ORPHA:209905 |
Helix Syndrome |
|
Renal insufficiency, Hypocalciuria, Polydipsia, Nephrolithiasis, Polyuria |
OMIM:617671 |
Clapo Syndrome |
|
Lymphedema, Venous malformation, Varicose veins |
ORPHA:168984 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Macroglossia, Pulmonary arterial hypertension, Recurrent respiratory infectio... |
ORPHA:505248 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Edema, Restrictive ventilatory defect, Respiratory insufficiency... |
ORPHA:2905 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Stroke, Lacunar stroke, Vascular granular osmiophilic material deposition, Varicose veins |
OMIM:125310 |
Enlarged Parietal Foramina |
|
Abnormal cerebral vein morphology, Venous malformation |
ORPHA:60015 |
Nestor-Guillermo Progeria Syndrome |
|
Pulmonary arterial hypertension, Dyspnea, Mitral regurgitation, Prominent superficial veins, Left... |
OMIM:614008 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Tetralogy of Fallot, Ventricul... |
ORPHA:163956 |
19P13.3 Microduplication Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:447980 |
Liposarcoma |
|
Varicose veins |
ORPHA:69078 |
Heterotaxy, Visceral, 12, Autosomal |
|
Situs inversus totalis, Hypoplastic left heart, Right aortic arch, Ventricular septal defect, Atr... |
OMIM:619702 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Stage 5 chronic kidney disease, Chronic kidney disea... |
ORPHA:84081 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Facial paralysis, Respiratory failure |
OMIM:605711 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Pulmonary arterial hypertension, Dyspnea, Atrial septal defect, Congenital contracture, Patent du... |
ORPHA:261279 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory insufficiency, Type 2 muscle fiber atrophy, Pulmonary arterial hypertension, Respirat... |
OMIM:613845 |
Generalized Arterial Calcification Of Infancy |
|
Stroke, Ventricular hypertrophy, Transient ischemic attack, Pulmonary arterial hypertension, Coro... |
ORPHA:51608 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventricular septal defect, L... |
OMIM:300967 |
Spastic Paraplegia Type 2 |
|
Recurrent respiratory infections, Pulmonary embolism |
ORPHA:99015 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Hydrops fetalis, Hepatomegaly,... |
ORPHA:77261 |
Cirrhosis, Familial |
|
Pulmonary arterial hypertension, Hypertension, Ascites |
OMIM:215600 |
Geleophysic Dysplasia 2 |
|
Pulmonary arterial hypertension, Mitral regurgitation, Respiratory insufficiency, Hepatomegaly, A... |
OMIM:614185 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Hypercalciuria |
ORPHA:251274 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Atrial septal defect, Polyhydr... |
OMIM:620186 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Atrial septal defect, Abnormal left ventricle morphology, Abnormal car... |
ORPHA:466791 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Ventricular septa... |
ORPHA:216694 |
Cystinosis, Nephropathic |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Renal Fanconi syn... |
OMIM:219800 |
Livedoid Vasculopathy |
|
Venous insufficiency, Ischemic stroke, Hypertension, Varicose veins, Abnormal capillary morpholog... |
ORPHA:542643 |
Sarcoidosis, Susceptibility To, 1 |
|
Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Hepat... |
OMIM:181000 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Recurrent pneumonia, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal de... |
OMIM:616449 |
Bartter Syndrome, Type 2, Antenatal |
|
Small for gestational age, Nephrocalcinosis, Hyperchloriduria, Increased urinary potassium, Hyper... |
OMIM:241200 |
Primary Unilateral Adrenal Hyperplasia |
|
Increased urinary potassium, Polydipsia |
ORPHA:231580 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Distal lower limb amyotrophy, Leg muscle stiffness, Lower limb muscle weakness, Varicose veins, D... |
ORPHA:100991 |
Fg Syndrome Type 1 |
|
Pulmonary arterial hypertension, Coarctation of aorta, Atrial septal defect, Progressive flexion ... |
ORPHA:93932 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Fusiform ascending tubular aorta aneurysm, Mitral regurgitation, Aortic root aneurysm, Left ventr... |
OMIM:617168 |
Mucopolysaccharidosis, Type Vi |
|
Macroglossia, Pulmonary arterial hypertension, Mitral regurgitation, Restrictive ventilatory defe... |
OMIM:253200 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal defect, Left superior v... |
ORPHA:464738 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Hepatosplenomegaly, Pulmonary arterial hypertension, Medial calcification of large arteries, Rena... |
ORPHA:391487 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Stroke, Pulmonary arterial hypertension, Dehydration, Subdural hemorrhage, Hydrops fetalis, Pulmo... |
ORPHA:79282 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Macroglossia, Neonatal respiratory distress, Diastasis recti, Abnormal lung lobation, Pulmonic st... |
OMIM:312870 |
Lysosomal Acid Lipase Deficiency |
|
Hepatosplenomegaly, Stroke, Pulmonary arterial hypertension, Dehydration, Hypotension, Bone-marro... |
ORPHA:275761 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Hyperventilation, Persistent fetal circulation, Pericardial effusion, ... |
OMIM:618775 |
Angioosteohypertrophic Syndrome |
|
Peripheral arteriovenous fistula, Venous insufficiency, Tricuspid valve prolapse, Pulmonary embol... |
ORPHA:2346 |
Adams-Oliver Syndrome 1 |
|
Pulmonary arterial hypertension, Hypoplastic left heart, Pulmonic stenosis, Ventricular septal de... |
OMIM:100300 |
Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Camptodactyly, Respiratory insufficiency, Contracture of the pro... |
OMIM:601559 |
Thymic Neuroendocrine Tumor |
|
Cough, Prominent veins on trunk, Abnormal breath sound, Abnormal vena cava morphology |
ORPHA:97289 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormal cerebral vascular morphology, Abnormal venous morphology, Enlarged kidney, Telangiectasi... |
ORPHA:276280 |
Melas |
|
Abnormal mitochondria in muscle tissue, Pulmonary arterial hypertension, Concentric hypertrophic ... |
ORPHA:550 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Hepatomegaly, Bundle branch block, Bradycardia, Epistaxis, Pulmonary arterial hypert... |
ORPHA:99827 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Respiratory distress, Central apnea, Congestive heart failure, R... |
OMIM:616482 |
3Q29 Microdeletion Syndrome |
|
Pulmonary arterial hypertension, Subvalvular aortic stenosis, Patent ductus arteriosus |
ORPHA:65286 |
Lymphedema-Distichiasis Syndrome |
|
Arrhythmia, Varicose veins, Patent ductus arteriosus, Abnormality of the pulmonary vasculature, P... |
ORPHA:33001 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Recurrent respiratory infections, Internal carotid artery dissection, Right ventricular hypertrop... |
OMIM:150230 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Periorbital edema, Pulmonary embolism, Respiratory tract infection, Edema |
ORPHA:567548 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Torticollis, Varicose veins |
OMIM:314300 |
Renal Nutcracker Syndrome |
|
Dilatation of mesenteric artery, Syncope, Renal artery stenosis, Varicose veins, Vulval varicose ... |
ORPHA:71273 |
Carey-Fineman-Ziter Syndrome 1 |
|
Pulmonary arterial hypertension, Myopathy, Respiratory insufficiency, Weakness of facial musculat... |
OMIM:254940 |
Pediatric-Onset Graves Disease |
|
Polyphagia, Polydipsia, Hyperactivity, Failure to thrive |
ORPHA:525731 |
Foix-Alajouanine Syndrome |
|
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Lower limb muscle weakness, Arte... |
ORPHA:79093 |
Parathyroid Carcinoma |
|
Renal hamartoma, Nephrocalcinosis, Renal cyst, Renal insufficiency, Hypercalciuria, Dysphagia, Ne... |
ORPHA:143 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Pulmonary arterial hypertension, Camptodactyly, Central sleep apnea, Obstructive sleep apnea, Fle... |
OMIM:620029 |
Immunodeficiency 87 And Autoimmunity |
|
Pulmonary arterial hypertension, Anasarca, Atrial septal defect, Atrioventricular canal defect, H... |
OMIM:619573 |
Osteogenesis Imperfecta, Type Iii |
|
Pulmonary arterial hypertension |
OMIM:259420 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
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Pulmonary arterial hypertension, Coarctation of aorta, Ventricular septal defect, Laryngotracheom... |
OMIM:618454 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatosplenomegaly, Pulmonary arterial hypertension, Bacterial endocarditis, Calcification of the... |
ORPHA:2072 |
Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Pulmonary arterial hypertension, High-output congestive heart failure, Hepato... |
ORPHA:231222 |
Encephalocraniocutaneous Lipomatosis |
|
Pulmonary arterial hypertension, Coarctation of aorta, Tricuspid valve prolapse, Interrupted aort... |
ORPHA:2396 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Glomerulopathy, Renal cell carcinoma, Horseshoe kidney, Renal Fanconi syndro... |
ORPHA:93111 |
Marshall-Smith Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Ventricular septal defect, Dysplastic aort... |
OMIM:602535 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Pulmonary arterial hypertension, Atrial septal defect, Acute respiratory distress syndrome, Respi... |
OMIM:620005 |
Septo-Optic Dysplasia Spectrum |
|
Obesity, Polydipsia, Hypoplasia of penis |
ORPHA:3157 |
Arima Syndrome |
|
Polycystic kidney dysplasia, Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, ... |
OMIM:243910 |
Gaucher Disease |
|
Pulmonary arterial hypertension, Hydrops fetalis, Respiratory insufficiency, Hepatomegaly, Abnorm... |
ORPHA:355 |
Renal Cysts And Diabetes Syndrome |
|
Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Renal cyst, Atretic vas deferens, Ureter... |
OMIM:137920 |
Idiopathic Hypereosinophilic Syndrome |
|
Raynaud phenomenon, Hepatosplenomegaly, Dyspnea, Joint swelling, Angioedema, Cough, Intracranial ... |
ORPHA:3260 |
Proteus-Like Syndrome |
|
Bronchogenic cyst, Venous insufficiency, Splenomegaly |
ORPHA:2969 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Hypoxemia, Patent ductus arter... |
ORPHA:2282 |
Juvenile Polyposis Syndrome |
|
Pulmonary arteriovenous malformation, Pulmonary arterial hypertension, Hematochezia, Hepatic arte... |
ORPHA:2929 |
Hutchinson-Gilford Progeria Syndrome |
|
Stroke, Intracranial hemorrhage, Abnormal mitral valve morphology, Ventricular hypertrophy, Upper... |
ORPHA:740 |
Glomuvenous Malformation |
|
Gastrointestinal arteriovenous malformation, Venous malformation, Arteriovenous malformation |
ORPHA:83454 |
Hepatocellular Carcinoma |
|
Venous insufficiency, Dyspnea, Hypotension, Anasarca, Hepatomegaly, Pedal edema, Portal hypertens... |
ORPHA:88673 |
Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
Isotretinoin-Like Syndrome |
|
Conotruncal defect, Abnormality of the pulmonary veins, Abnormal cardiac atrium morphology, Abnor... |
ORPHA:2306 |
Fontaine Progeroid Syndrome |
|
Pulmonary arterial hypertension, Hypoplasia of the abdominal wall musculature, Left ventricular h... |
OMIM:612289 |
Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysphagia, Abnormality of the urethra, Polydipsia, Dysuria, Weight loss |
ORPHA:537 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Abnormal pulmonary valve morph... |
ORPHA:667 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Macroglossia, Pulmonary arterial hypertension, Aspiration pneumonia, Tracheomalacia, Aortic root ... |
ORPHA:444077 |
Blau Syndrome |
|
Pulmonary arterial hypertension, Dyspnea, Camptodactyly of finger, Joint swelling, Large vessel v... |
ORPHA:90340 |
Erdheim-Chester Disease |
|
Hydronephrosis, Renal insufficiency, Polydipsia, Dysuria, Weight loss |
ORPHA:35687 |
Hallermann-Streiff Syndrome |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Tracheomalacia, Hypertension, ... |
OMIM:234100 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Venous malformation |
OMIM:612918 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal hamartoma, Nephrocalcinosis, Renal cyst, Renal insufficiency, Hypercalciuria, Dysphagia, Ne... |
ORPHA:99880 |
Degcags Syndrome |
|
Hepatosplenomegaly, Tracheomalacia, Pulmonary arterial hypertension, Dysplastic pulmonary valve, ... |
OMIM:619488 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Heart murmur, Abnormal vena cava morphology, Ventricular septal defect |
ORPHA:166035 |
Schwartz-Jampel Syndrome |
|
Pulmonary arterial hypertension, Myopathy, Respiratory insufficiency, Arrhythmia, Flexion contrac... |
ORPHA:800 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cardiac arrest, Secundum atrial septal defect, Situs inversus totalis, Right aortic arch, Ventric... |
OMIM:619534 |
Gitelman Syndrome |
|
Enuresis, Proteinuria, Tubulointerstitial nephritis, Decreased urinary potassium, Renal Fanconi s... |
ORPHA:358 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Camptodactyly, Pulmonic stenosis, Varicose veins, Aortic dissection, Vascular dilatation |
OMIM:618343 |
15Q Overgrowth Syndrome |
|
Pulmonary arterial hypertension, Mitral regurgitation, Contracture of the proximal interphalangea... |
ORPHA:314585 |
Classic Homocystinuria |
|
Arteriovenous malformation, Intracranial hemorrhage, Hypertension, Pulmonary embolism, Hepatomega... |
ORPHA:394 |
H Syndrome |
|
Hepatosplenomegaly, Camptodactyly, Enlarged kidney, Facial telangiectasia, Chronic rhinitis, Vari... |
ORPHA:168569 |
Behçet Disease |
|
Vasculitis, Pleuritis, Mitral regurgitation, Endocarditis, Pulmonary embolism, Aortic regurgitati... |
ORPHA:117 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Repeated pneumothoraces, Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Descending aortic ... |
OMIM:130050 |
Incontinentia Pigmenti |
|
Pulmonary arterial hypertension, Camptodactyly of finger, Cerebral ischemia, Congestive heart fai... |
ORPHA:464 |
Whipple Disease |
|
Polydipsia, Cachexia |
ORPHA:3452 |
Overhydrated Hereditary Stomatocytosis |
|
Pulmonary embolism, Hepatomegaly, Splenomegaly |
OMIM:185000 |
Wolfram Syndrome |
|
Recurrent urinary tract infections, Nephropathy, Polydipsia, Dysuria, Abnormality of the urinary ... |
ORPHA:3463 |
Loeys-Dietz Syndrome 3 |
|
Atrial septal defect, Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, P... |
OMIM:613795 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Macroglossia, Diastasis recti, Pulmonary arterial hypertension, Camptodactyly, Hepatosplenomegaly... |
ORPHA:96334 |
Yunis-Varon Syndrome |
|
Increased nuchal translucency, Pulmonary arterial hypertension, Tetralogy of Fallot, Ventricular ... |
ORPHA:3472 |
17Q11 Microdeletion Syndrome |
|
Stroke, Pulmonary arterial hypertension, Coarctation of aorta, Pulmonic stenosis, Abnormal intern... |
ORPHA:97685 |
Lipodystrophy, Familial Partial, Type 7 |
|
Pulmonary arteriovenous malformation, Pulmonary arterial hypertension, Lower limb muscle weakness... |
OMIM:606721 |
Ctcf-Related Neurodevelopmental Disorder |
|
Pulmonary arterial hypertension, Mitral regurgitation, Coarctation of aorta, Atrial septal defect... |
ORPHA:363611 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Pulmonary arterial hypertension, Camptodactyly of finger, Mitral regurgitation, Pulmonic stenosis... |
OMIM:143095 |
Panhypophysitis |
|
Polydipsia, Hyposthenuria |
ORPHA:95513 |
Menkes Disease |
|
Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Intracranial hemorrha... |
ORPHA:565 |
Glycogen Storage Disease Ic |
|
Pulmonary arterial hypertension, Hypertension, Hepatomegaly, Spider hemangioma, Recurrent upper r... |
OMIM:232240 |
Sturge-Weber Syndrome |
|
Stroke, Pulmonary embolism, Abnormal cerebral vascular morphology, Conjunctival telangiectasia |
ORPHA:3205 |
Dehydrated Hereditary Stomatocytosis |
|
Pulmonary venous hypertension, Splenomegaly, Edema |
ORPHA:3202 |
48,Xxxy Syndrome |
|
Recurrent respiratory infections, Pulmonary embolism, Asthma |
ORPHA:96263 |
49,Xxxxy Syndrome |
|
Recurrent respiratory infections, Pulmonary embolism, Asthma |
ORPHA:96264 |
Tetrasomy 9P |
|
Raynaud phenomenon, Pulmonary arterial hypertension, Dextrocardia, Pulmonary hypoplasia, Abnormal... |
ORPHA:3310 |
Familial Chylomicronemia Syndrome |
|
Hepatosplenomegaly, Pulmonary embolism, Precocious atherosclerosis |
ORPHA:444490 |
Von Hippel-Lindau Syndrome |
|
Multiple renal cysts, Papillary cystadenoma of the epididymis, Epididymal cyst |
OMIM:193300 |
Melnick-Needles Syndrome |
|
Mitral valve prolapse, Pulmonary arterial hypertension, Tricuspid valve prolapse, Recurrent respi... |
OMIM:309350 |
Neuroleptic Malignant Syndrome |
|
Rhabdomyolysis, Aspiration pneumonia, Dehydration, Hypotension, Arrhythmia, Hypertension, Pulmona... |
ORPHA:94093 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Aortic root aneurysm, Prominent veins on trunk, Carotid artery stenosis, Varicose veins, Pericard... |
ORPHA:536532 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve, Patent duc... |
OMIM:613355 |
Osteopetrosis With Renal Tubular Acidosis |
|
Obstructive sleep apnea, Pulmonary arterial hypertension, Hepatomegaly, Oligohydramnios |
ORPHA:2785 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Cog1-Cdg |
|
Hepatosplenomegaly, Pulmonary arterial hypertension, Atrial septal dilatation |
ORPHA:263508 |
Rabson-Mendenhall Syndrome |
|
Long penis, Polydipsia, Nephrocalcinosis |
ORPHA:769 |
Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Polycystic kidney dysplasia, Acute kidney injury, Stage 5 chr... |
ORPHA:731 |
22Q11.2 Deletion Syndrome |
|
Abnormal pulmonary valve morphology, Abnormal lung lobation, Chronic pulmonary obstruction, Tetra... |
ORPHA:567 |
Thauvin-Robinet-Faivre Syndrome |
|
Macroglossia, Ventricular septal defect, Varicose veins, Mitral valve prolapse, Pedal edema |
OMIM:617107 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Macroglossia, Camptodactyly, Enlarged kidney, Ventricular septal defect, Varicose veins, Mitral v... |
ORPHA:500095 |
Vascular Ehlers-Danlos Syndrome |
|