Aneurysm, Intracranial Berry, 12 |
|
Subarachnoid hemorrhage, Internal carotid artery dissection, Arterial fibromuscular dysplasia, Fu... |
OMIM:618734 |
Internal Carotid Absence |
|
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia |
ORPHA:981 |
Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Co... |
OMIM:234810 |
Cerebral Cavernous Malformations 2 |
|
Telangiectasia, Stroke, Cerebral hemorrhage, Cerebral cavernous malformation |
OMIM:603284 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Circumvallate Placenta Syndrome |
|
Respiratory insufficiency, Intracranial hemorrhage |
OMIM:215550 |
Heparin-Induced Thrombocytopenia |
|
Stroke, Pulmonary embolism, Cerebral ischemia, Myocardial infarction, Abnormal onset of bleeding |
ORPHA:3325 |
Antithrombin Iii Deficiency |
|
Arterial occlusion, Pulmonary embolism |
OMIM:613118 |
Atrial Septal Defect, Sinus Venosus Type |
|
Stroke, Paradoxical splitting of the second heart sound, Tricuspid regurgitation, Supraventricula... |
ORPHA:99105 |
Tuberculosis |
|
Cough, Abnormal lung morphology, Fatigue |
ORPHA:3389 |
Congenital Factor V Deficiency |
|
Gingival bleeding, Prolonged bleeding after dental extraction, Hematochezia, Bruising susceptibil... |
ORPHA:326 |
Familial Cervical Artery Dissection |
|
Subarachnoid hemorrhage, Stroke, Arterial fibromuscular dysplasia, Carotid artery tortuosity, Hyp... |
ORPHA:36382 |
Pontiac Fever |
|
Cough, Myalgia, Fatigue |
ORPHA:99748 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Gingival bleeding, Bruising susceptibility, Persistent bleeding after trauma, Intracranial hemorr... |
ORPHA:79 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Congenital Factor Xiii Deficiency |
|
Gingival bleeding, Prolonged bleeding after dental extraction, Myeloid leukemia, Bruising suscept... |
ORPHA:331 |
Congenital Factor Ii Deficiency |
|
Prolonged prothrombin time, Prolonged bleeding after dental extraction, Post-partum hemorrhage, I... |
ORPHA:325 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Dyspnea, Syncope, Palpitations, Elevated jugular venous pressure... |
ORPHA:422 |
Brain Small Vessel Disease 2 |
|
Polymicrogyria, Intracranial hemorrhage, Subcortical heterotopia |
OMIM:614483 |
Factor Xiii, A Subunit, Deficiency Of |
|
Gingival bleeding, Bruising susceptibility, Persistent bleeding after trauma, Intracranial hemorr... |
OMIM:613225 |
Periventricular Nodular Heterotopia 1 |
|
Stroke, Cerebral hemorrhage, Gray matter heterotopia, Patent ductus arteriosus, Abnormality of ne... |
OMIM:300049 |
Abetal34V Amyloidosis |
|
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage |
ORPHA:324703 |
Glanzmann Thrombasthenia 1 |
|
Gingival bleeding, Bruising susceptibility, Subdural hemorrhage, Intracranial hemorrhage, Excessi... |
OMIM:273800 |
Cardiomyopathy, Dilated, 2G |
|
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Multifocal atrial... |
OMIM:619897 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Stroke, Intracranial hemorrhage, Cerebral hemorrhage |
OMIM:105150 |
Afibrinogenemia, Congenital |
|
Gingival bleeding, Prolonged bleeding after dental extraction, Epidural hemorrhage, Bruising susc... |
OMIM:202400 |
Erythrocytosis, Familial, 2 |
|
Hemangioma, Stroke, Pulmonary arterial hypertension, Hypotension, Cerebral hemorrhage, Fatigue, V... |
OMIM:263400 |
Moderate Hemophilia A |
|
Gingival bleeding, Prolonged bleeding after dental extraction, Epidural hemorrhage, Subdural hemo... |
ORPHA:169805 |
Severe Hemophilia A |
|
Epidural hemorrhage, Bruising susceptibility, Subdural hemorrhage, Persistent bleeding after trau... |
ORPHA:169802 |
Factor Vii Deficiency |
|
Prolonged bleeding after dental extraction, Bruising susceptibility, Intracranial hemorrhage, Joi... |
OMIM:227500 |
Snakebite Envenomation |
|
Pain, Stroke, Gingival bleeding, Hypotension, Cardiogenic shock, Intracranial hemorrhage, Ecchymo... |
ORPHA:449285 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Subarachnoid hemorrhage, Cerebral hemorrhage, Subdural hemorrhage, Ischemic stroke, Vasospasm, Tr... |
ORPHA:284388 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... |
OMIM:613485 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Congestive heart failure, Fatigue, Abdominal pain |
OMIM:616794 |
Hemophilia A |
|
Intracranial hemorrhage, Joint hemorrhage, Intraventricular hemorrhage, Spontaneous hematomas, Ga... |
ORPHA:98878 |
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Respiratory insufficiency, Neonatal respiratory distress, Fatigue, Respiratory tract infection |
OMIM:616326 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia, Fatigue |
OMIM:619477 |
Familial Cerebral Saccular Aneurysm |
|
Subarachnoid hemorrhage, Abnormal circle of Willis morphology, Aortic root aneurysm, Hypertension... |
ORPHA:231160 |
Atrial Standstill |
|
Mobitz I atrioventricular block, Ventricular tachycardia, Dyspnea, Reduced left ventricular eject... |
ORPHA:1344 |
Acquired Purpura Fulminans |
|
Prolonged prothrombin time, Neoplasm, Intracranial hemorrhage, Gangrene, Macular purpura, Shock, ... |
ORPHA:49566 |
Acquired Von Willebrand Syndrome |
|
Prolonged prothrombin time, Mitral regurgitation, Pulmonic stenosis, Hypotension, Bruising suscep... |
ORPHA:99147 |
Congenital Factor Vii Deficiency |
|
Prolonged prothrombin time, Gingival bleeding, Bruising susceptibility, Post-partum hemorrhage, I... |
ORPHA:327 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Aspergillosis |
|
Stroke, Ocular pain, Pleuritis, Dyspnea, Abnormality on pulmonary function testing, Chronic pulmo... |
ORPHA:1163 |
Peripartum Cardiomyopathy |
|
Myocarditis, Reduced left ventricular ejection fraction, Abdominal pain, Respiratory failure, Par... |
ORPHA:563 |
Macrophagic Myofasciitis |
|
Myalgia, Fatigue, Arthralgia |
ORPHA:592 |
Polycythemia Vera |
|
Stroke, Gingival bleeding, Bruising susceptibility, Respiratory insufficiency, Hypertension, Pulm... |
ORPHA:729 |
Takayasu Arteritis |
|
Pulmonary arterial hypertension, Vasculitis, Hypertension, Fatigue, Abnormal pattern of respirati... |
ORPHA:3287 |
Immune Thrombocytopenia |
|
Gingival bleeding, Bruising susceptibility, Cerebral hemorrhage, Purpura, Gastrointestinal hemorr... |
ORPHA:3002 |
Tempi Syndrome |
|
Hemangioma, Intracranial hemorrhage, Hypoxemia, Transudative pleural effusion, Telangiectasia, Ab... |
ORPHA:284227 |
Mantle Cell Lymphoma |
|
B-cell lymphoma, Fatigue |
ORPHA:52416 |
Congenital Factor X Deficiency |
|
Subarachnoid hemorrhage, Prolonged prothrombin time, Gingival bleeding, Antepartum hemorrhage, Pr... |
ORPHA:328 |
Polymyositis |
|
Abnormal pulmonary interstitial morphology, Vasculitis, Respiratory insufficiency, Arrhythmia, Ab... |
ORPHA:732 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Myeloproliferative disorder, Bruising susceptibility, Intracran... |
ORPHA:3226 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Hypertension, Fatigue, Myocardial infarction, Exertional dyspnea |
OMIM:133100 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Stroke, Cerebral hemorrhage, Ischemic stroke, Intracranial hemorrhage, Hypertension, Transient is... |
ORPHA:136 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Combined Deficiency Of Factor V And Factor Viii |
|
Prolonged prothrombin time, Gingival bleeding, Prolonged bleeding after dental extraction, Bruisi... |
ORPHA:35909 |
Hodgkin Lymphoma |
|
Neoplasm, Dyspnea, Cough, Bone pain, Fatigue, Lymphoma, Chest pain |
ORPHA:98293 |
Pulmonary Hypertension, Primary, 5 |
|
Pulmonary arterial hypertension, Syncope, Fatigue, Angina pectoris, Right ventricular failure, Ex... |
OMIM:265400 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Fatigue, Hypertension associated with pheoc... |
ORPHA:94080 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Lower limb pain, Dyspnea, Hypertension, Exercise intolerance, Fatigue, Multiple lipomas, Congesti... |
ORPHA:1349 |
Refractory Anemia |
|
Single lineage myelodysplasia, Dyspnea, Abnormal cardiac ventricular function, Myelodysplasia, Fa... |
ORPHA:98826 |
Factor X Deficiency |
|
Prolonged prothrombin time, Gingival bleeding, Intracranial hemorrhage, Joint hemorrhage, Prolong... |
OMIM:227600 |
Hereditary Hemorrhagic Telangiectasia |
|
Cavernous hemangioma, Transient ischemic attack, Epistaxis, Conjunctival telangiectasia, Subarach... |
ORPHA:774 |
Abeta Amyloidosis, Iowa Type |
|
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage |
ORPHA:324708 |
Hemophilia B |
|
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Joint hemorrhage, Cephalohem... |
ORPHA:98879 |
Primary Familial Polycythemia |
|
Dyspnea, Cough, Fatigue, Abdominal pain, Arthralgia, Abnormal bleeding, Epistaxis, Exertional dys... |
ORPHA:90042 |
Atrial Septal Defect, Coronary Sinus Type |
|
Stroke, Supraventricular arrhythmia, Transient ischemic attack, Bundle branch block, Exertional d... |
ORPHA:99104 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Subarachnoid hemorrhage, Intracranial hemorrhage, Ecchymosis, Cephalohematoma, Purpura, Spontaneo... |
ORPHA:853 |
Typhoid |
|
Cardiac arrest, Epistaxis, Cough, Arrhythmia, Fatigue, Abdominal pain, Gastrointestinal hemorrhag... |
ORPHA:99745 |
Analbuminemia |
|
Hypotension, Recurrent lower respiratory tract infections, Fatigue, Patent ductus arteriosus |
OMIM:616000 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Prolonged bleeding after dental extraction, Epidural hemorrhage, Persistent bleeding after trauma... |
ORPHA:465 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Dyspnea, Bruising susceptibility, Myelodysplasia, Fatigue, Abnormal bleeding, Acute leukemia |
ORPHA:231401 |
Spinal Arteriovenous Metameric Syndrome |
|
Arteriovenous malformation, Bone pain, Fatigue, Cutaneous angiolipomas, Visceral angiomatosis, Ga... |
ORPHA:53721 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Arterial stenosis, Hypertension |
ORPHA:820 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Stroke, Bruising susceptibility, Arrhythmia, Fatigue, Gastrointestinal hemorrhage, Spina bifida o... |
ORPHA:230839 |
Methanol Poisoning |
|
Inflammatory arteriopathy, Cerebral hemorrhage, Intracranial hemorrhage, Hypertension, Abdominal ... |
ORPHA:31825 |
Atrial Septal Defect, Ostium Secundum Type |
|
Stroke, Tricuspid regurgitation, Transient ischemic attack, Supraventricular arrhythmia, Bundle b... |
ORPHA:99103 |
Primary Angiitis Of The Central Nervous System |
|
Stroke, Constitutional symptom, Cerebral vasculitis, Intracranial hemorrhage, Transient ischemic ... |
ORPHA:140989 |
Acute Interstitial Pneumonia |
|
Atelectasis, Hypoxemia, Respiratory failure, Arthralgia, Subpleural honeycombing, Dyspnea, Decrea... |
ORPHA:79126 |
Familial Afibrinogenemia |
|
Epistaxis, Gingival bleeding, Cerebral hemorrhage, Abnormal bleeding |
ORPHA:98880 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Lip telangiectasia, Hypoxemia, Venous varicosities of celiac and mesenteric vessels, Nasal mucosa... |
OMIM:187300 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Stroke, Mucoid extracellular matrix accumulation, Transient ischemic attack, Descending thoracic ... |
ORPHA:91387 |
Extracranial Carotid Artery Aneurysm |
|
Pain, Stroke, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Arterial fibromuscular dyspl... |
ORPHA:494424 |
Capillary Malformation-Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Hemangioma, High-output congestive heart failure, Arteriovenous... |
ORPHA:137667 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Constitutional symptom, Hypotension, Cough, Arrhythmia, Multiple myeloma, Cardioresp... |
ORPHA:188 |
Nipah Virus Disease |
|
Hypotension, Cough, Fatigue, Respiratory distress, Recurrent pharyngitis, Myalgia |
ORPHA:99825 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Hemangioma, Venous insufficiency, Respiratory insufficiency, Pu... |
ORPHA:90308 |
Schnitzler Syndrome |
|
Vasculitis, Bone pain, Fatigue, Arthralgia, Lymphoma, Myalgia |
ORPHA:37748 |
Hughes-Stovin Syndrome |
|
Pulmonary arterial hypertension, Vasculitis, Dyspnea, Cough, Pulmonary embolism, Cardiorespirator... |
ORPHA:228116 |
Pseudo-Torch Syndrome 2 |
|
Polymicrogyria, Cerebral hemorrhage, Acute respiratory distress syndrome, Respiratory insufficien... |
OMIM:617397 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Subarachnoid hemorrhage, Pulmonary arteriovenous malformation, Lip telangiectasia, Conjunctival t... |
OMIM:610655 |
Dengue Fever |
|
Gingival bleeding, Hypotension, Bruising susceptibility, Cerebral hemorrhage, Cardiorespiratory a... |
ORPHA:99828 |
Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
Parkes Weber Syndrome |
|
Vascular tortuosity, Abnormal bleeding, Venous malformation, Cerebral arteriovenous malformation,... |
ORPHA:90307 |
Cholangiocarcinoma |
|
Biliary tract neoplasm, Fatigue, Abdominal pain |
ORPHA:70567 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... |
OMIM:615396 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Purpura, Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
Babesiosis |
|
Respiratory insufficiency, Cough, Fatigue, Congestive heart failure, Arthralgia, Myocardial infar... |
ORPHA:108 |
Atrial Septal Defect, Ostium Primum Type |
|
Tricuspid regurgitation, Atrial fibrillation, Exertional dyspnea, Pulmonary artery dilatation, Re... |
ORPHA:99106 |
Familial Multiple Nevi Flammei |
|
Venous insufficiency, Arteriovenous malformation, Arrhythmia, Intracranial hemorrhage, Pulmonary ... |
ORPHA:624 |
Dural Sinus Malformation |
|
Subarachnoid hemorrhage, Ear pain, Stroke, Cerebral hemorrhage, Subdural hemorrhage, Cerebellar h... |
ORPHA:97339 |
Undifferentiated Pleomorphic Sarcoma |
|
Fatigue, Soft tissue sarcoma |
ORPHA:2023 |
Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Acute leukemia, Chronic pulmonary obstruction, Intracranial hemorrhage, Epista... |
ORPHA:906 |
Neurocutaneous Melanocytosis |
|
Neoplasm, Melanoma, Meningocele, Intracranial hemorrhage, Abnormality of neuronal migration |
ORPHA:2481 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hemangioma, Intracranial hemorrhage |
ORPHA:398189 |
Idiopathic Pulmonary Hemosiderosis |
|
Dyspnea, Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Restrictive ventilator... |
ORPHA:99931 |
Adiposis Dolorosa |
|
Chronic pain, Fatigue, Arthralgia, Painful subcutaneous lipomas |
OMIM:103200 |
Liddle Syndrome |
|
Arrhythmia, Hypertension, Cerebral ischemia, Fatigue |
ORPHA:526 |
Ebstein Malformation Of The Tricuspid Valve |
|
Chest pain, Respiratory insufficiency, Arrhythmia, Atrial fibrillation, Fatigue, Sudden cardiac d... |
ORPHA:1880 |
Sengers Syndrome |
|
Cardiac arrest, Pulmonary arterial hypertension, Respiratory insufficiency, Exercise intolerance,... |
OMIM:212350 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Pulmonary arterial hypertension, Dyspnea, Systolic heart murmur, ... |
ORPHA:99095 |
Wyburn-Mason Syndrome |
|
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology,... |
ORPHA:53719 |
Tremor, Hereditary Essential, 2 |
|
Fatigue |
OMIM:602134 |
Autoerythrocyte Sensitization Syndrome |
|
Pain, Epigastric pain, Epistaxis, Bruising susceptibility, Intracranial hemorrhage, Fatigue, Join... |
ORPHA:324636 |
Sneddon Syndrome |
|
Stroke, Ischemic stroke, Hypertension, Cerebral hemorrhage |
OMIM:182410 |
Loeffler Endocarditis |
|
Left ventricular diastolic dysfunction, Right bundle branch block, Dyspnea, Mitral regurgitation,... |
ORPHA:75566 |
Evans Syndrome |
|
Dyspnea, Bruising susceptibility, Syncope, Fatigue, Petechiae, Epistaxis |
ORPHA:1959 |
Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Abnormal respiratory system physiology, Reduc... |
ORPHA:133 |
Laryngeal Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Neoplasm of the larynx, Chronic fatigue, Exertional dyspnea |
ORPHA:100083 |
Familial Hyperaldosteronism Type I |
|
Epistaxis, Hypertension, Intracranial hemorrhage, Secretory adrenocortical adenoma |
ORPHA:403 |
Autoimmune Hemolytic Anemia |
|
Dyspnea, Arrhythmia, Fatigue, Abdominal pain, Congestive heart failure, Lymphoma |
ORPHA:98375 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Lip telangiectasia, Facial telangiectasia, Nasal mucosa telangiectasia, Transient ischemic attack... |
OMIM:600376 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Subarachnoid hemorrhage, Recurrent sinopulmonary infections, Cerebral vasculitis, Recurrent pneum... |
OMIM:243700 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Hematochezia, Diffuse alveolar hemorrhage, Cerebral hemorrhage, Central sleep... |
ORPHA:464321 |
Cryptogenic Organizing Pneumonia |
|
Dyspnea, Wheezing, Restrictive ventilatory defect, Cough, Hypoxemia, Night sweats, Fatigue, Nonpr... |
ORPHA:1302 |
Cerebral Amyloid Angiopathy, App-Related |
|
Subarachnoid hemorrhage, Stroke, Tortuous cerebral arteries, Recurrent cerebral hemorrhage, Cereb... |
OMIM:605714 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Ischemic stroke, Hypertension, Moyamoya phenomenon, Coronary artery atherosc... |
ORPHA:280679 |
Rhabdoid Tumor |
|
Renal neoplasm, Neoplasm of the liver, Respiratory insufficiency, Hypertension, Abdominal pain, I... |
ORPHA:69077 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Stroke, Pulmonary arteriovenous malformation, Hematochezia, Hepatic arteriovenous malformation, M... |
OMIM:175050 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Pulmonary embolism |
OMIM:612336 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatocellular carcinoma, Fatigue, Ecchymosis, Portal hypertension, Petechiae, Epistaxis |
OMIM:619463 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Prolonged QTc interval, Cerebral hemorrhage, Syncope, Ischemic stroke, Hypertension, Impairment o... |
ORPHA:90065 |
Acute Promyelocytic Leukemia |
|
Gingival bleeding, Diffuse alveolar hemorrhage, Bruising susceptibility, Productive cough, Bone p... |
ORPHA:520 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Fixed Subaortic Stenosis |
|
Dyspnea, Mitral regurgitation, Systolic heart murmur, Pulmonic stenosis, Coarctation of aorta, Pa... |
ORPHA:3092 |
Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Hypertension, Intracranial hemorrhage, Secretory adrenocortical adenoma |
ORPHA:404 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Breast carcinoma, B-cell lymphoma, Fatigue, Lymphoma |
ORPHA:86893 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Adrenal pheochromocytoma, Fatigue, Hyperten... |
ORPHA:276621 |
Juvenile Polyposis Syndrome |
|
Intestinal polyp, Abdominal pain, Transient ischemic attack, Spontaneous, recurrent epistaxis, Mu... |
ORPHA:2929 |
Follicular Lymphoma |
|
Pleural effusion, Night sweats, Fatigue, Lymphoma |
ORPHA:545 |
Acquired Methemoglobinemia |
|
Dyspnea, Syncope, Palpitations, Arrhythmia, Hypoxemia, Fatigue, Abdominal pain, Respiratory distr... |
ORPHA:464453 |
Hemorrhagic Fever-Renal Syndrome |
|
Intracranial hemorrhage, Abdominal pain, Respiratory failure, Epistaxis, Dyspnea, Hypotension, Pa... |
ORPHA:340 |
Lymphoid Interstitial Pneumonia |
|
Raynaud phenomenon, Dyspnea, Subpleural interstitial thickening, Decreased DLCO, Restrictive vent... |
ORPHA:79128 |
Refractory Anemia With Excess Blasts |
|
Single lineage myelodysplasia, Acute myeloid leukemia, Palpitations, Bone pain, Fatigue, Multiple... |
ORPHA:86839 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Cerebral hemorrhage, Pheochromocytoma, Congestive heart failure, Positive regitine blocking test,... |
OMIM:171420 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Dyspnea, Pulmonary hemorrhage, Cough, Palpitations, Ischemic str... |
ORPHA:2038 |
Epiphyseal Dysplasia, Multiple, 2 |
|
Knee pain, Foot pain, Fatigue |
OMIM:600204 |
Kaposiform Lymphangiomatosis |
|
Papilloma, Dyspnea, Epidural hemorrhage, Bruising susceptibility, Cough, Exercise intolerance, Ab... |
ORPHA:464329 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Prolonged prothrombin time, Bruising susceptibility, Cerebral hemorrhage, Joint hemorrhage, Ecchy... |
OMIM:277450 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Fatigue, Abnormal pattern of respiration |
ORPHA:29822 |
Inhalational Anthrax |
|
Dyspnea, Hypotension, Fatigue, Respiratory distress, Internal hemorrhage |
ORPHA:247257 |
Hellp Syndrome |
|
Prolonged prothrombin time, Epigastric pain, Hypotension, Cerebral hemorrhage, Shoulder pain, Int... |
ORPHA:244242 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm, Neoplasm of the adrenal cortex, Uterine neoplasm, Arteriovenous malformation, Aortic an... |
ORPHA:109 |
Rheumatic Fever |
|
Myocarditis, Respiratory insufficiency, Arrhythmia, Abnormal pleura morphology, Fatigue, Abdomina... |
ORPHA:3099 |
Isolated Right Ventricular Hypoplasia |
|
Dyspnea, Systolic heart murmur, Right ventricular failure, Hypoxemia, Right-to-left shunt, Fatigu... |
ORPHA:439 |
Thymic Carcinoma |
|
Dyspnea, Cough, Neoplasm of the thymus, Abnormal vena cava morphology, Fatigue, Chest pain |
ORPHA:99868 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Lymphoproliferative disorder, Chronic lymphatic leukemia, Fatigue, Congestive heart failure, Arth... |
ORPHA:90033 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Arachnoid hemangiomatosis, Renal cell carcinoma, Cerebral hemorrhage, Sinus tachycardia, Palpitat... |
ORPHA:29072 |
Familial Colorectal Cancer Type X |
|
Abdominal pain, Benign neoplasm of the central nervous system, Urinary tract neoplasm, Basal cell... |
ORPHA:440437 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Dyspnea, Fatigue |
ORPHA:228312 |
Polycythemia Vera |
|
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage |
OMIM:263300 |
Pheochromocytoma |
|
Hemangioma, Neoplasm, Cerebral hemorrhage, Pheochromocytoma, Renal artery stenosis, Congestive he... |
OMIM:171300 |
Simple Cryoglobulinemia |
|
Raynaud phenomenon, Stroke, Vasculitis, Chronic lymphatic leukemia, Hypertension, Multiple myelom... |
ORPHA:91139 |
Mastocytosis |
|
Acute leukemia, Hypotension, Respiratory insufficiency, Arrhythmia, Cough, Fatigue, Chronic leuke... |
ORPHA:98292 |
Cholestasis-Lymphedema Syndrome |
|
Bone pain, Fatigue, Abdominal pain, Portal hypertension, Gastrointestinal hemorrhage, Multiple li... |
ORPHA:1414 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Vasculitis, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Cough, A... |
ORPHA:183 |
Waldenström Macroglobulinemia |
|
Stroke, Vasculitis, Gingival bleeding, Respiratory insufficiency, Leukemia, Fatigue, Monoclonal i... |
ORPHA:33226 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Heart block, Arrhythmia, Hypoxemia, Capi... |
ORPHA:542323 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic atherosclerotic lesion, Mitral regurgitation, Squamous cell carcinoma of the skin, Aortic ... |
ORPHA:363618 |
Alpha-2-Plasmin Inhibitor Deficiency |
|
Hemothorax, Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma |
OMIM:262850 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Palpitations, Hypertension, Intracranial hemorrhage, Neoplasm of the adrenal gla... |
ORPHA:231625 |
Kaposi Sarcoma |
|
Hemangioma, Lymphoproliferative disorder, Venous insufficiency, Neoplasm by anatomical site, Fati... |
ORPHA:33276 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Fatigue |
OMIM:618573 |
Cocaine Intoxication |
|
Prolonged QRS complex, Hyperventilation, Abdominal pain, Supraventricular arrhythmia, Pneumothora... |
ORPHA:90068 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Fatigue, Arthralgia, Lymphoma, Tachycardia, Exertional dyspnea |
ORPHA:90036 |
Classic Hodgkin Lymphoma |
|
Neoplasm, Respiratory insufficiency, Cough, Bone pain, Fatigue, Lymphoma, Chest pain |
ORPHA:391 |
Relapsing Fever |
|
Prolonged prothrombin time, Epistaxis, Hypotension, Cough, Fatigue, Abdominal pain, Chills, Arthr... |
ORPHA:91547 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Abnormal T-wave, Neoplasm, Myeloproliferative disorder, Reduced ... |
ORPHA:70591 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:1345 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Stroke, Myelodysplasia, Fatigue, Respiratory distress, Cerebral ischemia |
ORPHA:927 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Hemochromatosis, Type 4 |
|
Arrhythmia, Cardiomyopathy, Fatigue, Arthralgia |
OMIM:606069 |
Familial Dilated Cardiomyopathy |
|
Dyspnea, Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ej... |
ORPHA:217607 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormal cerebral vascular morphology, Venous insufficiency, Pulmonary embolism, Purpura, Gangrene |
ORPHA:745 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fatigue |
ORPHA:79299 |
Unclassified Myelodysplastic Syndrome |
|
Night sweats, Fatigue, Multiple lineage myelodysplasia, Myelodysplasia, Acute myeloid leukemia |
ORPHA:98827 |
Lynch Syndrome |
|
Hepatocellular carcinoma, Neoplasm of the rectum, Neoplasm of the thyroid gland, Colon cancer, Ne... |
ORPHA:144 |
Avian Influenza |
|
Dyspnea, Tachypnea, Cough, Productive cough, Hypoxemia, Nonproductive cough, Fatigue, Abdominal p... |
ORPHA:454836 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Dyspnea, Exercise intolerance, Fatigue, Hypertrophic cardiomyopathy, Heart murmur, Myalgia |
OMIM:615418 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Fatigue |
ORPHA:79283 |
Granulomatosis With Polyangiitis |
|
Pleuritis, Hemosiderin-laden macrophages in bronchoalveolar fluid, Diffuse alveolar hemorrhage, R... |
OMIM:608710 |
Legionnaires Disease |
|
Myocarditis, Hypotension, Restrictive ventilatory defect, Arrhythmia, Abnormal pleura morphology,... |
ORPHA:549 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormal cerebral vascular morphology, Venous insufficiency, Pulmonary embolism, Purpura, Gangren... |
ORPHA:743 |
Fetal Gaucher Disease |
|
Stillbirth, Intracranial hemorrhage, Neonatal death |
ORPHA:85212 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia |
OMIM:277175 |
Autoinflammation With Infantile Enterocolitis |
|
Myalgia, Fatigue, Arthralgia, Diffuse alveolar hemorrhage |
OMIM:616050 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Subdural hemorrhage, Respiratory insufficiency due to muscle weakness, Central apnea, Spina bifid... |
OMIM:618291 |
Primary Myelofibrosis |
|
Hemangioma, Constitutional symptom, Fatigue, Ecchymosis, Purpura, Portal hypertension, Petechiae,... |
ORPHA:824 |
Mixed Connective Tissue Disease |
|
Myocarditis, Pulmonary arterial hypertension, Pleuritis, Dyspnea, Fatigue, Pulmonary fibrosis, Pu... |
ORPHA:809 |
Malignant Atrophic Papulosis |
|
Ischemic stroke, Fatigue, Abdominal pain, Gastrointestinal hemorrhage, Arteritis, Respiratory fai... |
ORPHA:679 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary capillary hemangiomatosis, Dyspnea, Diffuse alveolar hemorrhage, Decreased DLCO, Interl... |
ORPHA:199241 |
Aggressive Systemic Mastocytosis |
|
Constitutional symptom, Hypotension, Leukemia, Bone pain, Fatigue, Abdominal pain, Portal hyperte... |
ORPHA:98850 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Ventilator dependence with inability to wean, Respiratory insufficiency, Respiratory insufficienc... |
ORPHA:254875 |
Juvenile Dermatomyositis |
|
Vasculitis, Dyspnea, Restrictive ventilatory defect, Arrhythmia, Cardiomyopathy, Mucosal telangie... |
ORPHA:93672 |
Hemochromatosis, Type 3 |
|
Purpura, Cardiomyopathy, Fatigue |
OMIM:604250 |
Intellectual Disability And Myopathy Syndrome |
|
Sleep apnea, Left ventricular systolic dysfunction, Fatigue |
OMIM:619719 |
Giant Cell Arteritis |
|
Vasculitis, Epistaxis, Cough, Double outlet right ventricle with subpulmonary ventricular septal ... |
ORPHA:397 |
Coronary Arterial Fistula |
|
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Continuous heart murmur, Sy... |
ORPHA:2041 |
Familial Hyperaldosteronism Type Iii |
|
Epistaxis, Hypertension, Intracranial hemorrhage, Prolonged QT interval |
ORPHA:251274 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Congestive heart failure, Fatigue, Exertional dyspnea |
ORPHA:90037 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Right aortic arch, Hypertension, Premature coronary artery atherosclerosis, ... |
OMIM:300845 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the rectum, Fatigue, Neoplasm of the stomach, Gastrointestinal stroma tumor, Gastroin... |
ORPHA:44890 |
Hypophosphatasia, Infantile |
|
Stillbirth, Recurrent respiratory infections, Intracranial hemorrhage, Apnea |
OMIM:241500 |
Glycogen Storage Disease Ii |
|
Subarachnoid hemorrhage, Recurrent respiratory infections, Dyspnea, Wolff-Parkinson-White syndrom... |
OMIM:232300 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Intracranial hemorrhage, Hypertension, Second degree atrioventri... |
ORPHA:369929 |
Eisenmenger Syndrome |
|
Stroke, Right bundle branch block, Tetralogy of Fallot, Hypoxemia, Tricuspid regurgitation, Supra... |
ORPHA:97214 |
Methylmalonic Acidemia With Homocystinuria |
|
Fatigue |
ORPHA:26 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Fatigue |
ORPHA:276608 |
Familial Isolated Restrictive Cardiomyopathy |
|
Stroke, Recurrent respiratory infections, Dyspnea, Mitral regurgitation, Syncope, Pulmonary venou... |
ORPHA:75249 |
Dermatomyositis |
|
Myocarditis, Gastrointestinal stroma tumor, Arthralgia, Myocardial infarction, Recurrent respirat... |
ORPHA:221 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Arteriosclerosis, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Medial calc... |
OMIM:177850 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Exercise-induced myalgia, Exercise intolerance, Fatigue, Exertional dyspnea, Hypertrophic cardiom... |
ORPHA:368 |
Solitary Fibrous Tumor |
|
Neoplasia of the pleura, Neoplasm, Low back pain, Soft tissue neoplasm, Neoplasm of the liver, Ut... |
ORPHA:2126 |
Mirage Syndrome |
|
Aspiration pneumonia, Intracranial hemorrhage, Myelodysplasia, Petechiae, Patent ductus arteriosus |
OMIM:617053 |
Whipple Disease |
|
Myocarditis, Pleuritis, Hypotension, Respiratory insufficiency, Cough, Fatigue, Abdominal pain, G... |
ORPHA:3452 |
Hyperinsulinism Due To Insr Deficiency |
|
Fatigue |
ORPHA:263458 |
Liposarcoma |
|
Sarcoma, Fatigue, Abdominal pain, Varicose veins |
ORPHA:69078 |
Carney Triad |
|
Adrenocortical adenoma, Arrhythmia, Pheochromocytoma, Hypertension, Fatigue, Abdominal pain, Gast... |
ORPHA:139411 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Dyspnea, Neoplasm of the liver, Right ventricular failure, Bronchospasm, Palpitations, Facial tel... |
ORPHA:100085 |
Pulmonary Alveolar Microlithiasis |
|
Subpleural interstitial thickening, Hypoxemia, Respiratory failure, Pneumothorax, Oxygen desatura... |
ORPHA:60025 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Gingival bleeding, Abdominal pain, Bundle branch block, Arthralgia, Bradycardia, Epi... |
ORPHA:99827 |
Adult-Onset Still Disease |
|
Myocarditis, Pleuritis, Restrictive ventilatory defect, Fatigue, Abdominal pain, Arthralgia, Recu... |
ORPHA:829 |
Laubry-Pezzi Syndrome |
|
Dilatation of the sinus of Valsalva, Right ventricular outlet tract obstruction, Abnormal coronar... |
ORPHA:99094 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Pulmonary arterial hypertension, Dyspnea, Arterial intimal fibros... |
OMIM:178600 |
Stormorken Syndrome |
|
Subarachnoid hemorrhage, Epistaxis, Bruising susceptibility, Abnormal bleeding, Myalgia, Stroke-l... |
OMIM:185070 |
Idiopathic Hypereosinophilic Syndrome |
|
Raynaud phenomenon, Myeloproliferative disorder, Dyspnea, Cough, Intracranial hemorrhage, Pulmona... |
ORPHA:3260 |
Al Amyloidosis |
|
Abnormal EKG, Abnormal pulmonary interstitial morphology, Dyspnea, Reduced left ventricular eject... |
ORPHA:85443 |
Pseudo-Torch Syndrome 3 |
|
Respiratory insufficiency, Hypertension, Cerebral hemorrhage, Apnea |
OMIM:618886 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
Lethal Congenital Contracture Syndrome 5 |
|
Respiratory insufficiency, Retinal hemorrhage, Subdural hemorrhage |
OMIM:615368 |
Mucolipidosis Type Iii |
|
Fatigue |
ORPHA:577 |
X-Linked Sideroblastic Anemia |
|
Dyspnea, Fatigue |
ORPHA:75563 |
Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, First degree atrioventricular block, Elevated pulmonary artery p... |
OMIM:615344 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Prolonged prothrombin time, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopath... |
ORPHA:99901 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Renal neoplasm, Dyspnea, Atelectasis, Renal angiomyolipoma, Res... |
ORPHA:538 |
Propionic Acidemia |
|
Cardiomyopathy, Tachypnea, Cerebellar hemorrhage, Apnea |
OMIM:606054 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Dyspnea, Decreased DLCO, Restrictive ventilatory defect, Cough, Hypoxemia, Foam cells, Fatigue, C... |
ORPHA:747 |
Granulomatosis With Polyangiitis |
|
Pleuritis, Chronic pulmonary obstruction, Abdominal pain, Angina pectoris, Arthralgia, Epistaxis,... |
ORPHA:900 |
Myofibrillar Myopathy 11 |
|
Reduced forced vital capacity, Coarctation of aorta, Fatigue |
OMIM:619178 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloproliferative disorder, Myeloid leukemia, Hypotension, Chronic myelomonocytic leukemia, Chro... |
ORPHA:98849 |
Cardiogenic Shock |
|
Cardiac arrest, Abnormal EKG, ST segment elevation, Dyspnea, Mitral regurgitation, Hypotension, E... |
ORPHA:97292 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Gingival bleeding, Fatigue |
OMIM:618549 |
Medulloblastoma |
|
Medulloblastoma, Neoplasm of the lung, Cerebellar medulloblastoma, Spinal cord tumor, Adenomatous... |
ORPHA:616 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Arrhythmia, Cardiomyopathy, Exercise intolerance, Fatigue, Bradycardia, Myalgia |
OMIM:609286 |
Thyroid Hemiagenesis |
|
Umbilical hernia, Fatigue |
ORPHA:95719 |
Postpoliomyelitis Syndrome |
|
Pain, Respiratory insufficiency, Fatigue, Hypoventilation, Arthralgia, Myalgia |
ORPHA:2942 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Exercise-induced myalgia, Dyspnea, Palpitations, Exercise intolerance, Fatigue, Hypertrophic card... |
OMIM:618250 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Bowel incontinence, Atelectasis, Abnormal internal carotid artery morphology, Left ventricular ou... |
ORPHA:365 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypertrophic cardiomyopathy, Arrhythmia, Fatigue, Sudden cardiac death |
ORPHA:156 |
Insulinoma |
|
Pituitary prolactin cell adenoma, Palpitations, Fatigue, Neoplasm of the adrenal gland, Neuroendo... |
ORPHA:97279 |
Menkes Disease |
|
Intracranial hemorrhage |
OMIM:309400 |
Congenital Fibrinogen Deficiency |
|
Prolonged prothrombin time, Gingival bleeding, Abnormal umbilical stump bleeding, Bruising suscep... |
ORPHA:335 |
Postorgasmic Illness Syndrome |
|
Palpitations, Hypertension, Fatigue |
ORPHA:279947 |
Cronkhite-Canada Syndrome |
|
Neoplasm, Colon cancer, Fatigue, Abdominal pain, Stomach cancer, Hamartomatous polyposis, Gastroi... |
ORPHA:2930 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Fatigue, Recurrent upper respiratory tract infections |
ORPHA:589905 |
Lyme Disease |
|
Arrhythmia, Fatigue, Atrioventricular block, Arthralgia, Myalgia |
ORPHA:91546 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Verrucae, Cough, Fatigue, Sinusitis, Bronchiectasis |
ORPHA:33110 |
Riddle Syndrome |
|
Bronchitis, Chronic sinusitis, Restrictive ventilatory defect, Abdominal pain, Pulmonary fibrosis... |
ORPHA:420741 |
Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Fatigue |
OMIM:615767 |
Joubert Syndrome 14 |
|
Encephalocele, Meningocele, Intracranial hemorrhage, Hypertension |
OMIM:614424 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exercise-induced myalgia, Arrhythmia, Fatigue, Exertional dyspnea |
ORPHA:42 |
Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Abnormal EKG, Third heart sound, Systolic heart murmur, Wheezing, Tachyp... |
ORPHA:1329 |
Vexas Syndrome |
|
Night sweats, Fatigue, Myelodysplasia, Arteritis, Arthralgia |
OMIM:301054 |
Mast Cell Sarcoma |
|
Fatigue, Sarcoma |
ORPHA:66661 |
Rheumatoid Arthritis |
|
Vasculitis, Fatigue, Arthralgia |
OMIM:180300 |
Corticosteroid-Binding Globulin Deficiency |
|
Asthenia, Hypertension, Fatigue, Hypotension |
OMIM:611489 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage |
OMIM:251000 |
Barth Syndrome |
|
Arrhythmia, Exercise intolerance, Fatigue, Tricuspid regurgitation, Congestive heart failure, Inc... |
OMIM:302060 |
Leishmaniasis |
|
Night sweats, Fatigue, Arthralgia, Abnormal bleeding, Rhinitis |
ORPHA:507 |
Pulmonary Hypertension, Primary, 3 |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Dyspnea, Increased pulmonary... |
OMIM:615343 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatocellular carcinoma, Arrhythmia, Cardiomyopathy, Elevated jugular venous pressure, Fatigue, ... |
ORPHA:465508 |
Hermansky-Pudlak Syndrome |
|
Dyspnea, Squamous cell carcinoma of the skin, Bruising susceptibility, Cardiomyopathy, Fatigue, A... |
ORPHA:79430 |
Isolated Agammaglobulinemia |
|
Pneumonia, Recurrent respiratory infections, Fatigue, Sinusitis |
ORPHA:229717 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Fatigue |
OMIM:251950 |
Pfapa Syndrome |
|
Recurrent pharyngitis, Arthralgia, Fatigue, Abdominal pain |
ORPHA:42642 |
Arterial Tortuosity Syndrome |
|
Cardiac arrest, Myocarditis, Dyspnea, Aortic root aneurysm, Aortic aneurysm, Telangiectasia of th... |
ORPHA:3342 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... |
ORPHA:75565 |
Menkes Disease |
|
Venous insufficiency, Umbilical hernia, Exostoses, Intracranial hemorrhage, Abnormal carotid arte... |
ORPHA:565 |
Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Stroke, Pulmonary arterial hypertension, Retinal arterial occlusion, Abnormal jugula... |
ORPHA:464343 |
Alexander Disease |
|
Fatigue |
OMIM:203450 |
Idiopathic Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Dyspnea, Abnormal jugular vein morphology, Syncope, Palpitations... |
ORPHA:275766 |
Botulism |
|
Respiratory insufficiency, Arrhythmia, Fatigue, Abdominal pain |
ORPHA:1267 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary arterial hypertension, ... |
ORPHA:99050 |
Porphyria |
|
Chest pain, Hypertension, Fatigue, Abdominal pain |
ORPHA:738 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Gingival bleeding, Post-partum hemorrhage, Fatigue, Melena, Oral cavity bleeding |
ORPHA:98870 |
Absence Of The Pulmonary Artery |
|
Right aortic arch, Tetralogy of Fallot, Reduced left ventricular ejection fraction, Truncus arter... |
ORPHA:980 |
Poems Syndrome |
|
Pain, Hemangioma, Pulmonary arterial hypertension, Lymphoproliferative disorder, Restrictive vent... |
ORPHA:2905 |
Adiposis Dolorosa |
|
Bruising susceptibility, Fatigue, Arthralgia, Telangiectasia of the skin |
ORPHA:36397 |
Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... |
ORPHA:57777 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Fatigue |
OMIM:253601 |
Diffuse Alveolar Hemorrhage |
|
Increased DLCO, Dyspnea, Restrictive ventilatory defect, Cough, Pulmonary venous hypertension, Hy... |
ORPHA:90060 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Cardiomyopathy, Fatigue |
ORPHA:1215 |
Classic Homocystinuria |
|
Arteriovenous malformation, Intracranial hemorrhage, Hypertension, Pulmonary embolism, Gastrointe... |
ORPHA:394 |
Cerebral Visual Impairment |
|
Ischemic stroke, Intracranial hemorrhage |
ORPHA:447788 |
Iatrogenic Botulism |
|
Dyspnea, Fatigue, Orthostatic hypotension |
ORPHA:254509 |
Reynolds Syndrome |
|
Respiratory insufficiency, Mucosal telangiectasiae, Fatigue, Telangiectasia of the skin, Myalgia |
ORPHA:779 |
Congenital Tricuspid Stenosis |
|
Pulmonary arterial hypertension, Hypotension, Tricuspid regurgitation, Congestive heart failure, ... |
ORPHA:95459 |
Scimitar Syndrome |
|
Tetralogy of Fallot, Left superior vena cava draining to coronary sinus, Bronchogenic cyst, Pneum... |
ORPHA:185 |
X-Linked Agammaglobulinemia |
|
Neoplasm, Fatigue, Sinusitis, Recurrent pneumonia, Abnormal lung morphology |
ORPHA:47 |
Q Fever |
|
Myocarditis, Vasculitis, Cough, Night sweats, Fatigue, Respiratory distress, Purpura, Abnormal le... |
ORPHA:781 |
Proximal Spinal Muscular Atrophy |
|
Recurrent infections due to aspiration, Neonatal respiratory distress, Restrictive ventilatory de... |
ORPHA:70 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Fatigue |
ORPHA:314632 |
Immunodeficiency 70 |
|
Chronic fatigue, Verrucae, Recurrent sinusitis |
OMIM:618969 |
Congenital Disorder Of Glycosylation, Type It |
|
Prolonged prothrombin time, Pulmonary arterial hypertension, Dyspnea, Coarctation of aorta, Abort... |
OMIM:614921 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Pulmonary edema |
OMIM:178400 |
Athyreosis |
|
Fatigue |
ORPHA:95713 |
Spastic Paraplegia Type 2 |
|
Recurrent respiratory infections, Bowel incontinence, Pulmonary embolism |
ORPHA:99015 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Anal canal adenocarcinoma, Neoplasm of the liver, Chronic fatigue, Neopla... |
ORPHA:424016 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Moyamoya phenomenon |
ORPHA:401986 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Respiratory insufficiency, Intracranial hemorrhage, Capillary hemangioma, Interrupted aortic arch... |
ORPHA:163979 |
Macs Syndrome |
|
Bruising susceptibility, Aortic aneurysm, Umbilical hernia, Fatigue, Bronchiectasis, Dilation of ... |
OMIM:613075 |
Superficial Siderosis |
|
Subarachnoid hemorrhage, Arteriovenous malformation, Persistent bleeding after trauma, Internal h... |
ORPHA:247245 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Dyspnea, Hypertension, Pulmonary embolism, Fatigue, Respiratory tract infection, Abdominal pain, ... |
ORPHA:567546 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Retinal hemorrhage, Exercise intolerance, Subependymal nodules, Subdural hemorrhage |
ORPHA:25 |
Zygomycosis |
|
Myocarditis, Atelectasis, Abdominal pain, Pneumothorax, Epistaxis, Pain, Fatigue, Sinusitis, Hema... |
ORPHA:73263 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Neonatal respiratory distress, Polymicrogyria, Antenatal intracerebral hemorrhage, Respiratory in... |
OMIM:608836 |
Fabry Disease |
|
Dyspnea, Mitral regurgitation, Chronic pulmonary obstruction, Respiratory insufficiency, Telangie... |
ORPHA:324 |
Familial Cold Urticaria |
|
Myalgia, Arthralgia, Fatigue, Abdominal pain |
ORPHA:47045 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Fatigue |
OMIM:614831 |
Renal Nutcracker Syndrome |
|
Dilatation of mesenteric artery, Tachycardia, Syncope, Renal artery stenosis, Fatigue, Abdominal ... |
ORPHA:71273 |
Poliomyelitis |
|
Pain, Hypovolemic shock, Hypotension, Hypertension, Impairment of activities of daily living, Fat... |
ORPHA:2912 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Dyspnea, Arthralgia, Fatigue, Abdominal pain |
OMIM:615399 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bone pain, Chronic fatigue |
OMIM:610539 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Fatigue |
OMIM:618049 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Dyspnea, Syncope, Fatigue, Orthostatic syncope, Orthostatic hypotension, Rhinitis, ... |
ORPHA:230 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary artery dilatation, Pulmonary arterial hypertension, Tachypnea, Thoracic aortic aneurysm... |
OMIM:613834 |
Post-Traumatic Pituitary Deficiency |
|
Fatigue, Hypotension |
ORPHA:95619 |
Hypotonia-Cystinuria Syndrome |
|
Fatigue |
ORPHA:163690 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Snoring, Lower limb pain, Mitral regurgitation, Fatigue, Tricuspid regurgitation, Sinus bradycardia |
OMIM:261990 |
Stevens-Johnson Syndrome |
|
Recurrent respiratory infections, Dyspnea, Restrictive ventilatory defect, Cough, Abnormal pleura... |
ORPHA:36426 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Dyspnea, Mitral regurgitation, Aortic root aneurysm, Bruising susceptibility, Fatigue, Aortic reg... |
ORPHA:230851 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Vasculitis, Bone pain, Fatigue |
ORPHA:324964 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Fatigue, Bruising susceptibility |
ORPHA:98791 |
Glucocorticoid Resistance, Generalized |
|
Hypertension, Fatigue |
OMIM:615962 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic aortic arch, Tricuspid regurgitation, Paroxysmal dyspnea, Respiratory failure requiri... |
ORPHA:99125 |
Arachnoid Cyst |
|
Encephalocele, Subarachnoid hemorrhage, Lower limb pain, Neoplasm, Urinary incontinence, Abdomina... |
ORPHA:2356 |
Dopa-Responsive Dystonia |
|
Pain, Urinary incontinence, Fatigue |
ORPHA:255 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Chills, Myalgia, Fatigue, Arthralgia |
OMIM:120100 |
Nelson Syndrome |
|
Ocular pain, Pituitary corticotropic cell adenoma, Intracranial hemorrhage, Hypertension, Pituita... |
ORPHA:199244 |
Overhydrated Hereditary Stomatocytosis |
|
Pulmonary embolism, Fatigue |
OMIM:185000 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Fatigue |
ORPHA:171612 |
Behçet Disease |
|
Vasculitis, Pleuritis, Mitral regurgitation, Pulmonary embolism, Fatigue, Abdominal pain, Aortic ... |
ORPHA:117 |
Lead Poisoning |
|
Abnormal respiratory system physiology, Hypertension, Impairment of activities of daily living, F... |
ORPHA:330015 |
Alveolar Echinococcosis |
|
Epigastric pain, Low back pain, Dyspnea, Cough, Fatigue, Abdominal pain, Portal hypertension, Pul... |
ORPHA:284 |
Benign Recurrent Intrahepatic Cholestasis |
|
Hepatocellular carcinoma, Fatigue, Abdominal pain |
ORPHA:65682 |
Hennekam-Beemer Syndrome |
|
Hypotension, Respiratory insufficiency, Arrhythmia, Fatigue, Abdominal pain, Pneumonia, Telangiec... |
ORPHA:2135 |
Ileal Neuroendocrine Tumor |
|
Hypotension, Pulmonic stenosis, Episodic abdominal pain, Right ventricular failure, Palpitations,... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Hypotension, Pulmonic stenosis, Episodic abdominal pain, Right ventricular failure, Palpitations,... |
ORPHA:100077 |
Hepatocellular Carcinoma |
|
Venous insufficiency, Epigastric pain, Neoplasm, Constitutional symptom, Hypotension, Dyspnea, Bo... |
ORPHA:88673 |
Pulmonary Hypertension, Primary, 2 |
|
Abnormally loud pulmonic component of the second heart sound, Pulmonary arterial hypertension, In... |
OMIM:615342 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Aspiration pneumonia |
OMIM:616430 |
Myotonia Fluctuans |
|
Stridor, Myalgia, Fatigue, Apnea |
ORPHA:99734 |
Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Chronic fatigue, Abdominal pain, Spider hemangioma, Gastrointestinal he... |
ORPHA:2137 |
Congenital Isolated Acth Deficiency |
|
Fatigue, Hypotension |
ORPHA:199296 |
Tarp Syndrome |
|
Subdural hemorrhage, Neonatal death, Tetralogy of Fallot |
OMIM:311900 |
Gaisböck Syndrome |
|
Stroke, Epigastric pain, Dyspnea, Elevated diastolic blood pressure, Hypertension, Fatigue, Angin... |
ORPHA:90041 |
Amyotrophic Lateral Sclerosis |
|
Pain, Dyspnea, Abnormal respiratory system physiology, Fatigue, Respiratory failure |
ORPHA:803 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hypertension, Fatigue |
OMIM:615954 |
Mal De Débarquement |
|
Fatigue |
ORPHA:210272 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Testicular adrenal rest tumor, Intracranial hemorrhage, Hypertension |
ORPHA:90795 |
Familial Cerebral Cavernous Malformation |
|
Hemangioma, Neuroma, Cerebral hemorrhage, Meningioma, Choroidal hemangioma, Venous malformation |
ORPHA:221061 |
Toxic Epidermal Necrolysis |
|
Recurrent respiratory infections, Restrictive ventilatory defect, Cough, Abnormal pleura morpholo... |
ORPHA:537 |
Meningioma |
|
Trigeminal neuralgia, Ear pain, Intracranial meningioma, Abnormality on pulmonary function testin... |
ORPHA:2495 |
Immunodeficiency 58 |
|
Recurrent respiratory infections, Verrucae, Chronic pulmonary obstruction, Chronic bronchitis, Fa... |
OMIM:618131 |
Cinca Syndrome |
|
Purpura, Myalgia, Fatigue, Arthralgia |
ORPHA:1451 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiac arrest, Cardiomyopathy, Exercise intolerance, Fatigue |
OMIM:617713 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal hamartoma, Mandibular pain, Bone pain, Shortened QT interval, Fatigue, Fibroma, Pancreatic ... |
ORPHA:99880 |
Erdheim-Chester Disease |
|
Dyspnea, Cough, Bone pain, Fatigue, Abdominal pain, Pulmonary fibrosis, Congestive heart failure,... |
ORPHA:35687 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Myalgia, Congestive heart failure, Fatigue, Cardiomyopathy |
OMIM:619259 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Fatigue, Patent ductus arteriosus |
OMIM:617061 |
Parathyroid Carcinoma |
|
Renal hamartoma, Parathyroid carcinoma, Mandibular pain, Bone pain, Shortened QT interval, Fatigu... |
ORPHA:143 |
Glioblastoma |
|
Glioblastoma multiforme, Fatigue |
ORPHA:360 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent respiratory infections, Bronchitis, Lymphoma, Chronic sinusitis, Recurrent lower respir... |
ORPHA:183675 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Fatigue |
OMIM:613157 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage |
OMIM:618480 |
Selective Igm Deficiency |
|
Raynaud phenomenon, Recurrent respiratory infections, Verrucae, Chronic sinusitis, Chronic fatigu... |
ORPHA:331235 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Fatigue, Exertional dyspnea |
ORPHA:514 |
Secondary Intestinal Lymphangiectasia |
|
Lymphoma, Fatigue, Abdominal colic, B-cell lymphoma, Intestinal bleeding, Right ventricular failu... |
ORPHA:90363 |
Acute Adrenal Insufficiency |
|
Stroke, Hypotension, Fatigue, Abdominal pain, Recurrent acute respiratory tract infection, Arthra... |
ORPHA:95409 |
Goodpasture Syndrome |
|
Hemosiderin-laden macrophages in bronchoalveolar fluid, Increased DLCO, Reticular pattern on pulm... |
OMIM:233450 |
Listeriosis |
|
Myocarditis, Stroke, Fatigue, Abdominal pain, Respiratory distress, Congestive heart failure, Chi... |
ORPHA:533 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatocellular carcinoma, Hepatocellular adenoma, Cardiomyopathy, Exercise intolerance, Fatigue, ... |
ORPHA:370 |
Nocardiosis |
|
Ocular pain, Pleuritis, Dyspnea, Productive cough, Nonproductive cough, Night sweats, Fatigue, Re... |
ORPHA:31204 |
Primary Sjögren Syndrome |
|
Raynaud phenomenon, Bronchitis, Vasculitis, Lymphoma, Lymphoproliferative disorder, Usual interst... |
ORPHA:289390 |
Neuroleptic Malignant Syndrome |
|
Aspiration pneumonia, Hypotension, Arrhythmia, Urinary incontinence, Hypertension, Rigors, Fatigu... |
ORPHA:94093 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Stroke, Pulmonary arterial hypertension, Subdural hemorrhage, Pulmonary embolism, Respiratory dis... |
ORPHA:79282 |
Bone Marrow Failure Syndrome 6 |
|
Squamous cell carcinoma of the tongue, Myalgia, Chronic fatigue, Recurrent sinusitis |
OMIM:618849 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Fatigue |
ORPHA:263455 |
Hutchinson-Gilford Progeria Syndrome |
|
Raynaud phenomenon, Hip pain, Pulmonary arterial hypertension, Stroke, Mitral regurgitation, Caro... |
ORPHA:740 |
Loeys-Dietz Syndrome 3 |
|
Arterial tortuosity, Tortuous cerebral arteries, Pneumothorax, Atrial fibrillation, Subarachnoid ... |
OMIM:613795 |
Congenital Analbuminemia |
|
Low pulse pressure, Recurrent lower respiratory tract infections, Fatigue |
ORPHA:86816 |
Acute Liver Failure |
|
Prolonged prothrombin time, Abnormal respiratory system physiology, Hypotension, Bruising suscept... |
ORPHA:90062 |
Cyclic Neutropenia |
|
Bone pain, Fatigue, Respiratory tract infection, Abdominal pain, Sinusitis |
ORPHA:2686 |
Eosinophilic Fasciitis |
|
Myalgia, Fatigue, Arthralgia |
ORPHA:3165 |
Kawasaki Disease |
|
Myocarditis, Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defec... |
ORPHA:2331 |
Cystinosis |
|
Portal hypertension, Fatigue |
ORPHA:213 |
Shigellosis |
|
Myocarditis, Hypovolemic shock, Fatigue, Abdominal pain, Purpura, Pneumonia, Asthenia, Abdominal ... |
ORPHA:810 |
Aregenerative Anemia |
|
Dyspnea, Fatigue, Bruising susceptibility, Abnormal bleeding |
ORPHA:101096 |
Castleman Disease |
|
Dyspnea, Constitutional symptom, Cough, Fatigue, Abdominal pain, Restrictive cardiomyopathy, Flan... |
ORPHA:160 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Prolonged prothrombin time, Intraventricular hemorrhage, Neonatal death |
OMIM:619055 |
Tuberous Sclerosis Complex |
|
Subependymal nodules, Respiratory failure, Retinal hamartoma, Angiofibromas, Renal angiomyolipoma... |
ORPHA:805 |
Igg4-Related Retroperitoneal Fibrosis |
|
Pain, Low back pain, Large vessel vasculitis, Hypertension, Fatigue, Abdominal pain, Renovascular... |
ORPHA:49041 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cervical myelopathy, Bradypnea, Fatigue, Myelopathy, Respiratory failure |
OMIM:617186 |
Cystic Echinococcosis |
|
Epigastric pain, Fatigue, Pulmonary cyst, Abnormal subpleural morphology, Multiple pulmonary cyst... |
ORPHA:400 |
Herpes Simplex Virus Encephalitis |
|
Chills, Fatigue, Respiratory failure requiring assisted ventilation |
ORPHA:1930 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Antenatal intracerebral hemorrhage, Bruising susceptibility, Subdural hemorrhage, Aortic aneurysm... |
ORPHA:536545 |
Hyperprolinemia Type 2 |
|
Myalgia, Chronic fatigue, Exercise intolerance, Abdominal pain |
ORPHA:79101 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Bronchiolitis obliterans organizing pneumonia, Foam cells, Fa... |
OMIM:619802 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Fatigue, Hypertrophic cardiomyopathy |
OMIM:607426 |
Osteopetrosis, Autosomal Dominant 3 |
|
Asthenia, Fatigue |
OMIM:618107 |
Pituicytoma |
|
Fatigue |
ORPHA:251623 |
Vipoma |
|
Benign gastrointestinal tract tumors, Hematochezia, Adrenocortical adenoma, Neoplasm of the liver... |
ORPHA:97282 |
Becker Muscular Dystrophy |
|
Myalgia, Exercise intolerance, Fatigue |
ORPHA:98895 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Stridor, Fatigue |
ORPHA:352649 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Prolonged prothrombin time, Hypotension, Fatigue, Apnea, Dilated cardiomyopathy, ... |
ORPHA:20 |
Glycogen Storage Disease Ixa1 |
|
Fatigue |
OMIM:306000 |
Chikungunya |
|
Raynaud phenomenon, Gingival bleeding, Epistaxis, Shoulder pain, Fatigue, Chills, Arthralgia, Abn... |
ORPHA:324625 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatocellular adenoma, Cardiomyopathy, Exercise intolerance, Fatigue, Myalgia |
ORPHA:264580 |
Pediatric Hepatocellular Carcinoma |
|
Epigastric pain, Fatigue, Abdominal pain |
ORPHA:33402 |
Pituitary Apoplexy |
|
Trigeminal neuralgia, Hypotension, Hypertension, Fatigue, Pituitary adenoma |
ORPHA:95613 |
Genetic Hyperferritinemia Without Iron Overload |
|
Fatigue, Arthralgia |
ORPHA:254704 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Reduced left ventricular ejection fraction, Respiratory insufficiency, Arrhythmia, Palpitations, ... |
ORPHA:254892 |
Cold Agglutinin Disease |
|
Fatigue, Arthralgia, Back pain |
ORPHA:56425 |
Phace Syndrome |
|
Coarctation of aorta, Aortic root aneurysm, Tetralogy of Fallot, Abnormal carotid artery morpholo... |
ORPHA:42775 |
Coccidioidomycosis |
|
Vasculitis, Cough, Fatigue, Vasospasm, Respiratory distress, Pleural empyema, Cerebral ischemia, ... |
ORPHA:228123 |
Brucellosis |
|
Myocarditis, Bronchitis, Pulmonary granulomatosis, Lung abscess, Pleural effusion, Fatigue, Abdom... |
ORPHA:1304 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Fatigue |
OMIM:274300 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Sleep apnea, Encopresis, Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:616682 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Recurrent lower respiratory tract infections, Abdominal pain, Arthralgia, Int... |
OMIM:226300 |
Late-Onset Isolated Acth Deficiency |
|
Hypotension, Fatigue, Abdominal pain, Arthralgia, Orthostatic hypotension, Pituitary adenoma |
ORPHA:199299 |
Loeys-Dietz Syndrome 6 |
|
Vertebral artery aneurysm, Thoracic aortic aneurysm, Chronic fatigue, Varicose veins, Carotid art... |
OMIM:619656 |
Gitelman Syndrome |
|
Ventricular tachycardia, Hypotension, Palpitations, Fatigue, Abdominal pain, Arthralgia, Prolonge... |
OMIM:263800 |
Primary Sclerosing Cholangitis |
|
Hepatocellular carcinoma, Prolonged prothrombin time, Fatigue, Abdominal pain, Dilated superficia... |
ORPHA:171 |
Xeroderma Pigmentosum |
|
Neoplasm, Melanoma, Papilloma, Fatigue, Telangiectasia, Arthralgia, Telangiectasia of the skin, N... |
ORPHA:910 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Bone pain, Fatigue, Abnormal p... |
ORPHA:77261 |
Inhalational Botulism |
|
Dyspnea, Fatigue |
ORPHA:254504 |
Papa Syndrome |
|
Fatigue, Arthralgia |
ORPHA:69126 |
Osteogenesis Imperfecta |
|
Trigeminal neuralgia, Neonatal respiratory distress, Aortic root aneurysm, Bruising susceptibilit... |
ORPHA:666 |
Muckle-Wells Syndrome |
|
Myalgia, Chronic fatigue, Arthralgia |
OMIM:191900 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Low back pain, Fatigue, Acute myeloid leukemia |
ORPHA:86843 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
Somatostatinoma |
|
Adrenocortical adenoma, Neoplasm of the pancreas, Chronic fatigue, Medullary thyroid carcinoma, G... |
ORPHA:97283 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hypotension, Fatigue, Recurrent pneumonia, Bronchiectasis, Recurrent upper respiratory tract infe... |
ORPHA:293978 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Myalgia, Fatigue |
ORPHA:98673 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage |
ORPHA:79284 |
New-Onset Refractory Status Epilepticus |
|
Fatigue |
ORPHA:363558 |
Gamma-Heavy Chain Disease |
|
Recurrent respiratory infections, Neoplasm of the tongue, Fatigue |
ORPHA:100026 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Fatigue |
OMIM:616355 |
Japanese Encephalitis |
|
Rigors, Fatigue, Abdominal pain, Irregular respiration, Respiratory distress, Pulmonary edema, Ch... |
ORPHA:79139 |
Cockayne Syndrome Type 3 |
|
Stroke, Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Cardiomyopathy, Premat... |
ORPHA:90324 |
Dubin-Johnson Syndrome |
|
Fatigue, Abdominal pain |
ORPHA:234 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Recurrent respiratory infections, Osteoma, Rib exostoses, Internal carotid artery dissection, Sca... |
OMIM:150230 |
Fixed Drug Eruption |
|
Chills, Fatigue |
ORPHA:293812 |
Angiostrongyliasis |
|
Pain, Neck pain, Fatigue, Abdominal pain, Arthralgia, Myalgia |
ORPHA:74 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension, Fatigue |
ORPHA:98808 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal T-wave, Tachypnea, Hypotension, Sinus tachycardia, Abnormal pulse pressure, Fatigue, ST ... |
ORPHA:466650 |
Arachnoiditis |
|
Fatigue, Arthralgia |
ORPHA:137817 |
Dpagt1-Cdg |
|
Pulmonary hypoplasia, Intracranial hemorrhage, Prolonged QT interval, Stroke-like episode |
ORPHA:86309 |
Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Respiratory insufficiency due to muscle weakness, Respiratory failure, Res... |
ORPHA:273 |
Satoyoshi Syndrome |
|
Fatigue |
OMIM:600705 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Pleuritis, Dyspnea, Hypertension, Fatigue, Abdominal pain, Respiratory tract infecti... |
ORPHA:544482 |
Familial Glucocorticoid Deficiency |
|
Testicular adrenal rest tumor, Hypotension, Episodic abdominal pain, Chronic fatigue, Leydig cell... |
ORPHA:361 |
Creatine Phosphokinase, Elevated Serum |
|
Myalgia, Fatigue |
OMIM:123320 |
Acute Transverse Myelitis |
|
Subarachnoid hemorrhage, Urinary incontinence, Hypertension, Fatigue, Orthostatic hypotension, Ba... |
ORPHA:139417 |
Familial Pancreatic Carcinoma |
|
Melanoma, Neoplasm of the liver, Colon cancer, Breast carcinoma, Chronic fatigue, Abdominal pain,... |
ORPHA:1333 |
Viss Syndrome |
|
Left aortic arch with retroesophageal right subclavian artery, Arterial tortuosity, Tortuous cere... |
OMIM:619472 |
Sturge-Weber Syndrome |
|
Stroke, Abnormal cerebral vascular morphology, Pulmonary embolism, Capillary hemangioma, Visceral... |
ORPHA:3205 |
Kikuchi-Fujimoto Disease |
|
Myocarditis, Vasculitis, Pleural effusion, Night sweats, Fatigue, Chills, Arthralgia, Vasculitis ... |
ORPHA:50918 |
Dehydrated Hereditary Stomatocytosis |
|
Pulmonary venous hypertension, Abdominal pain, Episodic fatigue |
ORPHA:3202 |
Klatskin Tumor |
|
Fatigue, Abdominal pain, Cholangiocarcinoma |
ORPHA:99978 |
Gaucher Disease |
|
Pulmonary arterial hypertension, Gingival bleeding, Respiratory insufficiency, Bone pain, Fatigue... |
ORPHA:355 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Respiratory tract infection, Pulmonary embolism, Abdominal pain |
ORPHA:567548 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage |
ORPHA:91350 |
Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Fatigue |
ORPHA:521 |
Angioosteohypertrophic Syndrome |
|
Peripheral arteriovenous fistula, Venous insufficiency, Cavernous hemangioma, Bone pain, Pulmonar... |
ORPHA:2346 |
Hydranencephaly |
|
Antenatal intracerebral hemorrhage, Abnormal cerebral artery morphology, Dilatation of the ventri... |
ORPHA:2177 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hemangioma, Recurrent respiratory infections, Tracheomalacia, Melanoma, Pulmonic stenosis, Spina ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hemangioma, Recurrent respiratory infections, Tracheomalacia, Melanoma, Pulmonic stenosis, Spina ... |
ORPHA:363958 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Exercise intolerance, Fatigue |
OMIM:613077 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Intraventricular hemorrhage |
OMIM:613603 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatocellular carcinoma, Hepatocellular adenoma, Exercise intolerance, Fatigue, Myalgia |
ORPHA:79240 |
Primary Biliary Cholangitis |
|
Hepatocellular carcinoma, Portal hypertension, Fatigue, Orthostatic hypotension |
ORPHA:186 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Repeated pneumothoraces, Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Descending aortic ... |
OMIM:130050 |
Classical Ehlers-Danlos Syndrome |
|
Mitral regurgitation, Aortic root aneurysm, Bruising susceptibility, Umbilical hernia, Fatigue, A... |
ORPHA:287 |
Atypical Juvenile Parkinsonism |
|
Fatigue |
ORPHA:391411 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Fatigue |
OMIM:241150 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Bone pain, Fatigue |
ORPHA:89937 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Umbilical hernia, Fatigue, Back pain |
OMIM:619234 |
Lymphatic Filariasis |
|
Pain, Restrictive ventilatory defect, Cough, Fatigue, Lymphangiectasis, Abnormal lung morphology,... |
ORPHA:2035 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia, Umbilical hernia, Fatigue |
ORPHA:90674 |
Osteogenesis Imperfecta, Type Xvii |
|