Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Chronic fatigue, Dyspnea, Pulmonary capillary hemangiomatosis, Cough,... |
OMIM:234810 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
Familial Atrial Fibrillation |
|
Exercise intolerance, Fatigue, Atrial fibrillation, Myocardial infarction, Dyspnea, Syncope, Ches... |
ORPHA:334 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage, Respiratory insufficiency |
OMIM:215550 |
Heparin-Induced Thrombocytopenia |
|
Myocardial infarction, Pulmonary embolism, Abnormal onset of bleeding, Stroke, Cerebral ischemia |
ORPHA:3325 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... |
ORPHA:99105 |
Antithrombin Iii Deficiency |
|
Arterial occlusion, Pulmonary embolism |
OMIM:613118 |
Tuberculosis |
|
Fatigue, Abnormal lung morphology, Cough |
ORPHA:3389 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... |
ORPHA:36382 |
Pontiac Fever |
|
Fatigue, Myalgia, Cough |
ORPHA:99748 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Bone pain, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingiva... |
ORPHA:79 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Fatigue, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart murmu... |
ORPHA:422 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
Periventricular Nodular Heterotopia 1 |
|
Cerebral hemorrhage, Patent ductus arteriosus, Abnormality of neuronal migration, Gray matter het... |
OMIM:300049 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Erythrocytosis, Familial, 2 |
|
Fatigue, Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertensio... |
OMIM:263400 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... |
OMIM:202400 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
Snakebite Envenomation |
|
Abnormal bleeding, Pain, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intrac... |
ORPHA:449285 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Fatigue, Congestive heart failure, Respiratory failure, Abdominal pain |
OMIM:616794 |
Congenital Heart Block |
|
Fatigue, Exercise intolerance, First degree atrioventricular block, Gallop rhythm, Crackles, Cong... |
ORPHA:60041 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Respiratory tract infection, Neonatal respiratory distress, Fatigue, Respiratory insufficiency |
OMIM:616326 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Fatigue, Aspiration pneumonia |
OMIM:619477 |
Atrial Standstill |
|
Fatigue, Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive... |
ORPHA:1344 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Neoplasm, Macular purpura, Gangrene, ... |
ORPHA:49566 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Hematological neoplasm, Gastrointes... |
ORPHA:99147 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Macrophagic Myofasciitis |
|
Fatigue, Arthralgia, Myalgia |
ORPHA:592 |
Aspergillosis |
|
Sinusitis, Pneumonia, Hematological neoplasm, Dyspnea, Asthma, Chronic pulmonary obstruction, Abn... |
ORPHA:1163 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Fatigue, Abdominal ... |
ORPHA:563 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Fatigue, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary ... |
ORPHA:729 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Arterial stenosis, I... |
ORPHA:136 |
Takayasu Arteritis |
|
Fatigue, Gangrene, Myocardial infarction, Vascular dilatation, Vasculitis, Arterial stenosis, Hyp... |
ORPHA:3287 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Abnormality of... |
ORPHA:284227 |
Non-Functioning Paraganglioma |
|
Fatigue, Paraganglioma of head and neck, Cerebral hemorrhage, Congestive heart failure, Episodic ... |
ORPHA:94080 |
Polymyositis |
|
Gastrointestinal hemorrhage, Fatigue, Pericarditis, Abnormal atrioventricular conduction, Myocard... |
ORPHA:732 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Mantle Cell Lymphoma |
|
Fatigue, B-cell lymphoma |
ORPHA:52416 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Fatigue, Prolonged bleeding time, Recurrent respiratory infections, Acute leukemia, Intracranial ... |
ORPHA:3226 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Fatigue, Exercise intolerance, Dyspnea, Congestive heart failure, Dilated cardiomyopathy, Hyperte... |
ORPHA:1349 |
Erythrocytosis, Familial, 1 |
|
Fatigue, Cerebral hemorrhage, Myocardial infarction, Hypertension, Exertional dyspnea |
OMIM:133100 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Pulmonary Hypertension, Primary, 5 |
|
Fatigue, Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Ex... |
OMIM:265400 |
Refractory Anemia |
|
Abnormal bleeding, Fatigue, Abnormal cardiac ventricular function, Single lineage myelodysplasia,... |
ORPHA:98826 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Primary Familial Polycythemia |
|
Abnormal bleeding, Fatigue, Epistaxis, Abdominal pain, Dyspnea, Arthralgia, Cough, Exertional dys... |
ORPHA:90042 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Fatigue, Anomalous pulmonary venous return, Presyncope, Exertional dyspnea, ... |
ORPHA:99104 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
Typhoid |
|
Gastrointestinal hemorrhage, Fatigue, Epistaxis, Cardiac arrest, Abdominal pain, Abnormal pulmona... |
ORPHA:99745 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... |
ORPHA:853 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Fatigue, Myelodysplasia, Dyspnea, Acute leukemia, Bruising susceptibility |
ORPHA:231401 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Fatigue, Precocious atherosclerosis, Spina bifida occulta, Arthralgi... |
ORPHA:230839 |
Spinal Arteriovenous Metameric Syndrome |
|
Fatigue, Congestive heart failure, Cutaneous angiolipomas, Visceral angiomatosis, Bone pain, Spin... |
ORPHA:53721 |
Analbuminemia |
|
Fatigue, Recurrent lower respiratory tract infections, Patent ductus arteriosus, Hypotension |
OMIM:616000 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... |
ORPHA:465 |
Acute Interstitial Pneumonia |
|
Crackles, Nodular pattern on pulmonary HRCT, Nonproductive cough, Tachypnea, Arthralgia, Decrease... |
ORPHA:79126 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Transient ischemic attack, Intracranial hemorrhage, Stroke, Constitutional s... |
ORPHA:140989 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Abdominal pain, Inflammatory arteriopathy, Permanent ... |
ORPHA:31825 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... |
ORPHA:91387 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis... |
ORPHA:494424 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
Systemic Capillary Leak Syndrome |
|
Fatigue, Pericarditis, Pulmonary edema, Constitutional symptom, Abdominal pain, Myocarditis, Card... |
ORPHA:188 |
Capillary Malformation-Arteriovenous Malformation |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... |
ORPHA:137667 |
Schnitzler Syndrome |
|
Fatigue, Vasculitis, Bone pain, Lymphoma, Arthralgia, Myalgia |
ORPHA:37748 |
Hughes-Stovin Syndrome |
|
Fatigue, Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Ch... |
ORPHA:228116 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Cerebral hemorrhage, Patent ductus arteriosus, Respiratory i... |
OMIM:617397 |
Adiposis Dolorosa |
|
Fatigue, Arthralgia, Chronic pain, Painful subcutaneous lipomas |
OMIM:103200 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Pulmonary... |
ORPHA:90308 |
Nipah Virus Disease |
|
Respiratory distress, Fatigue, Recurrent pharyngitis, Myalgia, Hypotension, Cough |
ORPHA:99825 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Abdominal pain, Cardiorespiratory ar... |
ORPHA:99828 |
Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Parkes Weber Syndrome |
|
Back pain, Cerebral arteriovenous malformation, Spinal arteriovenous malformation, Abnormal bleed... |
ORPHA:90307 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Fatigue, Pain, Epistaxis, Intracranial hemorrhage, Oral cavity bleed... |
ORPHA:324636 |
Babesiosis |
|
Fatigue, Myocardial infarction, Congestive heart failure, Recurrent pharyngitis, Respiratory insu... |
ORPHA:108 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Ear pain, Subdur... |
ORPHA:97339 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... |
ORPHA:624 |
Idiopathic Pulmonary Hemosiderosis |
|
Fatigue, Crackles, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HRCT, Dyspnea, Heart... |
ORPHA:99931 |
Ebstein Malformation Of The Tricuspid Valve |
|
Fatigue, Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Patent ductus arter... |
ORPHA:1880 |
Liddle Syndrome |
|
Fatigue, Hypertension, Arrhythmia, Cerebral ischemia |
ORPHA:526 |
Neurocutaneous Melanocytosis |
|
Meningocele, Abnormality of neuronal migration, Intracranial hemorrhage, Melanoma, Neoplasm |
ORPHA:2481 |
Undifferentiated Pleomorphic Sarcoma |
|
Fatigue, Soft tissue sarcoma |
ORPHA:2023 |
Sengers Syndrome |
|
Fatigue, Exercise intolerance, Cardiac arrest, Sudden cardiac death, Respiratory insufficiency, P... |
OMIM:212350 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hemangioma |
ORPHA:398189 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Intracranial hemorrhage, Neoplasm, Internal hemorrhage, Fatigue, Prolonged bleeding ti... |
ORPHA:906 |
Congenital Gerbode Defect |
|
Fatigue, Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Crackles, ... |
ORPHA:99095 |
Chronic Beryllium Disease |
|
Fatigue, Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality o... |
ORPHA:133 |
Evans Syndrome |
|
Fatigue, Epistaxis, Dyspnea, Syncope, Bruising susceptibility, Petechiae |
ORPHA:1959 |
Sneddon Syndrome |
|
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
Tremor, Hereditary Essential, 2 |
|
Fatigue |
OMIM:602134 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... |
ORPHA:53719 |
Loeffler Endocarditis |
|
Aortic regurgitation, Fatigue, Pericarditis, Left ventricular diastolic dysfunction, Congestive h... |
ORPHA:75566 |
Laryngeal Neuroendocrine Tumor |
|
Chronic fatigue, Neuroendocrine neoplasm, Neoplasm of the larynx, Exertional dyspnea |
ORPHA:100083 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis, Secretory adrenocortical adenoma |
ORPHA:403 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Recurrent sinopulmonary infections, Subarachnoid hemorrhage, Asthma, Recurre... |
OMIM:243700 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Fatigue, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wh... |
ORPHA:1302 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... |
ORPHA:280679 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Pulmonary embolism |
OMIM:612336 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Fatigue, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Cong... |
ORPHA:276621 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Acquired Methemoglobinemia |
|
Respiratory distress, Fatigue, Tachycardia, Abdominal pain, Dyspnea, Hypoxemia, Syncope, Palpitat... |
ORPHA:464453 |
Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Fatigue, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Abdominal p... |
ORPHA:520 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Congestive hear... |
ORPHA:3092 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis, Secretory adrenocortical adenoma |
ORPHA:404 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Fatigue, Lymphoma, B-cell lymphoma, Breast carcinoma |
ORPHA:86893 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... |
ORPHA:464321 |
Follicular Lymphoma |
|
Fatigue, Pleural effusion, Lymphoma, Night sweats |
ORPHA:545 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Acute myeloid leukemia, Fatigue, Single lineage myelodysplasia, Bone pain, Ret... |
ORPHA:86839 |
Lymphoid Interstitial Pneumonia |
|
Fatigue, Multiple pulmonary cysts, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Respiratory t... |
ORPHA:79128 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Fatigue... |
ORPHA:29072 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Back pain, Intracranial hemorrhage, Cough, Ecchymosis, Chills, Internal hem... |
ORPHA:340 |
Rhabdoid Tumor |
|
Renal neoplasm, Abdominal pain, Respiratory insufficiency, Neoplasm of the central nervous system... |
ORPHA:69077 |
Pulmonary Arteriovenous Malformation |
|
Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart mu... |
ORPHA:2038 |
Epiphyseal Dysplasia, Multiple, 2 |
|
Fatigue, Knee pain, Foot pain |
OMIM:600204 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar... |
OMIM:175050 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... |
OMIM:171420 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Exercise intolerance, Epidural hemorrhage, Epistaxis, Dyspnea, Abnormal lung m... |
ORPHA:464329 |
Spontaneous Periodic Hypothermia |
|
Fatigue, Arrhythmia, Abnormal pattern of respiration |
ORPHA:29822 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Isolated Right Ventricular Hypoplasia |
|
Fatigue, Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure... |
ORPHA:439 |
Hellp Syndrome |
|
Back pain, Fatigue, Shoulder pain, Cerebral hemorrhage, Abdominal pain, Prolonged prothrombin tim... |
ORPHA:244242 |
Inhalational Anthrax |
|
Respiratory distress, Fatigue, Dyspnea, Hypotension, Internal hemorrhage |
ORPHA:247257 |
Rheumatic Fever |
|
Fatigue, Pericarditis, Sinusitis, Epistaxis, Abnormal pleura morphology, Abdominal pain, Myocardi... |
ORPHA:3099 |
Thymic Carcinoma |
|
Fatigue, Neoplasm of the thymus, Dyspnea, Chest pain, Cough, Abnormal vena cava morphology |
ORPHA:99868 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Fatigue, Tachycardia, Lymphoproliferative disorder, Congestive heart failure, Chronic lymphatic l... |
ORPHA:90033 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Neoplasm, Pheo... |
OMIM:171300 |
Cholangiocarcinoma |
|
Fatigue, Abdominal pain |
ORPHA:70567 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Fatigue, Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Pleural effusion, Respir... |
ORPHA:542323 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Fatigue, Portal hypertension, Abdominal pain, Bone pain, Multiple li... |
ORPHA:1414 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Fatigue, Epistaxis, Congestive heart failure, Monoclonal immunoglobu... |
ORPHA:33226 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Fatigue, Pericarditis, B-cell lymphoma, Myocardial infarction, Abdom... |
ORPHA:91139 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Fatigue, Myelodysplasia, Stroke, Cerebral ischemia |
ORPHA:927 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Fatigue, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Sinusitis, Myocardial in... |
ORPHA:183 |
Alpha-2-Plasmin Inhibitor Deficiency |
|
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax |
OMIM:262850 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Angina pectoris, Visceral angiomatosis, Lymphoma, Telangiectasia,... |
ORPHA:109 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Emphysema, Pulmonary carcinoid tumor, Intracranial hemorrhage, Hyperten... |
ORPHA:363618 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Neoplasm of the adrenal gland, Intracranial hemorrhage, Hypertension, Palpitations, Ab... |
ORPHA:231625 |
Classic Hodgkin Lymphoma |
|
Fatigue, Lymphoma, Bone pain, Respiratory insufficiency, Neoplasm, Chest pain, Cough |
ORPHA:391 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Fatigue |
OMIM:618573 |
Relapsing Fever |
|
Abnormal bleeding, Fatigue, Tachycardia, Epistaxis, Abdominal pain, Prolonged prothrombin time, A... |
ORPHA:91547 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Fatigue, Tachycardia, Lymphoma, Arthralgia, Exertional dyspnea |
ORPHA:90036 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1345 |
Kaposi Sarcoma |
|
Fatigue, Lymphoproliferative disorder, Venous insufficiency, Neoplasm by anatomical site, Abnorma... |
ORPHA:33276 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Hemochromatosis, Type 4 |
|
Fatigue, Cardiomyopathy, Arrhythmia, Arthralgia |
OMIM:606069 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Flank pain, Tachypnea, Cough,... |
ORPHA:90068 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fatigue |
ORPHA:79299 |
Avian Influenza |
|
Respiratory distress, Fatigue, Pneumonia, Productive cough, Abdominal pain, Congestive heart fail... |
ORPHA:454836 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Fatigue, Myelodysplasia, Night sweats, Multiple lineage myelodysplasia |
ORPHA:98827 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Gangrene, Purpura |
ORPHA:745 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Fatigue, Reduced vital capacity, Cardiac shunt, Right ventricular failure, Pulmonary embolism, In... |
ORPHA:70591 |
Portal Hypertension, Noncirrhotic, 2 |
|
Fatigue, Epistaxis, Portal hypertension, Ecchymosis, Petechiae |
OMIM:619463 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Fatigue, Exercise intolerance, Dyspnea, Heart murmur, Myalgia, Hypertrophic cardiomyopathy |
OMIM:615418 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Myalg... |
OMIM:620300 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Fatigue |
ORPHA:79283 |
Autoinflammation With Infantile Enterocolitis |
|
Fatigue, Arthralgia, Myalgia, Diffuse alveolar hemorrhage |
OMIM:616050 |
Fetal Gaucher Disease |
|
Intracranial hemorrhage, Stillbirth, Neonatal death |
ORPHA:85212 |
Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Primary Myelofibrosis |
|
Abnormal bleeding, Fatigue, Portal hypertension, Hematological neoplasm, Flank pain, Constitution... |
ORPHA:824 |
Legionnaires Disease |
|
Fatigue, Pericarditis, Abnormal pleura morphology, Abdominal pain, Myocarditis, Abnormal lung mor... |
ORPHA:549 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Gangrene, Subcut... |
ORPHA:743 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Exercise intolerance, Chronic fatigue, Respiratory insufficiency due to mus... |
ORPHA:254875 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory insufficiency due to muscle weakness, Perisylvian polymicrogyria, Subd... |
OMIM:618291 |
Hemochromatosis, Type 3 |
|
Fatigue, Cardiomyopathy, Purpura |
OMIM:604250 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Dyspnea, Pulmonary capil... |
ORPHA:199241 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Fatigue, Myocarditis, Dyspnea... |
ORPHA:809 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Fatigue, Portal hypertension, Hematological neoplasm, Abdominal pain... |
ORPHA:98850 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Fatigue, Telangiectasia of the skin, Myocardial infarction, Abdomina... |
ORPHA:679 |
Granulomatosis With Polyangiitis |
|
Fatigue, Sinusitis, Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrha... |
OMIM:608710 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Renal neoplasm, Pancreatic adenocarcinoma, Glioblastoma multiforme, ... |
ORPHA:440437 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Fatigue, Angina pectoris, Telangi... |
ORPHA:93672 |
Giant Cell Arteritis |
|
Fatigue, Pericarditis, Aortic dissection, Gangrene, Epistaxis, Sudden cardiac death, Abnormal ple... |
ORPHA:397 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Juvenile Polyposis Syndrome |
|
Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformation, Hamartomatous polyposis... |
ORPHA:2929 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension... |
OMIM:300845 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Fatigue, Congestive heart failure, Tachycardia, Exertional dyspnea |
ORPHA:90037 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:251274 |
Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Supraventricular tachycardi... |
ORPHA:97214 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Exercise ... |
OMIM:232300 |
Methylmalonic Acidemia With Homocystinuria |
|
Fatigue |
ORPHA:26 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fatigue, Tachycardia |
ORPHA:276608 |
Familial Isolated Restrictive Cardiomyopathy |
|
Orthopnea, Recurrent respiratory infections, Tricuspid regurgitation, Atrial fibrillation, Suprav... |
ORPHA:75249 |
Dermatomyositis |
|
Myocardial infarction, Neoplasm, Arthralgia, Fatigue, Vasculitis, Respiratory insufficiency, Pulm... |
ORPHA:221 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... |
ORPHA:369929 |
Hypophosphatasia, Infantile |
|
Intracranial hemorrhage, Recurrent respiratory infections, Stillbirth, Apnea |
OMIM:241500 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... |
OMIM:177850 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Fatigue, Exercise intolerance, Tachycardia, Exercise-induced myalgia, Postexertional symptom exac... |
ORPHA:368 |
Mirage Syndrome |
|
Myelodysplasia, Patent ductus arteriosus, Intracranial hemorrhage, Aspiration pneumonia, Petechiae |
OMIM:617053 |
Carney Triad |
|
Gastrointestinal hemorrhage, Fatigue, Tachycardia, Abdominal pain, Gastrointestinal stroma tumor,... |
ORPHA:139411 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Fatigue, Pericarditis, Myocardial infarction, Abdominal pain, Myocar... |
ORPHA:3452 |
Hyperinsulinism Due To Insr Deficiency |
|
Fatigue |
ORPHA:263458 |
Liposarcoma |
|
Fatigue, Varicose veins, Abdominal pain, Sarcoma |
ORPHA:69078 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Fatigue, Respiratory... |
ORPHA:60025 |
Lynch Syndrome |
|
Gastrointestinal hemorrhage, Glioblastoma multiforme, Pancreatic adenocarcinoma, Benign neoplasm ... |
ORPHA:144 |
Intellectual Disability And Myopathy Syndrome |
|
Left ventricular systolic dysfunction, Fatigue |
OMIM:619719 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Fatigue, Mildly reduced left ventricular ejection fraction, Abnormal corona... |
ORPHA:99094 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Arthralgia, Ecchymosis, Chills, Internal... |
ORPHA:99827 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Adult-Onset Still Disease |
|
Fatigue, Pericarditis, Abdominal pain, Myocarditis, Recurrent pharyngitis, Restrictive ventilator... |
ORPHA:829 |
Solitary Fibrous Tumor |
|
Fatigue, Low back pain, Soft tissue neoplasm, Vaginal neoplasm, Night sweats, Genital neoplasm, N... |
ORPHA:2126 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism,... |
ORPHA:3260 |
Stormorken Syndrome |
|
Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Myalgia, Bruising sus... |
OMIM:185070 |
Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Retinal hemorrhage, Respiratory insufficiency |
OMIM:615368 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Apnea, Cerebral hemorrhage, Respiratory insufficiency |
OMIM:618886 |
X-Linked Sideroblastic Anemia |
|
Fatigue, Dyspnea |
ORPHA:75563 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
Mucolipidosis Type Iii |
|
Fatigue |
ORPHA:577 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Chronic fatigue, Right ventricular failure, Dyspnea, Night sweats, Heart murmur, Episodic abdomin... |
ORPHA:100085 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Renal neoplasm, Recurrent respiratory infections, Fatigue, Ungual fi... |
ORPHA:538 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Arthralgia, Cough, Fatigue, Abdominal pain, Vasculitis, Chronic pulmonary obstruction,... |
ORPHA:900 |
Propionic Acidemia |
|
Cardiomyopathy, Cerebellar hemorrhage, Tachypnea, Apnea |
OMIM:606054 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... |
ORPHA:99901 |
Myofibrillar Myopathy 11 |
|
Reduced forced vital capacity, Fatigue, Coarctation of aorta |
OMIM:619178 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Fatigue, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypoxe... |
ORPHA:747 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Postural hypotension with compensatory tachycardia, Fa... |
ORPHA:85443 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Fatigue, Exercise intolerance, Cardiomyopathy, Myalgia, Bradycardia, Arrhythmia |
OMIM:609286 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Fatigue, Tachycardia, Myelodysplasia, Hematological neoplasm, Abdominal p... |
ORPHA:98849 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Fatigue, Gingival bleeding |
OMIM:618549 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Fatigue, Exercise intolerance, Dyspnea, Exercise-induced myalgia, Myalgia, Palpitations, Hypertro... |
OMIM:618250 |
Postpoliomyelitis Syndrome |
|
Fatigue, Hypoventilation, Respiratory insufficiency, Arthralgia, Myalgia, Pain |
ORPHA:2942 |
Thyroid Hemiagenesis |
|
Fatigue, Umbilical hernia |
ORPHA:95719 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Fatigue, Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death |
ORPHA:156 |
Menkes Disease |
|
Intracranial hemorrhage |
OMIM:309400 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Abnormal internal carotid artery morphology, Fatigue, Respiratory tract inf... |
ORPHA:365 |
Medulloblastoma |
|
Back pain, Cerebellar hemorrhage, Medulloblastoma, Spinal cord tumor, Neoplasm of the lung, Neuro... |
ORPHA:616 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Fatigue, Recurrent upper respiratory tract infections |
ORPHA:589905 |
Postorgasmic Illness Syndrome |
|
Fatigue, Hypertension, Palpitations |
ORPHA:279947 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Abdominal pain, Internal hemorrhage, Prolonged prothrombin time, ... |
ORPHA:335 |
Immunodeficiency, Common Variable, 11 |
|
Fatigue, Recurrent respiratory infections |
OMIM:615767 |
Autosomal Agammaglobulinemia |
|
Fatigue, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Cough, Verrucae |
ORPHA:33110 |
Lyme Disease |
|
Fatigue, Atrioventricular block, Arthralgia, Myalgia, Arrhythmia |
ORPHA:91546 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Fatigue, Exercise-induced myalgia, Arrhythmia, Exertional dyspnea |
ORPHA:42 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Bronchitis, Abdominal pain, Intraventricular hemorrhage, ... |
ORPHA:420741 |
Vexas Syndrome |
|
Fatigue, Myelodysplasia, Night sweats, Arthralgia, Arteritis |
OMIM:301054 |
Insulinoma |
|
Fatigue, Neoplasm of the adrenal gland, Pituitary prolactin cell adenoma, Palpitations, Neuroendo... |
ORPHA:97279 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu... |
ORPHA:1329 |
Rheumatoid Arthritis |
|
Fatigue, Vasculitis, Arthralgia |
OMIM:180300 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Encephalocele, Meningocele |
OMIM:614424 |
Mast Cell Sarcoma |
|
Fatigue, Sarcoma |
ORPHA:66661 |
Barth Syndrome |
|
Fatigue, Exercise intolerance, Increased left ventricular end-diastolic volume, Tricuspid regurgi... |
OMIM:302060 |
Corticosteroid-Binding Globulin Deficiency |
|
Fatigue, Hypertension, Asthenia, Hypotension |
OMIM:611489 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage |
OMIM:251000 |
Isolated Agammaglobulinemia |
|
Fatigue, Recurrent respiratory infections, Sinusitis, Pneumonia |
ORPHA:229717 |
Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte... |
OMIM:615343 |
Adiposis Dolorosa |
|
Arthralgia, Fatigue, Bruising susceptibility, Telangiectasia of the skin |
ORPHA:36397 |
Leishmaniasis |
|
Abnormal bleeding, Fatigue, Night sweats, Rhinitis, Arthralgia |
ORPHA:507 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Fatigue |
OMIM:251950 |
Pfapa Syndrome |
|
Fatigue, Recurrent pharyngitis, Arthralgia, Abdominal pain |
ORPHA:42642 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Fatigue, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction,... |
ORPHA:3342 |
Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Fatigue, Epistaxis, Abdominal pain, Dyspnea, Card... |
ORPHA:79430 |
Acute Radiation Syndrome |
|
Abnormal bleeding, Fatigue, Telangiectasia, Interstitial pneumonitis, Hypotension |
ORPHA:454831 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Fatigue, Venous insufficiency, Arterial stenosis, Intracranial hemor... |
ORPHA:565 |
Botulism |
|
Fatigue, Arrhythmia, Respiratory insufficiency, Abdominal pain |
ORPHA:1267 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn... |
ORPHA:275766 |
Alexander Disease |
|
Fatigue |
OMIM:203450 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti... |
ORPHA:90060 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Left-to-right shunt, Congestive heart failure, Patent ductus ar... |
ORPHA:99050 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Nonproductive cough, Abnormal EKG, Patent ductus arteriosus,... |
ORPHA:980 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Fatigue |
OMIM:253601 |
Poems Syndrome |
|
Fatigue, Pain, Lymphoproliferative disorder, Respiratory insufficiency due to muscle weakness, Re... |
ORPHA:2905 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Fatigue, Post-partum hemorrhage, Melena, Oral cavity bleeding, Gingival bleeding |
ORPHA:98870 |
Scimitar Syndrome |
|
Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, ... |
ORPHA:185 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Fatigue, Cardiomyopathy |
ORPHA:1215 |
Cirrhotic Cardiomyopathy |
|
Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Exercise intolerance,... |
ORPHA:57777 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... |
ORPHA:394 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, Chylothorax |
OMIM:620278 |
Iatrogenic Botulism |
|
Fatigue, Dyspnea, Orthostatic hypotension |
ORPHA:254509 |
Reynolds Syndrome |
|
Fatigue, Telangiectasia of the skin, Respiratory insufficiency, Myalgia, Mucosal telangiectasiae |
ORPHA:779 |
X-Linked Agammaglobulinemia |
|
Fatigue, Sinusitis, Abnormal lung morphology, Recurrent pneumonia, Neoplasm |
ORPHA:47 |
Q Fever |
|
Respiratory distress, Fatigue, Pericarditis, Pneumonia, Abnormal vascular morphology, Myocarditis... |
ORPHA:781 |
Superficial Siderosis |
|
Abnormal bleeding, Back pain, Subarachnoid hemorrhage, Neoplasm of the central nervous system, Ab... |
ORPHA:247245 |
Proximal Spinal Muscular Atrophy |
|
Fatigue, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle ... |
ORPHA:70 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke |
ORPHA:447788 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Fatigue |
ORPHA:314632 |
Immunodeficiency 70 |
|
Chronic fatigue, Verrucae, Recurrent sinusitis |
OMIM:618969 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Pulmonary edema |
OMIM:178400 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Moyamoya phenomenon |
ORPHA:401986 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Fatigue, Angina pectoris, Transient ischemic at... |
ORPHA:324 |
Spastic Paraplegia Type 2 |
|
Recurrent respiratory infections, Bowel incontinence, Pulmonary embolism |
ORPHA:99015 |
Congenital Disorder Of Glycosylation, Type It |
|
Fatigue, Exercise intolerance, Tachycardia, Sudden cardiac death, Dyspnea, Dilated cardiomyopathy... |
OMIM:614921 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Fatigue, Gastrointestinal stroma tumor, Esophageal neoplasm, Sarcoma |
ORPHA:44890 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Respiratory insufficiency, Heart murmur, Intracranial hemorrhage, Capil... |
ORPHA:163979 |
Poliomyelitis |
|
Fatigue, Respiratory failure requiring assisted ventilation, Exercise intolerance, Hypertension, ... |
ORPHA:2912 |
Athyreosis |
|
Fatigue |
ORPHA:95713 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Exercise intolerance, Subdural hemorrhage, Retinal hemorrhage, Subependymal nodules |
ORPHA:25 |
Macs Syndrome |
|
Fatigue, Prolonged bleeding time, Dilation of Virchow-Robin spaces, Bronchiectasis, Umbilical her... |
OMIM:613075 |
Familial Cold Urticaria |
|
Fatigue, Arthralgia, Myalgia, Abdominal pain |
ORPHA:47045 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Fatigue |
OMIM:614831 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Neonatal respiratory distress, Apnea, Dilated cardiomyopathy, Abnormality of neuronal migration, ... |
OMIM:608836 |
Cronkhite-Canada Syndrome |
|
Hamartomatous polyposis, Fatigue, Neoplasm, Abdominal pain |
ORPHA:2930 |
Zygomycosis |
|
Sinusitis, Acute infectious pneumonia, Cough, Fatigue, Abdominal pain, Atelectasis, Hematochezia,... |
ORPHA:73263 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Fatigue, Pulmonary embolism, Respiratory tract infection, Dyspnea, Abdominal pain, Hypertension, ... |
ORPHA:567546 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Fatigue, Dyspnea, Arthralgia, Abdominal pain |
OMIM:615399 |
Post-Traumatic Pituitary Deficiency |
|
Fatigue, Hypotension |
ORPHA:95619 |
Renal Nutcracker Syndrome |
|
Fatigue, Orthostatic hypotension, Tachycardia, Abdominal pain, Flank pain, Vulval varicose vein, ... |
ORPHA:71273 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Chronic fatigue, Bone pain |
OMIM:610539 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Fatigue |
OMIM:618049 |
Dopamine Beta-Hydroxylase Deficiency |
|
Fatigue, Abnormal EKG, Orthostatic hypotension, Dyspnea, Syncope, Orthostatic syncope, Rhinitis, ... |
ORPHA:230 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Fatigue, Sudden cardiac death, Myo... |
ORPHA:36426 |
Congenital Myopathy 22A, Classic |
|
Fatigue, Tricuspid regurgitation, Respiratory insufficiency, Bradycardia, Neonatal death |
OMIM:620351 |
Hypotonia-Cystinuria Syndrome |
|
Fatigue |
ORPHA:163690 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Fatigue, Portal hypertension, Abdominal pain, Congestive heart failure, Cardiomyopathy, Arthralgi... |
ORPHA:465508 |
Glucocorticoid Resistance, Generalized |
|
Fatigue, Hypertension |
OMIM:615962 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Fatigue, Tricuspid regurgitation, Dyspnea, Mitral regurgitation, Aortic roo... |
ORPHA:230851 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Fatigue, Vasculitis, Bone pain |
ORPHA:324964 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Fatigue, Bruising susceptibility |
ORPHA:98791 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Mixed total anomalous pulmonary venous connection, Apneic episodes in infan... |
ORPHA:99125 |
Arachnoid Cyst |
|
Encephalocele, Back pain, Urinary incontinence, Subarachnoid hemorrhage, Abdominal pain, Neoplasm... |
ORPHA:2356 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Fatigue, Chills, Arthralgia, Myalgia |
OMIM:120100 |
Hennekam-Beemer Syndrome |
|
Fatigue, Telangiectasia of the skin, Pneumonia, Abdominal pain, Respiratory insufficiency, Hypote... |
ORPHA:2135 |
Overhydrated Hereditary Stomatocytosis |
|
Fatigue, Pulmonary embolism |
OMIM:185000 |
Lead Poisoning |
|
Fatigue, Abdominal pain, Asthma, Abnormal respiratory system physiology, Hypertension, Abdominal ... |
ORPHA:330015 |
Alveolar Echinococcosis |
|
Fatigue, Low back pain, Pulmonary cyst, Portal hypertension, Abdominal pain, Dyspnea, Chest pain,... |
ORPHA:284 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Fatigue |
ORPHA:171612 |
Gaisböck Syndrome |
|
Fatigue, Angina pectoris, Myocardial infarction, Dyspnea, Hypovolemia, Peripheral arterial stenos... |
ORPHA:90041 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Fatigue, Gangrene, Myocardial in... |
ORPHA:117 |
Nelson Syndrome |
|
Testicular neoplasm, Pituitary corticotropic cell adenoma, Ocular pain, Intracranial hemorrhage, ... |
ORPHA:199244 |
Pulmonary Hypertension, Primary, 2 |
|
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni... |
OMIM:615342 |
Amyotrophic Lateral Sclerosis |
|
Fatigue, Dyspnea, Abnormal respiratory system physiology, Respiratory failure, Pain |
ORPHA:803 |
Congenital Isolated Acth Deficiency |
|
Fatigue, Hypotension |
ORPHA:199296 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Aspiration pneumonia |
OMIM:616430 |
Mal De Débarquement |
|
Fatigue |
ORPHA:210272 |
Myotonia Fluctuans |
|
Stridor, Fatigue, Apnea, Myalgia |
ORPHA:99734 |
Tarp Syndrome |
|
Neonatal death, Tetralogy of Fallot, Subdural hemorrhage |
OMIM:311900 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Respiratory distress, Recurrent respiratory infections, Fatigue, Sud... |
ORPHA:537 |
Adenocarcinoma Of The Anal Canal |
|
Chronic fatigue, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Abdominal pain, Neop... |
ORPHA:424016 |
Familial Cerebral Cavernous Malformation |
|
Cerebral hemorrhage, Venous malformation, Neuroma, Choroidal hemangioma, Hemangioma, Meningioma |
ORPHA:221061 |
Immunodeficiency 58 |
|
Fatigue, Recurrent respiratory infections, Allergic rhinitis, Asthma, Chronic pulmonary obstructi... |
OMIM:618131 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Fatigue, Hypertension |
OMIM:615954 |
Meningioma |
|
Back pain, Urinary incontinence, Cerebral hemorrhage, Neoplasm of the anterior pituitary, Progres... |
ORPHA:2495 |
Cinca Syndrome |
|
Fatigue, Arthralgia, Myalgia, Purpura |
ORPHA:1451 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Fatigue, Cardiomyopathy, Exercise intolerance, Cardiac arrest |
OMIM:617713 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Fatigue, Tricuspid regurgitation, Sinus bradycardia, Mitral regurgitation, Lower limb pain |
OMIM:261990 |
Erdheim-Chester Disease |
|
Fatigue, Abdominal pain, Dyspnea, Congestive heart failure, Bone pain, Abnormal pulmonary interst... |
ORPHA:35687 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Fatigue, Patent ductus arteriosus |
OMIM:617061 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension, Testicular adrenal rest tumor |
ORPHA:90795 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Fatigue, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Shortened QT interval, ... |
ORPHA:99880 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Fatigue, Cardiomyopathy, Myalgia, Congestive heart failure |
OMIM:619259 |
Glioblastoma |
|
Fatigue, Glioblastoma multiforme |
ORPHA:360 |
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 |
Parathyroid Carcinoma |
|
Fatigue, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Shortened QT interval, ... |
ORPHA:143 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Fatigue, Recurrent respiratory infections, Pneumonia, Allergic rhinitis, Bronchitis, Asthma, Recu... |
ORPHA:183675 |
Primary Sjögren Syndrome |
|
Fatigue, Lymphoproliferative disorder, Lymphocytic interstitial pneumonia, Bronchitis, Raynaud ph... |
ORPHA:289390 |
Kawasaki Disease |
|
Fatigue, Pericarditis, Abdominal pain, Myocarditis, Congestive heart failure, Vasculitis, Recurre... |
ORPHA:2331 |
Acute Monoblastic/Monocytic Leukemia |
|
Fatigue, Acute monocytic leukemia, Exertional dyspnea |
ORPHA:514 |
Secondary Intestinal Lymphangiectasia |
|
Fatigue, Abdominal colic, B-cell lymphoma, Right ventricular failure, Lymphoma, Intestinal bleedi... |
ORPHA:90363 |
Neuroleptic Malignant Syndrome |
|
Fatigue, Rigors, Tachycardia, Urinary incontinence, Pulmonary embolism, Hypertension, Bradycardia... |
ORPHA:94093 |
Acute Adrenal Insufficiency |
|
Fatigue, Orthostatic hypotension, Myocardial infarction, Abdominal pain, Hypovolemia, Arthralgia,... |
ORPHA:95409 |
Goodpasture Syndrome |
|
Fatigue, Crackles, Nodular pattern on pulmonary HRCT, Increased DLCO, Tachypnea, Restrictive vent... |
OMIM:233450 |
Selective Igm Deficiency |
|
Recurrent respiratory infections, Chronic fatigue, Allergic rhinitis, Raynaud phenomenon, Asthma,... |
ORPHA:331235 |
Listeriosis |
|
Respiratory distress, Back pain, Pericarditis, Fatigue, Pneumonia, Abdominal pain, Myocarditis, C... |
ORPHA:533 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Chronic fatigue, Spider hemangioma, Abdominal pain, Arthralgia |
ORPHA:2137 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Fatigue, Tachycardia |
ORPHA:263455 |
Nocardiosis |
|
Respiratory distress, Fatigue, Pericarditis, Pneumonia, Productive cough, Nonproductive cough, Dy... |
ORPHA:31204 |
Ileal Neuroendocrine Tumor |
|
Chronic fatigue, Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Episodic abdo... |
ORPHA:100078 |
Bone Marrow Failure Syndrome 6 |
|
Myalgia, Squamous cell carcinoma of the tongue, Chronic fatigue, Recurrent sinusitis |
OMIM:618849 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Stroke, Pu... |
ORPHA:79282 |
Congenital Analbuminemia |
|
Fatigue, Recurrent lower respiratory tract infections, Low pulse pressure |
ORPHA:86816 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic... |
ORPHA:740 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Sudden death, Abdominal aortic aneurysm, Arterial tortuosity, Patent ... |
OMIM:613795 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocyt... |
ORPHA:805 |
Cyclic Neutropenia |
|
Fatigue, Sinusitis, Abdominal pain, Respiratory tract infection, Bone pain |
ORPHA:2686 |
Eosinophilic Fasciitis |
|
Fatigue, Arthralgia, Myalgia |
ORPHA:3165 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Abnormal respiratory system physiology, In... |
ORPHA:90062 |
Cystinosis |
|
Fatigue, Portal hypertension |
ORPHA:213 |
Aregenerative Anemia |
|
Abnormal bleeding, Dyspnea, Fatigue, Bruising susceptibility |
ORPHA:101096 |
Shigellosis |
|
Fatigue, Pneumonia, Abdominal pain, Myocarditis, Hypovolemic shock, Asthenia, Abdominal cramps, P... |
ORPHA:810 |
Igg4-Related Retroperitoneal Fibrosis |
|
Fatigue, Low back pain, Abdominal pain, Flank pain, Renovascular hypertension, Large vessel vascu... |
ORPHA:49041 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Fatigue, Myelopathy, Bradypnea, Respiratory failure, Cervical myelopathy |
OMIM:617186 |
Hyperprolinemia Type 2 |
|
Exercise intolerance, Chronic fatigue, Myalgia, Abdominal pain |
ORPHA:79101 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Neonatal death, Intraventricular hemorrhage, Prolonged prothrombin time |
OMIM:619055 |
Castleman Disease |
|
Fatigue, Abdominal pain, Dyspnea, Flank pain, Cough, Constitutional symptom, Restrictive cardiomy... |
ORPHA:160 |
Generalized Pustular Psoriasis |
|
Fatigue, Congestive heart failure, Arthralgia, Pain |
ORPHA:247353 |
Cystic Echinococcosis |
|
Fatigue, Multiple pulmonary cysts, Pulmonary cyst, Asthma, Abnormal subpleural morphology, Epigas... |
ORPHA:400 |
Pituicytoma |
|
Fatigue |
ORPHA:251623 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Stridor, Fatigue |
ORPHA:352649 |
Immunodeficiency 97 With Autoinflammation |
|
Fatigue, Recurrent sinopulmonary infections, Abdominal pain, Bronchiolitis obliterans organizing ... |
OMIM:619802 |
Herpes Simplex Virus Encephalitis |
|
Fatigue, Respiratory failure requiring assisted ventilation, Chills |
ORPHA:1930 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Umbilical hernia, Bruising susceptibi... |
ORPHA:536545 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Fatigue, Hypertrophic cardiomyopathy |
OMIM:607426 |
Becker Muscular Dystrophy |
|
Exercise intolerance, Fatigue, Myalgia |
ORPHA:98895 |
Osteopetrosis, Autosomal Dominant 3 |
|
Fatigue, Asthenia |
OMIM:618107 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Fatigue, Apnea, Cardiac arrest, Dilated cardiomyopathy, Tachypnea, Prolonged prothrombin time, Hy... |
ORPHA:20 |
Glycogen Storage Disease Ixa1 |
|
Fatigue |
OMIM:306000 |
Pituitary Apoplexy |
|
Fatigue, Trigeminal neuralgia, Pituitary adenoma, Hypertension, Hypotension |
ORPHA:95613 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Fatigue |
ORPHA:209335 |
Pediatric Hepatocellular Carcinoma |
|
Fatigue, Epigastric pain, Abdominal pain |
ORPHA:33402 |
Genetic Hyperferritinemia Without Iron Overload |
|
Fatigue, Arthralgia |
ORPHA:254704 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Fatigue, Exercise intolerance, Atrial fibrillation, Dilated cardiomyopathy, Respiratory insuffici... |
ORPHA:254892 |
Benign Recurrent Intrahepatic Cholestasis |
|
Fatigue, Abdominal pain |
ORPHA:65682 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Visceral angiomatosis, Coarctation of aorta, Aortic root ane... |
ORPHA:42775 |
Brucellosis |
|
Fatigue, Pericarditis, Lung abscess, Transient ischemic attack, Pneumonia, Bronchitis, Abdominal ... |
ORPHA:1304 |
Cold Agglutinin Disease |
|
Back pain, Fatigue, Arthralgia |
ORPHA:56425 |
Late-Onset Isolated Acth Deficiency |
|
Fatigue, Orthostatic hypotension, Abdominal pain, Pituitary adenoma, Arthralgia, Hypotension |
ORPHA:199299 |
Coccidioidomycosis |
|
Respiratory distress, Fatigue, Pericarditis, Pneumonia, Vasculitis, Vasospasm, Chest pain, Cerebr... |
ORPHA:228123 |
Chikungunya |
|
Abnormal bleeding, Fatigue, Shoulder pain, Epistaxis, Raynaud phenomenon, Arthralgia, Myalgia, Gi... |
ORPHA:324625 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Fatigue |
OMIM:274300 |
Loeys-Dietz Syndrome 6 |
|
Carotid artery dissection, Thoracic aortic aneurysm, Chronic fatigue, Varicose veins, Dilatation ... |
OMIM:619656 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Abdominal pain, Arthralgia, Budd-Chiari syndrome, Recurrent lower respiratory... |
OMIM:226300 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Fatigue, Telangiectasia of the skin, Telangiectasia, Melanoma, Neopl... |
ORPHA:910 |
Gaucher Disease Type 3 |
|
Fatigue, Recurrent respiratory infections, Bone pain, Abnormal pulmonary interstitial morphology,... |
ORPHA:77261 |
Inhalational Botulism |
|
Fatigue, Dyspnea |
ORPHA:254504 |
Muckle-Wells Syndrome |
|
Myalgia, Arthralgia, Chronic fatigue |
OMIM:191900 |
Gitelman Syndrome |
|
Prolonged QT interval, Fatigue, Abdominal pain, Ventricular tachycardia, Arthralgia, Palpitations... |
OMIM:263800 |
Papa Syndrome |
|
Fatigue, Arthralgia |
ORPHA:69126 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Low back pain, Fatigue, Acute myelomonocytic leukemia |
ORPHA:86843 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Fatigue, Recurrent pharyngitis, Recurrent pneumonia, Recurrent upper respiratory tract infections... |
ORPHA:293978 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Neonatal respiratory distress, Cerebral hemorrhage, Trigeminal neuralgia, V... |
ORPHA:666 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Fatigue, Myalgia |
ORPHA:98673 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
Houge-Janssens Syndrome 1 |
|
Fatigue |
OMIM:616355 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Fatigue, Hypertension |
ORPHA:98808 |
Gamma-Heavy Chain Disease |
|
Fatigue, Recurrent respiratory infections, Neoplasm of the tongue |
ORPHA:100026 |
New-Onset Refractory Status Epilepticus |
|
Fatigue |
ORPHA:363558 |
Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Fatigue, Rigors, Abdominal pain, Respiratory paralys... |
ORPHA:79139 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage |
ORPHA:79284 |
Fixed Drug Eruption |
|
Fatigue, Chills |
ORPHA:293812 |
Cockayne Syndrome Type 3 |
|
Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stroke, Increased ... |
ORPHA:90324 |
Dubin-Johnson Syndrome |
|
Fatigue, Abdominal pain |
ORPHA:234 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteochondroma, Recurrent respiratory infections, Internal carotid artery dissection, Myocardial ... |
OMIM:150230 |
Angiostrongyliasis |
|
Fatigue, Abdominal pain, Arthralgia, Myalgia, Neck pain, Pain |
ORPHA:74 |
Arachnoiditis |
|
Fatigue, Arthralgia |
ORPHA:137817 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal bleeding, Prolonged QT interval, Fatigue, Crackles, Tachypnea, ST segment depression, Hy... |
ORPHA:466650 |
Satoyoshi Syndrome |
|
Fatigue |
OMIM:600705 |
Creatine Phosphokinase, Elevated Serum |
|
Fatigue, Myalgia |
OMIM:123320 |
Infection-Related Hemolytic Uremic Syndrome |
|
Fatigue, Pneumonia, Abdominal pain, Respiratory tract infection, Myocarditis, Dyspnea, Hypertensi... |
ORPHA:544482 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Encopresis, Cerebral hemorrhage |
OMIM:616682 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Fatigue, Cardiomyopathy, Exercise intolerance, Myalgia |
ORPHA:264580 |
Vipoma |
|
Neoplasm of the pancreas, Chronic fatigue, Follicular thyroid carcinoma, Respiratory insufficienc... |
ORPHA:97282 |
Primary Sclerosing Cholangitis |
|
Fatigue, Portal hypertension, Spider hemangioma, Abdominal pain, Congestive heart failure, Dilate... |
ORPHA:171 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Visceral ... |
ORPHA:3205 |
Acute Transverse Myelitis |
|
Back pain, Fatigue, Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, Hyper... |
ORPHA:139417 |
Familial Glucocorticoid Deficiency |
|
Chronic fatigue, Testicular adrenal rest tumor, Episodic abdominal pain, Hypotension, Leydig cell... |
ORPHA:361 |
Dpagt1-Cdg |
|
Intracranial hemorrhage, Prolonged QT interval, Pulmonary hypoplasia, Stroke-like episode |
ORPHA:86309 |
Kikuchi-Fujimoto Disease |
|
Fatigue, Myocarditis, Vasculitis, Night sweats, Abnormal pulmonary interstitial morphology, Arthr... |
ORPHA:50918 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Emphysema, Arterial tortuosity, Patent ductus ar... |
OMIM:619472 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Exercise intolerance, Fatigue |
OMIM:613077 |
Dehydrated Hereditary Stomatocytosis |
|
Episodic fatigue, Pulmonary venous hypertension, Abdominal pain |
ORPHA:3202 |
Gaucher Disease |
|
Abnormal bleeding, Fatigue, Abdominal pain, Cherry red spot of the macula, Bone pain, Abnormal pu... |
ORPHA:355 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Chronic fatigue, Pituitary adenoma, Episod... |
ORPHA:97283 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Respiratory tract infection, Abdominal pain, Pulmonary embolism |
ORPHA:567548 |
Chronic Myeloid Leukemia |
|
Fatigue, Myeloproliferative disorder |
ORPHA:521 |
Steinert Myotonic Dystrophy |
|
Fatigue, Respiratory failure requiring assisted ventilation, Endometrial carcinoma, Atrial fibril... |
ORPHA:273 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage |
ORPHA:91350 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent respiratory infections, Testicular neoplasm, Spina bifida, Intraventricular hemorrhage,... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Testicular neoplasm, Spina bifida, Intraventricular hemorrhage,... |
ORPHA:363958 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Intraventricular hemorrhage |
OMIM:613603 |
Classical Ehlers-Danlos Syndrome |
|
Fatigue, Prolonged bleeding time, Orthostatic hypotension, Arterial rupture, Limb pain, Mitral re... |
ORPHA:287 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Fatigue |
OMIM:241150 |
Lymphatic Filariasis |
|
Fatigue, Wheezing, Abnormal lung morphology, Restrictive ventilatory defect, Cough, Pain, Lymphan... |
ORPHA:2035 |
Atypical Juvenile Parkinsonism |
|
Fatigue |
ORPHA:391411 |
Hydranencephaly |
|
Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Antenatal intr... |
ORPHA:2177 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Fatigue, Bone pain |
ORPHA:89937 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Umbilical hernia, Fatigue |
OMIM:619234 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Fatigue, Umbilical hernia, Bradycardia |
ORPHA:90674 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Atrial fibrillation, Chronic fatigue, Arterial tortuosity, Patent ductus ar... |
ORPHA:284984 |
Plague |
|
Abnormal bleeding, Respiratory distress, Tachycardia, Fatigue, Abdominal pain, Hematemesis, Acute... |
ORPHA:707 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage |
OMIM:616507 |
Non-Functioning Pituitary Adenoma |
|
Fatigue, Hypotension |
ORPHA:91349 |
Marburg Hemorrhagic Fever |
|
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Back pain, Abdominal pain, Excessive bleedin... |
ORPHA:99826 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Patent ductus arter... |
OMIM:619351 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Fatigue |
ORPHA:257 |
Tetrasomy 9P |
|
Fatigue, Pericarditis, Juxtaductal coarctation of the aorta, Raynaud phenomenon, Pilomatrixoma, U... |
ORPHA:3310 |
Marfan Syndrome |
|
Arthralgia/arthritis, Spontaneous pneumothorax, Chronic fatigue, Congestive heart failure, Descen... |
ORPHA:558 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Subdural hemorrhage |
OMIM:619714 |
Yellow Fever |
|
Abnormal bleeding, Shock, Low back pain, Supraventricular arrhythmia, Abdominal pain, Excessive b... |
ORPHA:99829 |
Functioning Gonadotropic Adenoma |
|
Fatigue, Pituitary gonadotropic cell adenoma |
ORPHA:91348 |
Sarcoidosis |
|
Fatigue, Abnormal cardiac ventricular function, Portal hypertension, Abnormal pleura morphology, ... |
ORPHA:797 |
Prolactinoma |
|
Fatigue, Hypotension |
ORPHA:2965 |
Kufor-Rakeb Syndrome |
|
Fatigue |
OMIM:606693 |
Generalized Glucocorticoid Resistance Syndrome |
|
Fatigue, Hypertension, Stroke |
ORPHA:786 |
Multiple Osteochondromas |
|
Osteochondroma, Chondrosarcoma, Pseudoaneurysm, Pneumothorax, Cervical myelopathy, Rib exostoses,... |
ORPHA:321 |
Familial Pancreatic Carcinoma |
|
Back pain, Pancreatic adenocarcinoma, Chronic fatigue, Abdominal pain, Breast carcinoma, Melanoma... |
ORPHA:1333 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Fatigue, Chills |
ORPHA:86884 |
Malt Lymphoma |
|
Fatigue, Recurrent respiratory infections, B-cell lymphoma, Abdominal pain |
ORPHA:52417 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Chronic fatigue, Pituitary adenoma, Episod... |
ORPHA:97280 |
Addison Disease |
|
Fatigue, Orthostatic hypotension, Abdominal pain, Thymoma, Arthralgia, Hypotension |
ORPHA:85138 |
Igg4-Related Kidney Disease |
|
Fatigue, Pericarditis, Abdominal pain, Abnormal lung morphology, Lymphocytoma cutis, Interstitial... |
ORPHA:449395 |
Insulin-Resistance Syndrome Type B |
|
Fatigue, Pneumonia, Lymphoma, Hodgkin lymphoma, Multiple myeloma |
ORPHA:2298 |
Primary Biliary Cholangitis |
|
Fatigue, Orthostatic hypotension, Portal hypertension |
ORPHA:186 |
Congenital Fiber-Type Disproportion Myopathy |
|
Fatigue, Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle w... |
ORPHA:2020 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Exercise intolerance, Fatigue, Apnea, Respiratory insufficiency |
OMIM:617239 |
Sheehan Syndrome |
|
Orthostatic hypotension, Chronic fatigue, Arthralgia, Palpitations, Bradycardia, Chills |
ORPHA:91355 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Fatigue, Exercise intolerance, Myalgia |
ORPHA:79240 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Fatigue, Multiple lipomas, Bone pain |
OMIM:600740 |
Septo-Optic Dysplasia Spectrum |
|
Fatigue |
ORPHA:3157 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hem... |
OMIM:175780 |
Adrenomyeloneuropathy |
|
Back pain, Fatigue, Urinary incontinence, Bowel incontinence, Impaired continence |
ORPHA:139399 |
Tsh-Secreting Pituitary Adenoma |
|
Fatigue, Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypot... |
ORPHA:91347 |
Witteveen-Kolk Syndrome |
|
Intracranial hemorrhage, Branchial fistula, Fatigue, Bilateral polymicrogyria |
OMIM:613406 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Back pain, Fatigue, Abdominal pain, Congestive heart failure, Neurofibroma,... |
OMIM:619475 |
Immunodeficiency 31C |
|
Fatigue, Recurrent respiratory infections, Bronchiectasis, Cough |
OMIM:614162 |
Thyroid Hypoplasia |
|
Fatigue |
ORPHA:95720 |
Somatomammotropinoma |
|
Fatigue, Pituitary adenoma, Hypertension, Mitral regurgitation, Arthralgia, Pituitary prolactin c... |
ORPHA:314769 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Respiratory insufficiency due to muscle weakness, Fatigue, Urinary incontinence |
ORPHA:466768 |
Acromegaly |
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Fatigue, Hypertension, Mitral regurgitation, Arthralgia, Pituitary prolactin cell adenoma, Pituit... |
ORPHA:963 |
Hypermobile Ehlers-Danlos Syndrome |
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Fatigue, Apnea, Venous insufficiency, Ascending tubular aorta aneurysm, Arthralgia, Myalgia, Arte... |
ORPHA:285 |
Klatskin Tumor |
|
Fatigue, Abdominal pain |
ORPHA:99978 |
Multiple Myeloma |
|
Fatigue, Pleural effusion, Bone pain |
ORPHA:29073 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Fatigue, Umbilical hernia, Bradycardia |
ORPHA:226307 |
Gallbladder Neuroendocrine Tumor |
|
Neoplasm of the nervous system, Chronic fatigue, Neuroendocrine neoplasm, Episodic abdominal pain |
ORPHA:100086 |
Tick-Borne Encephalitis |
|
Back pain, Fatigue, Limb pain, Arthralgia, Myalgia |
ORPHA:297 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Fatigue |
ORPHA:99832 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Fatigue |
ORPHA:300298 |
African Trypanosomiasis |
|
Fatigue, Abnormal EKG, Pericarditis, Rigors, Urinary incontinence, Myocarditis, Congestive heart ... |
ORPHA:3385 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Fatigue |
OMIM:617994 |
Hereditary Xanthinuria |
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Flank pain, Chronic fatigue |
ORPHA:3467 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Fatigue, Abdominal pain, Flank pain, Ocular pain, Vitreous hemorrhage, Arthralgia, Myalgia |
ORPHA:91500 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Fatigue, Pneumonia, Vul... |
ORPHA:95455 |
Vascular Ehlers-Danlos Syndrome |
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Internal hemorrhage, Abnormal bleeding, Peripheral arteriovenous fistula, Respiratory insufficien... |
ORPHA:286 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Fatigue, Abdominal pain |
ORPHA:309031 |
Paroxysmal Nocturnal Hemoglobinuria |
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Myocardial infarction, Pulmonary embolism, Dyspnea, Episodic abdominal pain, Hypertension, Chest ... |
ORPHA:447 |
Familial Hypocalciuric Hypercalcemia |
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Lipoma, Fatigue, Episodic abdominal pain |
ORPHA:405 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Fatigue, Arthralgia |
ORPHA:562639 |
Non-Acquired Panhypopituitarism |
|
Fatigue, Hypotension |
ORPHA:90695 |
Parkinson Disease 20, Early-Onset |
|
Fatigue |
OMIM:615530 |
Pmm2-Cdg |
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Respiratory distress, Pericarditis, Angina pectoris, Intracranial hemorrhage, Aspiration pneumoni... |
ORPHA:79318 |
Kufor-Rakeb Syndrome |
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Fatigue, Urinary incontinence, Bowel incontinence |
ORPHA:306674 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Fatigue, Hypotension |
ORPHA:95494 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Fatigue |
ORPHA:79078 |