Lymphoma, Mucosa-Associated Lymphoid Type |
|
Gastric lymphoma |
OMIM:137245 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma |
OMIM:619182 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development |
|
Hiatus hernia |
OMIM:272000 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
Esophageal Ring, Lower |
|
Dysphagia, Hiatus hernia |
OMIM:133240 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage, Polyhydramnios |
OMIM:215550 |
Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recu... |
ORPHA:36382 |
Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Tumor Predisposition Syndrome 4 |
|
Stomach cancer |
OMIM:609265 |
Hernia, Hiatus |
|
Hiatus hernia |
OMIM:142400 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Angio... |
ORPHA:449285 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Short stature, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Delaye... |
ORPHA:280679 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Hip contracture, Prolonged b... |
ORPHA:169805 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Subdural hemorrh... |
ORPHA:97339 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... |
ORPHA:169802 |
Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... |
ORPHA:157798 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke |
OMIM:182410 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... |
ORPHA:465 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Growth delay |
OMIM:614483 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short stature, Cerebral hemorrhage, Postnatal growth retardation, Dilated cardiomyopathy, Abnorma... |
OMIM:300845 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Pleura... |
OMIM:617397 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Familial Multiple Nevi Flammei |
|
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat... |
ORPHA:624 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Edema, Pu... |
ORPHA:90308 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... |
OMIM:115197 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Upper limb muscle weakness, ... |
ORPHA:494424 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Intramuscular hematoma, ... |
OMIM:227500 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Primary Angiitis Of The Central Nervous System |
|
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis |
ORPHA:140989 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage, Pedal edema |
ORPHA:84090 |
Fetal Gaucher Disease |
|
Flexion contracture, Hydrops fetalis, Intracranial hemorrhage, Stillbirth, Neonatal death, Arthro... |
ORPHA:85212 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival bleeding |
ORPHA:98880 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... |
OMIM:202400 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Meningocele, Intracranial hemorrhage, Hypertension, Gro... |
OMIM:614424 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Propionic Acidemia |
|
Short stature, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Limb hypertonia |
OMIM:606054 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Edema, Polyhydramnios, Cardiomegaly... |
ORPHA:363705 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Multiple joint contractures, Polyhydramnios, Flexion contracture, Subdur... |
OMIM:618291 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... |
ORPHA:53719 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... |
ORPHA:99901 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Alpha-1-Antitrypsin Deficiency |
|
Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... |
ORPHA:853 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... |
ORPHA:251274 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramuscular hema... |
ORPHA:79 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio... |
OMIM:614702 |
Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells |
OMIM:256150 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Lymphedema, Pericardial effusion, Patent ductus arteriosus, ... |
OMIM:239850 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Ascites, Gingival bleeding, Hypotens... |
ORPHA:99828 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility, Lymphedema |
ORPHA:3226 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
Menkes Disease |
|
Intracranial hemorrhage, Intrauterine growth retardation, Short stature |
OMIM:309400 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage |
ORPHA:49566 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Cerebellar hemorrhage, Dehydration |
OMIM:251000 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capillary leak, Abno... |
ORPHA:1041 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Tarp Syndrome |
|
Subdural hemorrhage, Neonatal death, Atrial septal defect, Intrauterine growth retardation, Tetra... |
OMIM:311900 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... |
ORPHA:480536 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:94080 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Mirage Syndrome |
|
Short stature, Patent ductus arteriosus, Intracranial hemorrhage, Intrauterine growth retardation... |
OMIM:617053 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Cardiomegaly, Shor... |
OMIM:232300 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... |
ORPHA:90307 |
Hypophosphatasia, Infantile |
|
Intracranial hemorrhage, Stillbirth, Disproportionate short-limb short stature, Polyhydramnios |
OMIM:241500 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Edema, Intracranial hemorrhage, Oral cavity bleeding, Men... |
ORPHA:324636 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage, Dehydration |
OMIM:243500 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... |
ORPHA:363618 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Meningocele |
ORPHA:2481 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Abnormal lymphatic vesse... |
ORPHA:464329 |
Lethal Congenital Contracture Syndrome 5 |
|
Polyhydramnios, Centrally nucleated skeletal muscle fibers, Flexion contracture, Subdural hemorrh... |
OMIM:615368 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage |
ORPHA:398189 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Angina pectoris, Short stature, Lymphedema, Telangiectasia, Intracranial... |
ORPHA:109 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis |
ORPHA:664 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Growth delay, Intraventricular hemorrhage, Intrauterine growth retardation, Abnormal heart morpho... |
ORPHA:79284 |
Aspergillosis |
|
Intracranial hemorrhage, Pleural effusion, Stroke |
ORPHA:1163 |
Tempi Syndrome |
|
Intracranial hemorrhage, Transudative pleural effusion, Ascites, Telangiectasia |
ORPHA:284227 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Heart murmur, Intracranial he... |
ORPHA:163979 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehydration, Ab... |
ORPHA:79282 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall muscu... |
ORPHA:565 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Short stature, Increased nuchal translucency, Oligohydramnios, Fetal intraventricular hemorrhage,... |
OMIM:618480 |
Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology |
ORPHA:281090 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Short stature,... |
ORPHA:536545 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscle fiber size, Subdural... |
OMIM:620278 |
Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion contracture, ... |
OMIM:608836 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar... |
ORPHA:99827 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Stormorken Syndrome |
|
Abnormal bleeding, Short stature, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Myopat... |
OMIM:185070 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... |
ORPHA:555874 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary emboli... |
ORPHA:3260 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis |
OMIM:188025 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... |
ORPHA:340 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Growth delay, Subarachnoid hemorrhage |
OMIM:243700 |
Bronchogenic Cyst |
|
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... |
OMIM:300048 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke |
ORPHA:447788 |
Hellp Syndrome |
|
Pulmonary edema, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion, ... |
ORPHA:244242 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Hutchinson-Gilford Progeria Syndrome |
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Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... |
ORPHA:740 |
Wiskott-Aldrich Syndrome |
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Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... |
ORPHA:906 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
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Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... |
OMIM:618775 |
Hydranencephaly |
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Abnormal internal carotid artery morphology, Postnatal growth retardation, Dilatation of the vent... |
ORPHA:2177 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:276621 |
Viss Syndrome |
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Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At... |
OMIM:619472 |
Familial Adenomatous Polyposis 4 |
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Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma |
OMIM:617100 |
Cockayne Syndrome Type 3 |
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Skeletal muscle atrophy, Mild postnatal growth retardation, Flexion contracture, Subdural hemorrh... |
ORPHA:90324 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
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Pyloric stenosis |
OMIM:133705 |
Cardiac-Urogenital Syndrome |
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Prolonged bleeding time, Tachycardia, Atrial septal defect, Cor triatrium sinister, Ventricular s... |
OMIM:618280 |
Muir-Torre Syndrome |
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Neoplasm of the liver, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm |
ORPHA:587 |
Classic Homocystinuria |
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Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... |
ORPHA:394 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
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Neonatal death, Intraventricular hemorrhage, Prolonged prothrombin time, Intrauterine growth reta... |
OMIM:619055 |
Pheochromocytoma |
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Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
Pulmonary Capillary Hemangiomatosis |
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Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pericardial effusion, Pe... |
ORPHA:199241 |
Osteogenesis Imperfecta |
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Aortic regurgitation, Abnormal endocardium morphology, Short stature, Rhizomelia, Cerebral hemorr... |
ORPHA:666 |
1P31P32 Microdeletion Syndrome |
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Intraventricular hemorrhage, Moyamoya phenomenon |
ORPHA:401986 |
Systemic Sclerosis |
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Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Microcephalic Primordial Dwarfism, Montreal Type |
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Congenital pyloric atresia |
ORPHA:2617 |
Hereditary Pheochromocytoma-Paraganglioma |
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Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:29072 |
Dubin-Johnson Syndrome |
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Abnormal gastric mucosa morphology |
ORPHA:234 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal gr... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal gr... |
ORPHA:363958 |
Hepatoportal Sclerosis |
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Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma |
ORPHA:64743 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Intracranial hemorrhage, Hypertension, Short stature |
ORPHA:90795 |
Arachnoid Cyst |
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Encephalocele, Lower limb muscle weakness, Facial palsy, Subarachnoid hemorrhage |
ORPHA:2356 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
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Skeletal muscle hypertrophy, Intrauterine growth retardation, Subdural hemorrhage, Short stature |
OMIM:619714 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Cardiac Valvular Dysplasia 1 |
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Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... |
OMIM:212093 |
Aneurysm Of Sinus Of Valsalva |
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Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Stroke, Bacterial endocardit... |
ORPHA:1054 |
Microgastria-Limb Reduction Defect Syndrome |
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Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... |
ORPHA:2538 |
Superficial Siderosis |
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Abnormal bleeding, Lower limb muscle weakness, Subarachnoid hemorrhage, Abnormal vertebral artery... |
ORPHA:247245 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
Combined Oxidative Phosphorylation Deficiency 25 |
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Intraventricular hemorrhage, Short stature |
OMIM:616430 |
Congenital Tracheal Stenosis |
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Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Dpagt1-Cdg |
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Prolonged QT interval, Flexion contracture, Stroke-like episode, Intracranial hemorrhage, Anasarc... |
ORPHA:86309 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
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Intraventricular hemorrhage, Polyhydramnios |
OMIM:613603 |
Abeta Amyloidosis, Dutch Type |
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Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Autoinflammatory Disease, Systemic, X-Linked |
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Cerebral hemorrhage |
OMIM:301081 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
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Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
Reynolds Syndrome |
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Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia |
ORPHA:779 |
Osteogenesis Imperfecta, Type Xvii |
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Intraventricular hemorrhage, Decreased muscle mass, Short stature |
OMIM:616507 |
Medulloblastoma |
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Cerebellar hemorrhage |
ORPHA:616 |
Acute Liver Failure |
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Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Prolonged prothro... |
ORPHA:90062 |
Nelson Syndrome |
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Intracranial hemorrhage, Hypertension, Lower limb muscle weakness, Quadriceps muscle atrophy |
ORPHA:199244 |
Metachromatic Leukodystrophy |
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Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... |
ORPHA:512 |
Acys Amyloidosis |
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Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Generalized Arterial Calcification Of Infancy |
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Medial calcification of large arteries, Edema, Polyhydramnios, Cardiomegaly, Abnormal retinal art... |
ORPHA:51608 |
Witteveen-Kolk Syndrome |
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Branchial fistula, Short stature, Polyhydramnios, Congenital diaphragmatic hernia, Contracture of... |
OMIM:613406 |
Riddle Syndrome |
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Conjunctival telangiectasia, Intraventricular hemorrhage, Short stature, Telangiectasia |
ORPHA:420741 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Intracranial hemorrhage |
ORPHA:91350 |
Meningioma |
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Facial palsy, Cerebral hemorrhage, Upper limb muscle weakness, Syncope, Lower limb muscle weakness |
ORPHA:2495 |
Acute Transverse Myelitis |
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Orthostatic hypotension, Subarachnoid hemorrhage, Upper limb muscle weakness, Hypertension, Dista... |
ORPHA:139417 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hem... |
OMIM:175780 |
Familial Cerebral Cavernous Malformation |
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Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Pmm2-Cdg |
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Pericarditis, Multiple joint contractures, Angina pectoris, Lymphedema, Pericardial effusion, Int... |
ORPHA:79318 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Congenital pyloric atresia, Intestinal atresia |
ORPHA:79403 |
Hardikar Syndrome |
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Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Esophageal varix, Bilater... |
OMIM:301068 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
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Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
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Congenital pyloric atresia |
ORPHA:158684 |
Williams Syndrome |
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Colonic diverticula, Peptic ulcer, Malabsorption, Abnormal gastric mucosa morphology, Rectal prol... |
ORPHA:904 |