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 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Pyloric stenosis, Abnormal intestine morphology |
ORPHA:2978 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Gastric adenocarcinoma, Fundic gland polyposis, Melena |
OMIM:619182 |
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development |
|
Hiatus hernia |
OMIM:272000 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Aneurysm, Intracranial Berry, 12 |
|
Fusiform cerebral aneurysm, Arterial fibromuscular dysplasia, Cerebral berry aneurysm, Subarachno... |
OMIM:618734 |
Esophageal Ring, Lower |
|
Hiatus hernia, Dysphagia |
OMIM:133240 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
Anus, Imperforate |
|
Anal atresia |
OMIM:207500 |
Colorectal Cancer |
|
Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma |
OMIM:114500 |
Circumvallate Placenta Syndrome |
|
Polyhydramnios, Intracranial hemorrhage |
OMIM:215550 |
Familial Cervical Artery Dissection |
|
Cerebral ischemia, Transient ischemic attack, Facial palsy, Arterial fibromuscular dysplasia, Hyp... |
ORPHA:36382 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Bicuspid aortic valve, Stroke, Cerebral hemorrhage |
OMIM:300049 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
Aneurysm, Intracranial Berry, 1 |
|
Dilatation of the cerebral artery, Intracranial hemorrhage |
OMIM:105800 |
Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
Hernia, Hiatus |
|
Hiatus hernia |
OMIM:142400 |
Snakebite Envenomation |
|
Hypotension, Rhabdomyolysis, Cerebral ischemia, Cardiogenic shock, Abnormal bleeding, Intracrania... |
ORPHA:449285 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Moyamoya phenomenon, Ischemic stroke, Cerebral hemorrhage, Short stature, Dilated cardiomyopathy,... |
ORPHA:280679 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Moyamoya phenomenon, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Short stature, D... |
OMIM:300845 |
Moderate Hemophilia A |
|
Hip contracture, Subcutaneous hemorrhage, Epidural hemorrhage, Abnormal bleeding, Intracranial he... |
ORPHA:169805 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissection, Carotid a... |
ORPHA:91387 |
Severe Hemophilia A |
|
Persistent bleeding after trauma, Epidural hemorrhage, Intracranial hemorrhage, Bruising suscepti... |
ORPHA:169802 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Cerebral edema, Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Transi... |
ORPHA:284388 |
Dural Sinus Malformation |
|
Cerebellar hemorrhage, Cerebral edema, Vascular dilatation, Cerebral hemorrhage, Carotid cavernou... |
ORPHA:97339 |
Serrated Polyposis Syndrome |
|
Gastric diverticulum, Colorectal polyposis, Neoplasm of the large intestine, Biliary tract neopla... |
ORPHA:157798 |
Familial Cerebral Saccular Aneurysm |
|
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Abnormal circle of Willis morph... |
ORPHA:231160 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Hemoperitoneum, Subcutaneous hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Persistent ... |
ORPHA:465 |
Sneddon Syndrome |
|
Ischemic stroke, Cerebral hemorrhage, Bicuspid aortic valve, Hypertension, Stroke, Facial palsy |
OMIM:182410 |
Glanzmann Thrombasthenia 1 |
|
Purpura, Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Subdural hemorr... |
OMIM:273800 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage, Arterial stenosis |
ORPHA:820 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Intracranial ... |
ORPHA:136 |
Brain Small Vessel Disease 2 |
|
Growth delay, Intracranial hemorrhage |
OMIM:614483 |
Left Ventricular Noncompaction 1 |
|
Patent ductus arteriosus, Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia... |
OMIM:604169 |
Abetal34V Amyloidosis |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324703 |
Congenital Factor Ii Deficiency |
|
Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracranial hemorr... |
ORPHA:325 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Stroke, Intracranial hemorrhage, Cerebral hemorrhage |
OMIM:105150 |
Hemophilia A |
|
Intracranial hemorrhage, Bleeding with minor or no trauma, Oral cavity bleeding, Joint swelling, ... |
ORPHA:98878 |
Pseudo-Torch Syndrome 2 |
|
Patent ductus arteriosus, Cerebral hemorrhage, Petechiae, Secundum atrial septal defect, Pleural ... |
OMIM:617397 |
Congenital Factor V Deficiency |
|
Persistent bleeding after trauma, Post-partum hemorrhage, Intracranial hemorrhage, Bruising susce... |
ORPHA:326 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Retinal hemorrhage, Peau d'orange, Cerebral hemorrhage, Premature occlusive vascular stenosis, Mi... |
OMIM:177850 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency, Ed... |
ORPHA:624 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Telangiectasia, Cerebral hemorrhage |
OMIM:603284 |
Congenital Factor Xiii Deficiency |
|
Cerebral hemorrhage, Subcutaneous hemorrhage, Post-partum hemorrhage, Persistent bleeding after t... |
ORPHA:331 |
Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Abnormality of the pulmonary arter... |
ORPHA:90308 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Vitreous hemorrhage, Hip contracture, Cerebral hemorrhage, Intracranial hemor... |
ORPHA:464321 |
Extracranial Carotid Artery Aneurysm |
|
Cerebral ischemia, Atherosclerosis, Arterial fibromuscular dysplasia, Arteritis, Hypertension, Up... |
ORPHA:494424 |
Acquired Von Willebrand Syndrome |
|
Hypotension, Persistent bleeding after trauma, Subcutaneous hemorrhage, Intracranial hemorrhage, ... |
ORPHA:99147 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,... |
ORPHA:263665 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syn... |
ORPHA:90065 |
Factor Vii Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Menorrhagia, Intr... |
OMIM:227500 |
Abeta Amyloidosis, Iowa Type |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324708 |
Methanol Poisoning |
|
Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemorrhage, Inflammatory arterio... |
ORPHA:31825 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Factor Xiii, A Subunit, Deficiency Of |
|
Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracran... |
OMIM:613225 |
Familial Afibrinogenemia |
|
Cerebral hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding, Joint swelling |
ORPHA:98880 |
Fetal Gaucher Disease |
|
Hydrops fetalis, Flexion contracture, Intracranial hemorrhage, Stillbirth, Neonatal death, Arthro... |
ORPHA:85212 |
Primary Angiitis Of The Central Nervous System |
|
Transient ischemic attack, Stroke, Cerebral vasculitis, Intracranial hemorrhage |
ORPHA:140989 |
Afibrinogenemia, Congenital |
|
Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptibilit... |
OMIM:202400 |
Fibronectin Glomerulopathy |
|
Pedal edema, Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Joubert Syndrome 14 |
|
Meningocele, Encephalocele, Ventricular septal defect, Hypertension, Intracranial hemorrhage, Gro... |
OMIM:614424 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Tracheoesophageal fistula, Esophageal atresia |
OMIM:189960 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Craniofaciofrontodigital Syndrome |
|
Polyhydramnios, Abnormal cerebral vascular morphology, Pericardial effusion, Persistent fetal cir... |
ORPHA:363705 |
Propionic Acidemia |
|
Cerebellar hemorrhage, Short stature, Limb hypertonia, Dehydration, Cardiomyopathy |
OMIM:606054 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Purpura, Cerebral hemorrhage |
OMIM:614514 |
Hemophilia B |
|
Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Delayed onset bleeding, Cephalohematom... |
ORPHA:98879 |
Factor X Deficiency |
|
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Menorrhagia, Prolonged prothrombin time, I... |
OMIM:227600 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Polyhydramnios, Flexion contracture, Multiple joint contractures, Spina bifida occulta, Subdural ... |
OMIM:618291 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Spo... |
ORPHA:1876 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Ventricular septal defect, Intracranial... |
ORPHA:369929 |
Wyburn-Mason Syndrome |
|
Vascular dilatation, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Arteriovenous ma... |
ORPHA:53719 |
Immune Thrombocytopenia |
|
Petechiae, Cerebral hemorrhage, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G... |
ORPHA:3002 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
Congenital Factor Vii Deficiency |
|
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... |
ORPHA:327 |
Combined Deficiency Of Factor V And Factor Viii |
|
Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc... |
ORPHA:35909 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Cerebellar hemorrhage, Sudden cardiac death, Cerebral edema, Dilated cardiomyopathy, Congestive h... |
ORPHA:99901 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal stenosis |
OMIM:619817 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Petechiae, Abnormal bleeding, Purpura, Intracranial hemorrhage, Ecchymosis, Cephalohematoma, Gast... |
ORPHA:853 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Gastric varix |
OMIM:613490 |
Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Hypertension, Intracranial hemorrhage, Epistaxis, Prolonged QT inte... |
ORPHA:251274 |
Congenital Factor X Deficiency |
|
Prolonged bleeding after surgery, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, ... |
ORPHA:328 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... |
ORPHA:79 |
Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells |
OMIM:256150 |
Cantu Syndrome |
|
Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effus... |
OMIM:239850 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal... |
OMIM:614702 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Menkes Disease |
|
Intracranial hemorrhage, Intrauterine growth retardation, Short stature |
OMIM:309400 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Intracranial hemorrhage, Bruising susceptibility, Lymphedema |
ORPHA:3226 |
Dengue Fever |
|
Hypotension, Cerebral hemorrhage, Petechiae, Bruising susceptibility, Epistaxis, Gingival bleedin... |
ORPHA:99828 |
Acquired Purpura Fulminans |
|
Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Shock, Prolonged prothrombin time |
ORPHA:49566 |
Hydrops Fetalis |
|
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Ab... |
ORPHA:1041 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Cardiomyopathy, Dehydration |
OMIM:251000 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Multiple gastric pol... |
ORPHA:2494 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Glycogen Storage Disease Ii |
|
Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Firm muscles, Macrogloss... |
OMIM:232300 |
Mirage Syndrome |
|
Patent ductus arteriosus, Short stature, Petechiae, Intracranial hemorrhage, Intrauterine growth ... |
OMIM:617053 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Hypophosphatasia, Infantile |
|
Polyhydramnios, Disproportionate short-limb short stature, Intracranial hemorrhage, Stillbirth |
OMIM:241500 |
Parkes Weber Syndrome |
|
Vascular dilatation, Bounding pulse, Lower limb muscle weakness, Arteriovenous malformation, Cere... |
ORPHA:90307 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic root aneurysm, Aortic atherosclerotic lesion, Ventricular hypertrophy, Abnormality of the ... |
ORPHA:363618 |
Hereditary Hemorrhagic Telangiectasia |
|
Pulmonary arterial hypertension, Pulmonary embolism, Mucosal telangiectasiae, Cerebral hemorrhage... |
ORPHA:774 |
Neurocutaneous Melanocytosis |
|
Meningocele, Intracranial hemorrhage |
ORPHA:2481 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Epidural hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis... |
ORPHA:464329 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage, Dehydration |
OMIM:243500 |
Autoerythrocyte Sensitization Syndrome |
|
Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Edema, Oral cavity bleed... |
ORPHA:324636 |
Lethal Congenital Contracture Syndrome 5 |
|
Retinal hemorrhage, Polyhydramnios, Flexion contracture, Centrally nucleated skeletal muscle fibe... |
OMIM:615368 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage |
ORPHA:398189 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Telangiectasia, Short stature, Subcutaneous hemorrhage, Arteriovenous malformation, Lymphedema, A... |
ORPHA:109 |
Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
Tempi Syndrome |
|
Transudative pleural effusion, Ascites, Telangiectasia, Intracranial hemorrhage |
ORPHA:284227 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis |
ORPHA:664 |
Aspergillosis |
|
Pleural effusion, Stroke, Intracranial hemorrhage |
ORPHA:1163 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Growth delay, Abnormal heart morphology, Intraventricular hemorrhage, Intrauterine growth retarda... |
ORPHA:79284 |
Erythrocytosis, Familial, 2 |
|
Pulmonary arterial hypertension, Hypotension, Cerebral hemorrhage, Stroke, Varicose veins |
OMIM:263400 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Short stature, Heart murmur, Interrupted aor... |
ORPHA:163979 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Pulmonary embolism, Hydrops fetalis, Dilated cardiomyopathy, Sub... |
ORPHA:79282 |
Menkes Disease |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Vascular dilatation, Abnormal carotid arter... |
ORPHA:565 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Cerebral hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged... |
OMIM:277450 |
Familial Hyperaldosteronism Type I |
|
Epistaxis, Hypertension, Intracranial hemorrhage |
ORPHA:403 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Venous varicosities of celiac and mesenteric vessels, Dilatation of mesenteric artery, Palate tel... |
OMIM:610655 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Stomach cancer, Colorectal polyposis, Multiple gastric polyps, Neoplasm of the rectum, Juvenile g... |
ORPHA:480536 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... |
OMIM:617300 |
Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology |
ORPHA:281090 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Antenatal intracerebral hemorrhage, Cerebral hemorrhage, Short stature, Bicuspid aortic valve, Ao... |
ORPHA:536545 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia |
OMIM:277175 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage, Budd-Chiari syndrome |
OMIM:263300 |
Cocaine Intoxication |
|
Hypotension, Ischemic stroke, Cerebral hemorrhage, Pulmonary edema, Hypovolemia, Ventricular arrh... |
ORPHA:90068 |
Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Hypertension, Intracranial hemorrhage |
ORPHA:404 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad ... |
OMIM:187300 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Knee flexion contracture, Elbow flexion contracture, Dilated ... |
OMIM:608836 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Hypertension, Cerebral hemorrhage |
OMIM:133100 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Biventricular h... |
OMIM:261740 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Short stature, Limb hypertonia, Oligohydramnios, Increased nuchal translucency, Fetal intraventri... |
OMIM:618480 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Pericardial effusion, Tachycardia, Abnormal left ventricular functio... |
ORPHA:99827 |
Stormorken Syndrome |
|
Short stature, Abnormal bleeding, Bruising susceptibility, Epistaxis, Stroke-like episode, Myopat... |
OMIM:185070 |
Gist-Plus Syndrome |
|
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis |
OMIM:175510 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the stomach, Neoplasm of the gastrointestinal tract, Esophageal neoplasm, Neoplasm of... |
ORPHA:44890 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... |
ORPHA:555874 |
Idiopathic Hypereosinophilic Syndrome |
|
Pulmonary embolism, Transient ischemic attack, Supraventricular arrhythmia, Raynaud phenomenon, I... |
ORPHA:3260 |
Loeys-Dietz Syndrome 3 |
|
Aortic tortuosity, Ventricular hypertrophy, Camptodactyly, Ascending aortic dissection, Thoracic ... |
OMIM:613795 |
Cerebral Amyloid Angiopathy, App-Related |
|
Cerebellar hemorrhage, Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorr... |
OMIM:605714 |
Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... |
OMIM:618773 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Colon... |
OMIM:174900 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... |
OMIM:171420 |
Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Pulmonary edema, Petechiae, Intracranial hemorrhage, Internal hemorrhage, Ecchymosis... |
ORPHA:340 |
Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis |
OMIM:188025 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Subarachnoid hemorrhage, Cerebral vasculitis, Growth delay |
OMIM:243700 |
Bronchogenic Cyst |
|
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia |
ORPHA:2357 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous, recurren... |
OMIM:600376 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke |
ORPHA:447788 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Hypertension, Intracranial hemorrhage, Epistaxis, Palpitations |
ORPHA:231625 |
Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Petechiae, Purpura, Intracranial hemorrhage, Bruising susceptibility, Inter... |
ORPHA:906 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Colorectal polyposis, Adenocarcinoma of the colon, L... |
ORPHA:220460 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... |
OMIM:300048 |
Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Left ventricular diastolic dysfunction, Atherosclerosis, Angina pectoris... |
ORPHA:740 |
Hydranencephaly |
|
Antenatal intracerebral hemorrhage, Dilatation of the ventricular cavity, Abnormal cerebral arter... |
ORPHA:2177 |
Hellp Syndrome |
|
Hypotension, Cerebral hemorrhage, Pulmonary edema, Internal hemorrhage, Pleural effusion, Prolong... |
ORPHA:244242 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypertrophic cardi... |
OMIM:618775 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:276621 |
Osteogenesis Imperfecta, Type Xvii |
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Intraventricular hemorrhage, Decreased muscle mass, Short stature |
OMIM:616507 |
Viss Syndrome |
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Aortic tortuosity, Polyhydramnios, Ascending tubular aorta aneurysm, Carotid artery dilatation, C... |
OMIM:619472 |
Cockayne Syndrome Type 3 |
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Aortic root aneurysm, Retinal hemorrhage, Flexion contracture, Mild postnatal growth retardation,... |
ORPHA:90324 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
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Pyloric stenosis |
OMIM:133705 |
Pheochromocytoma |
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Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Renal artery sten... |
OMIM:171300 |
Classic Homocystinuria |
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Pulmonary embolism, Cerebral ischemia, Subcutaneous hemorrhage, Arteriovenous malformation, Intra... |
ORPHA:394 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
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Intraventricular hemorrhage, Neonatal death, Intrauterine growth retardation, Prolonged prothromb... |
OMIM:619055 |
Osteogenesis Imperfecta |
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Aortic root aneurysm, Flexion contracture, Rhizomelia, Cerebral hemorrhage, Short stature, Mitral... |
ORPHA:666 |
Scleroderma |
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Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intestine morphology, Ab... |
ORPHA:801 |
Cardiac-Urogenital Syndrome |
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Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... |
OMIM:618280 |
Pulmonary Capillary Hemangiomatosis |
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Elevated pulmonary artery pressure, Pedal edema, Hemothorax, Pulmonary edema, Pericardial effusio... |
ORPHA:199241 |
Systemic Sclerosis |
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Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intestine morphology, Ab... |
ORPHA:90291 |
Microcephalic Primordial Dwarfism, Montreal Type |
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Congenital pyloric atresia |
ORPHA:2617 |
1P31P32 Microdeletion Syndrome |
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Intraventricular hemorrhage, Moyamoya phenomenon |
ORPHA:401986 |
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 |
Hereditary Pheochromocytoma-Paraganglioma |
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Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:29072 |
Hepatoportal Sclerosis |
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Esophageal varix, Gastrointestinal hemorrhage, Hepatocellular carcinoma, Gastric varix |
ORPHA:64743 |
Arachnoid Cyst |
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Subarachnoid hemorrhage, Encephalocele, Lower limb muscle weakness, Facial palsy |
ORPHA:2356 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Hypertension, Intracranial hemorrhage, Short stature |
ORPHA:90795 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Ventricular septal defect, Hand muscle atrophy, Spina bifida, Bicuspid aortic valve, Aortic aneur... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Ventricular septal defect, Hand muscle atrophy, Spina bifida, Bicuspid aortic valve, Aortic aneur... |
ORPHA:363958 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
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Skeletal muscle hypertrophy, Subdural hemorrhage, Intrauterine growth retardation, Short stature |
OMIM:619714 |
Cardiac Valvular Dysplasia 1 |
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Hypoplasia of right ventricle, Tricuspid regurgitation, Patent foramen ovale, Left aortic arch wi... |
OMIM:212093 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Retinal hemorrhage, Subdural hemorrhage |
ORPHA:25 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge... |
OMIM:619313 |
Microgastria-Limb Reduction Defect Syndrome |
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Gastroesophageal reflux, Esophageal atresia, Perineal fistula, Anal atresia, Tracheoesophageal fi... |
ORPHA:2538 |
Superficial Siderosis |
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Abnormal vertebral artery morphology, Lower limb muscle weakness, Arteriovenous malformation, Abn... |
ORPHA:247245 |
Dpagt1-Cdg |
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Flexion contracture, Camptodactyly, Intracranial hemorrhage, Stroke-like episode, Prolonged QT in... |
ORPHA:86309 |
Congenital Tracheal Stenosis |
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Morphological abnormality of the gastrointestinal tract, Abnormal stomach morphology, Anal atresi... |
ORPHA:141127 |
Autoinflammatory Disease, Systemic, X-Linked |
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Cerebral hemorrhage |
OMIM:301081 |
Abeta Amyloidosis, Dutch Type |
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Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
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Polyhydramnios, Intraventricular hemorrhage |
OMIM:613603 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
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Congenital pyloric atresia, Esophageal atresia |
OMIM:226730 |
Reynolds Syndrome |
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Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia |
ORPHA:779 |
Acute Liver Failure |
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Hypotension, Cerebral edema, Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility,... |
ORPHA:90062 |
Nelson Syndrome |
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Hypertension, Quadriceps muscle atrophy, Intracranial hemorrhage, Lower limb muscle weakness |
ORPHA:199244 |
Medulloblastoma |
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Cerebellar hemorrhage |
ORPHA:616 |
Metachromatic Leukodystrophy |
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Abnormal duodenum morphology, Intussusception, Abnormal stomach morphology, 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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Polyhydramnios, Ventricular hypertrophy, Pericardial effusion, Medial calcification of large arte... |
ORPHA:51608 |
Witteveen-Kolk Syndrome |
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Polyhydramnios, Short stature, Intracranial hemorrhage, Congenital diaphragmatic hernia, Growth d... |
OMIM:613406 |
Riddle Syndrome |
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Intraventricular hemorrhage, Conjunctival telangiectasia, 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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Lower limb muscle weakness, Cerebral hemorrhage, Syncope, Upper limb muscle weakness, Facial palsy |
ORPHA:2495 |
Acute Transverse Myelitis |
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Hypertension, Upper limb muscle weakness, Distal lower limb muscle weakness, Orthostatic hypotens... |
ORPHA:139417 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Retinal hemorrhage, Ischemic stroke, Cerebral hemorrhage, Dilation of Virchow-Robin spaces, Retin... |
OMIM:175780 |
Familial Cerebral Cavernous Malformation |
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Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Pmm2-Cdg |
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Multiple joint contractures, Lymphedema, Pericardial effusion, Intracranial hemorrhage, Angina pe... |
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, Esophageal varix, Intestinal malrotation, Celiac disease, Gastric varix, Hemat... |
OMIM:301068 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
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Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
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Congenital pyloric atresia |
ORPHA:158684 |
Williams Syndrome |
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Abnormal gastric mucosa morphology, Gastroesophageal reflux, Peptic ulcer, Colonic diverticula, M... |
ORPHA:904 |