Polyposis, gastric |
|
Multiple gastric polyps |
OMIM:175020 |
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 |
Colonic Varices Without Portal Hypertension |
|
Colonic varices, Intestinal bleeding |
OMIM:120440 |
Gastric Volvulus, Intrathoracic |
|
Hiatus hernia, Volvulus |
OMIM:137210 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology |
ORPHA:2978 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Fundic gland polyposis, Gastric adenocarcinoma, Melena |
OMIM:619182 |
Sucrosuria, Hiatus Hernia And Mental Retardation |
|
Hiatus hernia |
OMIM:272000 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Cerebral berry aneurysm, Subarachnoid hemorrhage, Arterial fi... |
OMIM:618734 |
Esophageal Ring, Lower |
|
Hiatus hernia, Dysphagia |
OMIM:133240 |
Internal Carotid Absence |
|
Cerebral ischemia, Dilatation of the cerebral artery, Subarachnoid hemorrhage |
ORPHA:981 |
Anus, Imperforate |
|
Anal atresia |
OMIM:207500 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Familial Cervical Artery Dissection |
|
Stroke, Carotid artery dissection, Transient ischemic attack, Dilatation of the cerebral artery, ... |
ORPHA:36382 |
Aneurysm, Intracranial Berry, 1 |
|
Dilatation of the cerebral artery, Intracranial hemorrhage |
OMIM:105800 |
Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
Circumvallate Placenta Syndrome |
|
Polyhydramnios, Intracranial hemorrhage |
OMIM:215550 |
Hernia, Hiatus |
|
Hiatus hernia |
OMIM:142400 |
Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Moyamoya phenomenon, Coronary artery atherosclerosis, Short stature, Hype... |
ORPHA:280679 |
Snakebite Envenomation |
|
Rhabdomyolysis, Ecchymosis, Angioedema, Stroke, Muscle fiber necrosis, Cardiogenic shock, Gingiva... |
ORPHA:449285 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Dilated cardiomyopathy, Moyamoya phenomenon, Abnormal left ventricle morphology, Short stature, C... |
OMIM:300845 |
Intrinsic Factor Deficiency |
|
Absence of intrinsic factor, Malabsorption |
OMIM:261000 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Coronary artery atherosclerosis, Hypertension, Cardiomegaly, Bruising susceptibility, Aortic regu... |
ORPHA:91387 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Cerebral edema, Vasospasm, Cerebral hemorrhage, Carotid artery dissection, Transient ischemic att... |
ORPHA:284388 |
Severe Hemophilia A |
|
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhage... |
ORPHA:169802 |
Dural Sinus Malformation |
|
Cerebral edema, Carotid cavernous fistula, Arteriovenous fistula, Stroke, Abnormal facial vein mo... |
ORPHA:97339 |
Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Subcutaneous hemorrhage, Prolonged bleeding after dental extraction,... |
ORPHA:169805 |
Familial Cerebral Saccular Aneurysm |
|
Aortic root aneurysm, Abnormal circle of Willis morphology, Aortic dissection, Intracranial hemor... |
ORPHA:231160 |
Serrated Polyposis Syndrome |
|
Colorectal polyposis, Neoplasm of the large intestine, Biliary tract neoplasm, Adenomatous coloni... |
ORPHA:157798 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Stroke, Transient ischemic attack, Cerebral ischemia, Hypertension, Lacunar stroke, Arterial sten... |
ORPHA:136 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Sneddon Syndrome |
|
Stroke, Hypertension, Bicuspid aortic valve, Cerebral hemorrhage, Facial palsy, Ischemic stroke |
OMIM:182410 |
Congenital Factor Ii Deficiency |
|
Abnormal umbilical stump bleeding, Epistaxis, Oral cavity bleeding, Prolonged bleeding following ... |
ORPHA:325 |
+173470 integrin, beta-3 |
|
Bruising susceptibility, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Ab... |
OMIM:173470 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Persistent bleeding after trauma, Epistaxis, Myocardial fibrosis, Gastrointestinal hemorrhage, Su... |
ORPHA:465 |
Familial Multiple Nevi Flammei |
|
Arrhythmia, Pulmonary embolism, Venous insufficiency, Arteriovenous malformation, Edema, Intracra... |
ORPHA:624 |
Congenital Factor V Deficiency |
|
Persistent bleeding after trauma, Bruising susceptibility, Hematochezia, Spontaneous hematomas, G... |
ORPHA:326 |
Glanzmann Thrombasthenia 1 |
|
Bruising susceptibility, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Pr... |
OMIM:273800 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Medial calcification of large arteries, Gastrointestinal hemorrhage, Retinal hemorrhage, Medial c... |
OMIM:177850 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... |
OMIM:604169 |
Klippel-Trénaunay Syndrome |
|
Abnormal tricuspid valve morphology, Gastrointestinal hemorrhage, Congestive heart failure, Atria... |
ORPHA:90308 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Oral cavity bleeding, Intramuscular hematoma, Joint hemorrhage, Blee... |
ORPHA:98878 |
Congenital Factor Xiii Deficiency |
|
Persistent bleeding after trauma, Bruising susceptibility, Spontaneous hematomas, Abnormal umbili... |
ORPHA:331 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Growth delay |
OMIM:614483 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Cerebral hemorrhage, Intracranial hemorrhage, Stroke |
OMIM:105150 |
Abetal34V Amyloidosis |
|
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology |
ORPHA:324703 |
Extracranial Carotid Artery Aneurysm |
|
Total anomalous pulmonary venous return, Stroke, Arteriosclerosis, Arteritis, Upper limb muscle w... |
ORPHA:494424 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Diffuse alveolar hemorrhage, Gastrointestinal hemorrhage, Retinal hemorrhage, Abnor... |
ORPHA:464321 |
Pseudo-Torch Syndrome 2 |
|
Petechiae, Patent ductus arteriosus, Bradycardia, Pleural effusion, Secundum atrial septal defect... |
OMIM:617397 |
Cerebral Cavernous Malformations 2 |
|
Cerebral hemorrhage, Telangiectasia, Stroke, Cerebral cavernous malformation |
OMIM:603284 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular septal hypertrophy, Ventricular fibrillation, Cardiac arrest, Stroke, Ascites, Hypert... |
OMIM:115197 |
Nk-Cell Enteropathy |
|
Hematochezia, Gastric ulcer, Intestinal polyp, Gastroesophageal reflux, Colonic diverticula, Ster... |
ORPHA:263665 |
Visceral Myopathy 2 |
|
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... |
OMIM:619350 |
Methanol Poisoning |
|
Inflammatory arteriopathy, Permanent atrial fibrillation, Myocardial infarction, Hypertension, Ce... |
ORPHA:31825 |
Factor Xiii, A Subunit, Deficiency Of |
|
Persistent bleeding after trauma, Bruising susceptibility, Abnormal umbilical stump bleeding, Ecc... |
OMIM:613225 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Congestive heart failure, Cerebral hemorrhage, ST segment depression, Myocardial infarction, Prol... |
ORPHA:90065 |
Acquired Von Willebrand Syndrome |
|
Persistent bleeding after trauma, Bruising susceptibility, Aortic valve stenosis, Gastrointestina... |
ORPHA:99147 |
Primary Angiitis Of The Central Nervous System |
|
Transient ischemic attack, Intracranial hemorrhage, Cerebral vasculitis, Stroke |
ORPHA:140989 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Tracheoesophageal fistula, Esophageal atresia |
OMIM:189960 |
Wyburn-Mason Syndrome |
|
Vascular dilatation, Peripheral arteriovenous fistula, Gingival bleeding, Arteriovenous malformat... |
ORPHA:53719 |
Fetal Gaucher Disease |
|
Flexion contracture, Hydrops fetalis, Arthrogryposis multiplex congenita, Neonatal death, Intracr... |
ORPHA:85212 |
Abeta Amyloidosis, Iowa Type |
|
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology |
ORPHA:324708 |
Hemophilia B |
|
Delayed onset bleeding, Prolonged bleeding after dental extraction, Spontaneous, recurrent epista... |
ORPHA:98879 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Second degree atrioventricular block, Pulmonary arterial hypertension, Hypertension, Ventricular ... |
ORPHA:369929 |
Fibronectin Glomerulopathy |
|
Cerebral hemorrhage, Pedal edema, Hypertension |
ORPHA:84090 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Macroglossia, Ventricular septal defect, Mitral regurgitation, Cardi... |
ORPHA:363705 |
Abeta Amyloidosis, Italian Type |
|
Cerebral hemorrhage, Stroke |
ORPHA:324713 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Abnormal gastric mucosa morphology, Malabsorption, Int... |
ORPHA:1876 |
Factor Vii Deficiency |
|
Menorrhagia, Joint hemorrhage, Abnormal bleeding, Intramuscular hematoma, Intracranial hemorrhage... |
OMIM:227500 |
Combined Deficiency Of Factor V And Factor Viii |
|
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Prolonged bleeding ... |
ORPHA:35909 |
Congenital Factor Vii Deficiency |
|
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding, ... |
ORPHA:327 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
Cerebral Cavernous Malformations 3 |
|
Cerebral hemorrhage, Cerebral cavernous malformation |
OMIM:603285 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Left ventricular hypertrophy, Intracranial hemorrhage, Epist... |
ORPHA:251274 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Cerebral hemorrhage, Pulmonary embolism, Purpura |
OMIM:614514 |
Immune Thrombocytopenia |
|
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Gingival bleeding, Cerebral hemo... |
ORPHA:3002 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Dehydration, Cardiomyopathy |
OMIM:251000 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Petechiae, Ecchymosis, Gastrointestinal hemorrhage, Purpura, Subarachnoid hemorrhage, Melena, Abn... |
ORPHA:853 |
Propionic Acidemia |
|
Cerebellar hemorrhage, Limb hypertonia, Short stature, Cardiomyopathy, Dehydration |
OMIM:606054 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Cerebral edema, Dilated cardiomyopathy, Congestive heart failure, Cerebellar hemorrhage, Hypertro... |
ORPHA:99901 |
Factor X Deficiency |
|
Menorrhagia, Gingival bleeding, Joint hemorrhage, Intramuscular hematoma, Prolonged prothrombin t... |
OMIM:227600 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Congenital Factor X Deficiency |
|
Abnormal umbilical stump bleeding, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhag... |
ORPHA:328 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Persistent bleeding after trauma, Bruising susceptibility, Abnormal umbilical stump bleeding, Gin... |
ORPHA:79 |
Brain Small Vessel Disease 3 |
|
Cerebral hemorrhage |
OMIM:618360 |
Dengue Fever |
|
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Gingival bleeding, Hypotension, ... |
ORPHA:99828 |
Ménétrier Disease |
|
Giant hypertrophic gastritis, Gastrointestinal hemorrhage, Helicobacter pylori infection, Gastroe... |
ORPHA:2494 |
Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Lymphedema, Bicuspid aortic v... |
OMIM:239850 |
Menkes Disease |
|
Short stature, Intracranial hemorrhage, Intrauterine growth retardation |
OMIM:309400 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphedema, Bruising susceptibility, Intracranial hemorrhage, Prolonged bleeding time |
ORPHA:3226 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Congestive heart failure, Aortic root aneurysm, Mitral valve calcification... |
ORPHA:363618 |
Hypophosphatasia, Infantile |
|
Disproportionate short-limb short stature, Polyhydramnios, Intracranial hemorrhage, Stillbirth |
OMIM:241500 |
Mirage Syndrome |
|
Petechiae, Intrauterine growth retardation, Patent ductus arteriosus, Short stature, Intracranial... |
OMIM:617053 |
Parkes Weber Syndrome |
|
Arteriovenous fistula, High-output congestive heart failure, Vascular tortuosity, Peripheral arte... |
ORPHA:90307 |
Kaposiform Lymphangiomatosis |
|
Subconjunctival hemorrhage, Bruising susceptibility, Ecchymosis, Pleural effusion, Abnormal lymph... |
ORPHA:464329 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Cardiomegaly, Hypertension |
OMIM:618886 |
Acquired Purpura Fulminans |
|
Macular purpura, Intracranial hemorrhage, Prolonged prothrombin time, Shock, Internal hemorrhage |
ORPHA:49566 |
Autoerythrocyte Sensitization Syndrome |
|
Bruising susceptibility, Ecchymosis, Gastrointestinal hemorrhage, Oral cavity bleeding, Menorrhag... |
ORPHA:324636 |
Hereditary Hemorrhagic Telangiectasia |
|
Portal hypertension, Mucosal telangiectasiae, Gastrointestinal hemorrhage, Congestive heart failu... |
ORPHA:774 |
Non-Functioning Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... |
ORPHA:94080 |
Familial Afibrinogenemia |
|
Gingival bleeding, Cerebral hemorrhage, Joint swelling, Abnormal bleeding, Epistaxis |
ORPHA:98880 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Short stature, Heart murmur, Ventricular septal d... |
ORPHA:163979 |
Erythrocytosis, Familial, 2 |
|
Stroke, Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage, Varicose veins |
OMIM:263400 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Intracranial hemorrhage, Lymphedema, Aortic aneurysm, Short stature, Art... |
ORPHA:109 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage, Dehydration |
OMIM:243500 |
Menkes Disease |
|
Vascular dilatation, Intrauterine growth retardation, Gastrointestinal hemorrhage, Venous insuffi... |
ORPHA:565 |
Hydrops Fetalis |
|
Arrhythmia, Nonimmune hydrops fetalis, Pleural effusion, Capillary leak, Abnormal heart morpholog... |
ORPHA:1041 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis |
ORPHA:664 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage |
ORPHA:398189 |
Tempi Syndrome |
|
Telangiectasia, Transudative pleural effusion, Intracranial hemorrhage, Ascites |
ORPHA:284227 |
Neurocutaneous Melanocytosis |
|
Meningocele, Intracranial hemorrhage |
ORPHA:2481 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Skeletal muscle atrophy, Dextrocardia, Aortic aneurysm, Short stature, M... |
ORPHA:536545 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Venous varicosities of celiac and mesenteric vessels, High-output congestive heart failure, Cereb... |
OMIM:610655 |
Aspergillosis |
|
Intracranial hemorrhage, Pleural effusion, Stroke |
ORPHA:1163 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Intrauterine growth retardation, Stroke, Hydrops fetalis, Pulmonary embol... |
ORPHA:79282 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage, Abnormal heart morphology, Growth delay, Intrauterine growth retarda... |
ORPHA:79284 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Colon cancer, Neoplasm of the rectum, Juvenile gastrointestinal polyposis, ... |
ORPHA:480536 |
Cocaine Intoxication |
|
Hypovolemia, Rhabdomyolysis, Diffuse alveolar hemorrhage, Hypotension, Myocardial infarction, Aor... |
ORPHA:90068 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
Vascular Hyalinosis |
|
Hematochezia, Subarachnoid hemorrhage, Vascular dilatation |
OMIM:277175 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... |
ORPHA:300751 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Crimean-Congo Hemorrhagic Fever |
|
Subconjunctival hemorrhage, Bundle branch block, Hypertension, Hematemesis, Subdural hemorrhage, ... |
ORPHA:99827 |
Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology |
ORPHA:281090 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Gastrointestinal hemorrhage, Nail bed telangiectasia, Cerebral arteriovenous malformation, Hepati... |
OMIM:187300 |
Lymphatic Malformation 7 |
|
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Varicose veins, Lymphedema, Edema,... |
OMIM:617300 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception |
OMIM:175510 |
Polycythemia Vera |
|
Cerebral ischemia, Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Esophageal neoplasm, Neoplasm of the gastrointestinal tract, Gastr... |
ORPHA:44890 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Arrhythmia, Increased muscle lipid content, Knee flexion contracture, Ant... |
OMIM:608836 |
Loeys-Dietz Syndrome 3 |
|
Atrial fibrillation, Ventricular hypertrophy, Mitral regurgitation, Left ventricular hypertrophy,... |
OMIM:613795 |
Idiopathic Hypereosinophilic Syndrome |
|
Vasculitis in the skin, Dilated cardiomyopathy, Angioedema, Congestive heart failure, Skeletal mu... |
ORPHA:3260 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Myocardial infarction, Hypertension |
OMIM:133100 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps,... |
ORPHA:329971 |
Congenital Tricuspid Valve Dysplasia |
|
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Syst... |
ORPHA:555874 |
Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis |
OMIM:188025 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Growth delay, Subarachnoid hemorrhage, Cerebral vasculitis |
OMIM:243700 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Colon cancer, Intussusception, Rectal prolapse, Duodenal adenocarcinoma, Multiple g... |
OMIM:174900 |
Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Adenocarcinoma of the colon, Adenomatous colonic polyposis, Duodenal polypo... |
ORPHA:220460 |
Hemorrhagic Fever-Renal Syndrome |
|
Subconjunctival hemorrhage, Petechiae, Ecchymosis, Shock, Hypotension, Pleural effusion, Capillar... |
ORPHA:340 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... |
OMIM:171420 |
Hutchinson-Gilford Progeria Syndrome |
|
Left ventricular systolic dysfunction, Abnormal mitral valve morphology, Abnormal aortic valve mo... |
ORPHA:740 |
Hydranencephaly |
|
Intrauterine growth retardation, Abnormal internal carotid artery morphology, Dilatation of the v... |
ORPHA:2177 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
Bronchogenic Cyst |
|
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia |
ORPHA:2357 |
Wiskott-Aldrich Syndrome |
|
Hematochezia, Bruising susceptibility, Petechiae, Recurrent intrapulmonary hemorrhage, Arrhythmia... |
ORPHA:906 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke |
ORPHA:447788 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Nail bed telangiectasia, Cerebral arteriovenous malformation, Hepatic arteriovenous malformation,... |
OMIM:600376 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... |
OMIM:115200 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma... |
OMIM:300048 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pyloric stenosis |
OMIM:614262 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Hypertension, Palpitations, Intracranial hemorrhage, Epistaxis |
ORPHA:231625 |
Viss Syndrome |
|
Carotid artery tortuosity, Double outlet right ventricle, Macroglossia, Ventricular septal defect... |
OMIM:619472 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Pyloric stenosis |
OMIM:226700 |
Hellp Syndrome |
|
Hypotension, Pleural effusion, Internal hemorrhage, Cerebral hemorrhage, Prolonged prothrombin ti... |
ORPHA:244242 |
Cerebral Amyloid Angiopathy, App-Related |
|
Stroke, Cerebellar hemorrhage, Tortuous cerebral arteries, Cerebral ischemia, Recurrent cerebral ... |
OMIM:605714 |
Cockayne Syndrome Type 3 |
|
Flexion contracture, Stroke, Retinal hemorrhage, Aortic root aneurysm, Skeletal muscle atrophy, V... |
ORPHA:90324 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... |
ORPHA:276621 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect, Persiste... |
OMIM:618775 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Subcutaneous hemorrhage, Pulmonary embolism, Hypertension, Arteriove... |
ORPHA:394 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Pyloric stenosis |
OMIM:133705 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Short stature, Decreased muscle mass |
OMIM:616507 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Bruising susceptibility, Flexion contracture, Aortic regurgitati... |
ORPHA:666 |
Pericardial Effusion, Chronic |
|
Retinal arteriolar tortuosity, Constrictive pericarditis, Pericardial effusion |
OMIM:260900 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Abnormal pulmonary vein morphology, Pleural effusion, Elevated pulmo... |
ORPHA:199241 |
Scleroderma |
|
Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, ... |
ORPHA:801 |
Pheochromocytoma |
|
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... |
OMIM:171300 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Congenital pyloric atresia |
ORPHA:2617 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
High palate, Pyloric stenosis |
ORPHA:314575 |
Systemic Sclerosis |
|
Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, ... |
ORPHA:90291 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Neonatal death, Prolonged prothrombin time, Intrauterine growth reta... |
OMIM:619055 |
Periventricular Nodular Heterotopia |
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Gastroesophageal reflux, Pyloric stenosis |
ORPHA:98892 |
Hereditary Pheochromocytoma-Paraganglioma |
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Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... |
ORPHA:29072 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Hand muscle atrophy, Atrial septal defect, Pulmonic stenosis, Abnormal heart morphology, Spina bi... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Hand muscle atrophy, Atrial septal defect, Pulmonic stenosis, Abnormal heart morphology, Spina bi... |
ORPHA:363958 |
Arachnoid Cyst |
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Lower limb muscle weakness, Facial palsy, Subarachnoid hemorrhage, Encephalocele |
ORPHA:2356 |
Hepatoportal Sclerosis |
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Esophageal varix, Hepatocellular carcinoma, Gastrointestinal hemorrhage, Gastric varix |
ORPHA:64743 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
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Short stature, Subdural hemorrhage, Intrauterine growth retardation, Skeletal muscle hypertrophy |
OMIM:619714 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Intracranial hemorrhage, Short stature, Hypertension |
ORPHA:90795 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
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Pyloric stenosis |
OMIM:617219 |
Superficial Siderosis |
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Persistent bleeding after trauma, Abnormal vertebral artery morphology, Lower limb muscle weaknes... |
ORPHA:247245 |
Aneurysm Of Sinus Of Valsalva |
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Aortic regurgitation, Stroke, Congestive heart failure, Bacterial endocarditis, Heart murmur, Dil... |
ORPHA:1054 |
Congenital Tracheal Stenosis |
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Abnormal stomach morphology, Morphological abnormality of the gastrointestinal tract, Tracheoesop... |
ORPHA:141127 |
Harrod Syndrome |
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High palate, Malrotation of small bowel, Aganglionic megacolon, High, narrow palate, Pyloric sten... |
OMIM:601095 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
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Congenital pyloric atresia, Esophageal atresia |
OMIM:226730 |
Microgastria-Limb Reduction Defect Syndrome |
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Hiatus hernia, Rectovaginal fistula, Microgastria, Intestinal malrotation, Gastroesophageal reflu... |
ORPHA:2538 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
Dpagt1-Cdg |
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Anasarca, Flexion contracture, Prolonged QT interval, Camptodactyly, Stroke-like episode, Intracr... |
ORPHA:86309 |
Reynolds Syndrome |
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Gastroesophageal reflux, Xerostomia, Dysphagia, Abnormal gastric mucosa morphology |
ORPHA:779 |
Metachromatic Leukodystrophy |
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Abnormal stomach morphology, Intussusception, Abnormal duodenum morphology, Neoplasm of the gallb... |
ORPHA:512 |
Acute Liver Failure |
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Cerebral edema, Bruising susceptibility, Gastrointestinal hemorrhage, Shock, Hypotension, Abnorma... |
ORPHA:90062 |
Abeta Amyloidosis, Dutch Type |
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Cerebral hemorrhage, Stroke |
ORPHA:100006 |
Nelson Syndrome |
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Lower limb muscle weakness, Intracranial hemorrhage, Hypertension, Quadriceps muscle atrophy |
ORPHA:199244 |
Medulloblastoma |
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Cerebellar hemorrhage |
ORPHA:616 |
Acys Amyloidosis |
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Cerebral hemorrhage, Stroke |
ORPHA:100008 |
Generalized Arterial Calcification Of Infancy |
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Left ventricular systolic dysfunction, Hypertension, Weak pulse, Ascites, Ventricular hypertrophy... |
ORPHA:51608 |
Microgastria-Limb Reduction Defects Association |
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Intestinal malrotation, Gastroesophageal reflux, Aganglionic megacolon, Microgastria |
OMIM:156810 |
Meningioma |
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Cerebral hemorrhage, Lower limb muscle weakness, Upper limb muscle weakness, Syncope, Facial palsy |
ORPHA:2495 |
Riddle Syndrome |
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Intraventricular hemorrhage, Telangiectasia, Short stature, Conjunctival telangiectasia |
ORPHA:420741 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Intracranial hemorrhage |
ORPHA:91350 |
Esophageal Atresia |
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Morphological abnormality of the gastrointestinal tract, Gastrointestinal carcinoma, Gastrointest... |
ORPHA:1199 |
Chronic Granulomatous Disease |
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Malabsorption, Tracheoesophageal fistula, Pyloric stenosis |
ORPHA:379 |
Acute Transverse Myelitis |
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Orthostatic hypotension, Upper limb muscle weakness, Hypertension, Distal lower limb muscle weakn... |
ORPHA:139417 |
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis |
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Pleural effusion, Hypertension, Granulomatous coronary arteritis, Vascular dilatation, Pericardia... |
OMIM:108050 |
Familial Cerebral Cavernous Malformation |
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Cerebral hemorrhage, Venous malformation |
ORPHA:221061 |
Pmm2-Cdg |
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Anasarca, Multiple joint contractures, Hypertrophic cardiomyopathy, Lymphedema, Pericarditis, Ang... |
ORPHA:79318 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Retinal arteriolar tortuosity, Cerebral hemorrhage, Corneal neovascularization, Facial paralysis,... |
OMIM:175780 |
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, Unilateral cleft palate, Esophageal varix, Celiac dise... |
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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Gastroesophageal reflux, Tracheoesophageal fistula, Colonic diverticula, Macroglossia, Rectal pro... |
ORPHA:904 |