Von Willebrand Disease, X-Linked Form |
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Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Tatsumi Factor Deficiency |
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Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Athrombia, Essential |
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Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... |
OMIM:209050 |
Glanzmann Thrombasthenia 2 |
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Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
Congenital Factor X Deficiency |
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Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Bleeding Disorder, Platelet-Type, 18 |
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Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:615888 |
Glanzmann Thrombasthenia |
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Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... |
ORPHA:849 |
Glanzmann Thrombasthenia 1 |
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Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... |
OMIM:273800 |
Bleeding Disorder, Platelet-Type, 11 |
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Prolonged bleeding time, Epistaxis, Menorrhagia, Impaired collagen-induced platelet aggregation, ... |
OMIM:614201 |
Pseudo-Von Willebrand Disease |
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Prolonged bleeding time |
OMIM:177820 |
Congenital Alpha2-Antiplasmin Deficiency |
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Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Alpha-2-Plasmin Inhibitor Deficiency |
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Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax |
OMIM:262850 |
Bernard-Soulier Syndrome |
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Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
Bleeding Disorder, Platelet-Type, 14 |
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Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
Factor V Deficiency |
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Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
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Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... |
ORPHA:465 |
Prothrombin Deficiency, Congenital |
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Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Pulmonary Arteriovenous Malformation |
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Abnormal bleeding, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Dy... |
ORPHA:2038 |
Von Willebrand Disease, Type 3 |
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Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
Platelet Glycoprotein Iv Deficiency |
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Abnormal bleeding, Prolonged bleeding time |
OMIM:608404 |
Hemophilia B |
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Prolonged bleeding time, Spontaneous, recurrent epistaxis, Menometrorrhagia, Prolonged bleeding a... |
ORPHA:98879 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
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Abnormal bleeding, Prolonged bleeding time, Epistaxis, Myocardial infarction, Impaired ADP-induce... |
OMIM:155100 |
Pulmonary Capillary Hemangiomatosis |
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Pulmonary edema, Right ventricular failure, Diffuse alveolar hemorrhage, Pulmonary capillary hema... |
ORPHA:199241 |
Hermansky-Pudlak Syndrome 7 |
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Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... |
OMIM:614076 |
Von Willebrand Disease, Type 1 |
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Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Slc35A1-Cdg |
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Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Pneumonia, Hypoxemia, Subcutane... |
ORPHA:238459 |
Gray Platelet Syndrome |
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Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... |
OMIM:139090 |
Platelet Disorder, Undefined |
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Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:173420 |
Klippel-Trénaunay Syndrome |
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Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Pulmonary embolism, Abnormali... |
ORPHA:90308 |
Bleeding Disorder, Platelet-Type, 17 |
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Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:187900 |
Crimean-Congo Hemorrhagic Fever |
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Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Cholecystitis, Ecchymosis... |
ORPHA:99827 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Prolonged bleeding time, Epistaxis, Splenomegaly, Bruising susceptibility, Petechiae |
OMIM:314050 |
Congenital Factor Ii Deficiency |
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Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Myh9-Related Disease |
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Prolonged bleeding time, Spontaneous, recurrent epistaxis, Myocardial infarction, Menorrhagia, Br... |
ORPHA:182050 |
Neurofibromatosis-Noonan Syndrome |
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Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis, Cryptorchidism |
ORPHA:638 |
Blue Rubber Bleb Nevus |
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Prolonged bleeding time, Intestinal bleeding |
ORPHA:1059 |
Hermansky-Pudlak Syndrome 5 |
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Prolonged bleeding time, Metrorrhagia, Epistaxis, Impaired ADP-induced platelet aggregation, Meno... |
OMIM:614074 |
Thrombocytopenia, Paris-Trousseau Type |
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Abnormal bleeding, Prolonged bleeding time |
OMIM:188025 |
Congenital Factor Vii Deficiency |
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Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Factor X Deficiency |
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Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Aplasia Cutis Congenita |
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Prolonged bleeding time |
ORPHA:1114 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
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Prolonged bleeding time, Bruising susceptibility, Impaired platelet aggregation, Epistaxis |
OMIM:601399 |
Hermansky-Pudlak Syndrome 6 |
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Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... |
OMIM:614075 |
Storage Pool Platelet Disease |
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Abnormal bleeding, Prolonged bleeding time |
OMIM:185050 |
Long Qt Syndrome 13 |
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Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Combined Deficiency Of Factor V And Factor Viii |
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Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Thrombophilia Due To Thrombin Defect |
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Pulmonary embolism |
OMIM:188050 |
Deafness-Lymphedema-Leukemia Syndrome |
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Prolonged bleeding time, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Intracrani... |
ORPHA:3226 |
Essential Thrombocythemia |
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Splenomegaly, Prolonged bleeding time, Transient ischemic attack, Myocardial infarction |
ORPHA:3318 |
Hermansky-Pudlak Syndrome 1 |
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Prolonged bleeding time, Epistaxis, Hematochezia, Cardiomyopathy, Restrictive ventilatory defect,... |
OMIM:203300 |
Mixed Connective Tissue Disease |
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Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hepatomegaly, Myocarditis, Sp... |
ORPHA:809 |
Ehlers-Danlos Syndrome, Vascular Type |
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Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Wiskott-Aldrich Syndrome |
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Sinusitis, Intracranial hemorrhage, Internal hemorrhage, Prolonged bleeding time, Sudden cardiac ... |
ORPHA:906 |
Acquired Von Willebrand Syndrome |
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Gastrointestinal hemorrhage, Aortic regurgitation, Metrorrhagia, Epistaxis, Intracranial hemorrha... |
ORPHA:99147 |
Bleeding Disorder, Platelet-Type, 12 |
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Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... |
OMIM:605735 |
Congenital Fibrinogen Deficiency |
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Abnormal bleeding, Decreased testicular size, Tachycardia, Internal hemorrhage, Splenic rupture, ... |
ORPHA:335 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
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Abnormal bleeding, Prolonged prothrombin time, Epistaxis |
OMIM:610842 |
Dentinogenesis Imperfecta |
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Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
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Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Acquired Purpura Fulminans |
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Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage |
ORPHA:49566 |
Multiple Osteochondromas |
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Pneumothorax, Hemothorax |
ORPHA:321 |
Macs Syndrome |
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Prolonged bleeding time, Hypergonadotropic hypogonadism, Cryptorchidism, Bronchiectasis, Bruising... |
OMIM:613075 |
Osteogenesis Imperfecta, Type Xvi |
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Prolonged bleeding time, Bruising susceptibility |
OMIM:616229 |
Pulmonary Hypertension, Primary, 4 |
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Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Hepatoportal Sclerosis |
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Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperpl... |
ORPHA:64743 |
Pulmonary Hypertension, Primary, 3 |
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Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... |
OMIM:615343 |
Wiskott-Aldrich Syndrome |
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Prolonged bleeding time, Epistaxis, Hematemesis, Recurrent upper respiratory tract infections, Re... |
OMIM:301000 |
Hermansky-Pudlak Syndrome 2 |
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Prolonged bleeding time, Hepatomegaly, Splenomegaly, Impaired ADP-induced platelet aggregation, R... |
OMIM:608233 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Hematochezia, Prolonge... |
OMIM:613812 |
Bile Acid Synthesis Defect, Congenital, 4 |
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Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged prothrombin... |
OMIM:214950 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Prolonged bleeding time |
ORPHA:1901 |
Congenital Factor Xiii Deficiency |
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Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
Infantile Liver Failure Syndrome 2 |
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Cardiomyopathy, Prolonged prothrombin time, Jaundice |
OMIM:616483 |
Relapsing Fever |
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Abnormal bleeding, Tachycardia, Epistaxis, Jaundice, Prolonged prothrombin time, Hypotension, Cough |
ORPHA:91547 |
Factor Xiii, A Subunit, Deficiency Of |
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Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
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Respiratory distress, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilated cardio... |
ORPHA:367 |
Pulmonary Hypertension, Primary, 2 |
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Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni... |
OMIM:615342 |
Noonan Syndrome 9 |
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Cryptorchidism, Prolonged prothrombin time, Pulmonic stenosis |
OMIM:616559 |
Monosomy 13Q34 |
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Metrorrhagia, Epistaxis, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, Hepatic ste... |
ORPHA:96168 |
Acyl-Coa Dehydrogenase 9 Deficiency |
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Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... |
ORPHA:99901 |
Cardiac-Urogenital Syndrome |
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Accessory spleen, Prolonged bleeding time, Tachycardia, Unilateral cryptorchidism, Tracheomalacia... |
OMIM:618280 |
Infantile Liver Failure Syndrome 3 |
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Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Prolonged prothrombin time, Hepatic bridging f... |
OMIM:618641 |
Congenital Disorder Of Glycosylation, Type It |
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Hepatomegaly, Tachycardia, Sudden cardiac death, Intrahepatic cholestasis, Dyspnea, Dilated cardi... |
OMIM:614921 |
Hellp Syndrome |
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Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion, Internal hemorrha... |
ORPHA:244242 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Pleural effusion, Prolonged prothrombin time, Cirrhosis, Jaundice |
OMIM:617049 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
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Cholestasis, Prolonged prothrombin time, Portal fibrosis, Pulmonic stenosis, Hepatic steatosis |
OMIM:614300 |
Cog8-Cdg |
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Spontaneous hematomas, Prolonged prothrombin time |
ORPHA:95428 |
Classical Ehlers-Danlos Syndrome |
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Prolonged bleeding time, Orthostatic hypotension, Arterial rupture, Mitral regurgitation, Abnorma... |
ORPHA:287 |
Sialuria |
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Hepatomegaly, Upper airway obstruction, Hepatosplenomegaly, Prolonged prothrombin time, Cholelith... |
ORPHA:3166 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestasis, Abnormal intrahepatic bile duct morpho... |
ORPHA:79303 |
Liver Failure, Infantile, Transient |
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Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Prolonged prothrombin time, Macrovesicu... |
OMIM:613070 |
S-Adenosylhomocysteine Hydrolase Deficiency |
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Cardiomyopathy, Prolonged prothrombin time, Abnormality of the liver, Respiratory failure, Hepato... |
ORPHA:88618 |
3-Methylglutaconic Aciduria, Type Viib |
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Abnormal bleeding, Respiratory distress, Congestive heart failure, Recurrent pneumonia, Prolonged... |
OMIM:616271 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Respiratory insufficiency, Prolonged prothrombin time, Respiratory failure, Bile duct proliferati... |
OMIM:618329 |
Yellow Fever |
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Abnormal bleeding, Shock, Acute pancreatitis, Supraventricular arrhythmia, Excessive bleeding aft... |
ORPHA:99829 |
Isolated Biliary Atresia |
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Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Prolonged prothrombin tim... |
ORPHA:30391 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Prolonged QT interval, Dilated cardiomyopathy, Hepatic necrosis, Prolonged prothrombin time, Hype... |
ORPHA:71212 |
Tyrosinemia, Type I |
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Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Melena, Prolonged prothrombin time, Panc... |
OMIM:276700 |
Acute Liver Failure |
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Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Jaundice, Hepatitis, Hepatic necrosis, Hep... |
ORPHA:90062 |
Marburg Hemorrhagic Fever |
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Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Pan... |
ORPHA:99826 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Hepatomegaly, Acute pancreatitis, Apnea, Cardiac arrest, Jaundice, Dilated cardiomyopathy, Tachyp... |
ORPHA:20 |
Kasabach-Merritt Syndrome |
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Respiratory distress, Hyperhidrosis, Hypopnea, Prolonged prothrombin time, Hepatic hemangioma, Pe... |
ORPHA:2330 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Card... |
OMIM:212065 |
Primary Sclerosing Cholangitis |
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Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Spider hemangioma, Hepatocellular carcinom... |
ORPHA:171 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
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Intraventricular hemorrhage, Prolonged prothrombin time |
OMIM:619055 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul... |
ORPHA:309854 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Splenomegaly, Hepatomegaly, Prolonged prothrombin time, Jaundice |
OMIM:267700 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Abnormal bleeding, Gastrointestinal hemorrhage, Hepatomegaly, Jaundice, Cholestasis, Hepatospleno... |
ORPHA:247598 |
Shwachman-Diamond Syndrome 2 |
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Hepatomegaly, Prolonged prothrombin time, Hyperechogenic pancreas, Exocrine pancreatic insufficiency |
OMIM:617941 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Prolonged prothrombin time |
OMIM:603553 |
Celiac Disease, Susceptibility To, 1 |
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Prolonged prothrombin time, Infertility |
OMIM:212750 |
Abetalipoproteinemia |
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Abnormal bleeding, Hepatomegaly, Congestive heart failure, Prolonged prothrombin time, Respirator... |
ORPHA:14 |
Alg12-Cdg |
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Recurrent respiratory infections, Recurrent pharyngitis, Cryptorchidism, Recurrent pneumonia, Pro... |
ORPHA:79324 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
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Prolonged prothrombin time |
OMIM:311250 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Hepatomegaly, Recurrent respiratory infections, Nodular regenerative hyperplasia of liver, Spleno... |
ORPHA:404454 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Hepatomegaly, Splenomegaly, Prolonged prothrombin time, Increased hepatic echogenicity, Bleeding ... |
OMIM:619525 |