Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... |
OMIM:209050 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... |
OMIM:619130 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
Platelet Signal Processing Defect |
|
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... |
OMIM:173590 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:615888 |
Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... |
OMIM:619271 |
Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Reduced coagulation factor V activity, Prolonged part... |
OMIM:227400 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Reduced prothrombin consumption |
OMIM:272650 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... |
OMIM:187950 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc... |
OMIM:273800 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... |
OMIM:614201 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... |
ORPHA:849 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... |
OMIM:124900 |
Bleeding Disorder, Platelet-Type, 8 |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... |
OMIM:609821 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility... |
OMIM:614009 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Reduced von Willebrand factor activity, Reduced facto... |
OMIM:277480 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Factor X Deficiency |
|
Prolonged partial thromboplastin time, Reduced factor X activity, Epistaxis, Prolonged bleeding a... |
OMIM:227600 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Prolonged partial thromboplastin time, Epis... |
OMIM:613679 |
Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impa... |
OMIM:187800 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Prolonged partial thromboplastin time, Epistaxis, Joint hemorrhage, Prolonged ... |
ORPHA:325 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Abnormal bleeding, Reduced factor IX activity, Reduced factor X activity, Epistaxis, Prolonged pr... |
OMIM:610842 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Impaired rist... |
OMIM:231200 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Reduced von Willebrand factor activity, Impaired thro... |
OMIM:139090 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... |
OMIM:605735 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Reduced factor IX activity, Prolonged partial thromboplastin time, Epistaxis, ... |
OMIM:277450 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... |
OMIM:155100 |
Coronary Artery Dissection, Spontaneous |
|
Cystic medial necrosis, Coronary artery dissection |
OMIM:122455 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... |
OMIM:601709 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Reduced coagulation factor V activity, Reduced factor VIII activity,... |
ORPHA:35909 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... |
OMIM:617443 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Petechiae, Epistaxis, Re... |
OMIM:187900 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Reduced factor VIII activity, Epistaxis, Pr... |
OMIM:193400 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal platelet function, Thrombocytopenia |
ORPHA:231393 |
Von Willebrand Disease |
|
Abnormality of coagulation, Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Reduced factor X activity, Prolo... |
ORPHA:328 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... |
OMIM:614076 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Acquired Purpura Fulminans |
|
Hypofibrinogenemia, Prolonged partial thromboplastin time, Reduced protein C activity, Reduced pr... |
ORPHA:49566 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Prolonged bleeding time, Epistaxis, Bruising susceptibility, Impaired platelet aggregation, Abnor... |
OMIM:601399 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Petechiae, Epistaxis, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced plat... |
OMIM:153670 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Hermansky-Pudlak Syndrome 3 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... |
OMIM:614072 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Reduced von Willebrand factor activity, Reduced factor VIII activity... |
ORPHA:99147 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Prolonged prothrombin time, Abnormal umbilical stump bleeding, Gingival bleedi... |
ORPHA:335 |
Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time |
OMIM:616483 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Petechiae, Hema... |
ORPHA:274 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
Hypoplastic Left Heart Syndrome 1 |
|
Coarctation of aorta |
OMIM:241550 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Aorto-Ventricular Tunnel |
|
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... |
ORPHA:3400 |
Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Aortic dissection |
OMIM:135580 |
Immunodeficiency 81 |
|
Reduced natural killer cell activity, Reduced antigen-specific T cell proliferation, Impaired neu... |
OMIM:619374 |
Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul... |
ORPHA:229 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... |
OMIM:614075 |
Atrial Septal Defect 4 |
|
Coarctation of aorta |
OMIM:611363 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Prolonged prothrombin time, Prolonged partial thromboplastin time |
OMIM:214950 |
Noonan Syndrome 9 |
|
Prolonged prothrombin time |
OMIM:616559 |
Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time |
ORPHA:95428 |
Relapsing Fever |
|
Abnormal bleeding, Epistaxis, Hyperfibrinogenemia, Prolonged prothrombin time, Thrombocytopenia |
ORPHA:91547 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Reduced antithrombin III activity, Hypofibrinogenemia, Elevated coagulation factor V activity, Pr... |
ORPHA:88618 |
Hemophilia B |
|
Prolonged bleeding time, Reduced factor IX activity, Prolonged partial thromboplastin time, Spont... |
ORPHA:98879 |
Hermansky-Pudlak Syndrome 11 |
|
Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Impaired collagen-ind... |
OMIM:619172 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume |
OMIM:185050 |
Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal... |
OMIM:618780 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:300835 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Prolonged prothrombin time, Prolonged partial thromboplastin time, Abnormality of the coagulation... |
ORPHA:79303 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Prolonged prothrombin time |
OMIM:617049 |
Sialuria |
|
Prolonged prothrombin time, Prolonged partial thromboplastin time |
ORPHA:3166 |
Hepatoportal Sclerosis |
|
Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage, Thrombocytopenia |
ORPHA:64743 |
Liver Failure, Infantile, Transient |
|
Prolonged prothrombin time, Decreased circulating IgG level |
OMIM:613070 |
Monosomy 13Q34 |
|
Prolonged partial thromboplastin time, Epistaxis, Abnormality of the coagulation cascade, Hematoc... |
ORPHA:96168 |
Congenital Heart Defects, Multiple Types, 4 |
|
Tetralogy of Fallot, Coarctation of aorta |
OMIM:615779 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Prolonged prothrombin time |
OMIM:614300 |
Infantile Liver Failure Syndrome 3 |
|
Prolonged prothrombin time |
OMIM:618641 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Prolonged prothrombin time, Prolonged partial thromboplastin time |
ORPHA:367 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Petechiae, Epistaxis, Reduced platelet alpha granules, Increased mean pl... |
OMIM:314050 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Alg12-Cdg |
|
Prolonged partial thromboplastin time, Reduced factor XI activity, Reduced antithrombin antigen, ... |
ORPHA:79324 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology |
ORPHA:1455 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Cerebellar hemorrhage, Prolonged prothrombin time, Thrombocytopenia |
ORPHA:99901 |
Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Abnormal pl... |
ORPHA:238459 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypofibrinogenemia, Prolonged prothrombin time, Prolonged partial thromboplastin time, Thrombocyt... |
OMIM:267700 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... |
ORPHA:1209 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hematochezia, Prolonged prothrombin time |
OMIM:613812 |
Celiac Disease, Susceptibility To, 1 |
|
Prolonged partial thromboplastin time, Abnormality of the coagulation cascade, Prolonged prothrom... |
OMIM:212750 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta |
OMIM:212090 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Reduced antithrombin III activity, Prolonged partial thromboplastin time, Reduced factor XI activ... |
OMIM:212065 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Prolonged prothrombin time, Thrombocytopenia |
OMIM:616271 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Abnormal bleeding, Decreased circulating antibody... |
OMIM:604928 |
Ataxia-Pancytopenia Syndrome |
|
Abnormal platelet function, Decreased circulating antibody level |
ORPHA:2585 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypofibrinogenemia, Prolonged prothrombin time, Thrombocytopenia, Reduced natural killer cell act... |
OMIM:603553 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Hellp Syndrome |
|
Hypofibrinogenemia, Cerebral hemorrhage, Prolonged prothrombin time, Internal hemorrhage, Thrombo... |
ORPHA:244242 |
Hermansky-Pudlak Syndrome 8 |
|
Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble... |
OMIM:614077 |
Conotruncal Heart Malformations |
|
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... |
OMIM:217095 |
Shwachman-Diamond Syndrome 2 |
|
Prolonged prothrombin time, Prolonged partial thromboplastin time, Thrombocytopenia |
OMIM:617941 |
Congenital Disorder Of Glycosylation, Type It |
|
Reduced antithrombin III activity, Prolonged prothrombin time, Prolonged partial thromboplastin time |
OMIM:614921 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
Kasabach-Merritt Syndrome |
|
Hypofibrinogenemia, Thrombocytopenia, Prolonged prothrombin time, Petechiae, Purpura |
ORPHA:2330 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation |
OMIM:618372 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged prothrombin time |
ORPHA:71212 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Prolonged prothrombin time |
OMIM:618329 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Prolonged prothrombin time |
OMIM:619055 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity |
OMIM:616166 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Reduced antithrombin III activity, Reduced coagulation factor V activity, Hypofibrinogenemia, Pro... |
OMIM:619525 |
Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Total anomalous pulmonary v... |
OMIM:613854 |
Sitosterolemia 1 |
|
Abnormal bleeding, Giant platelets, Impaired platelet aggregation, Thrombocytopenia |
OMIM:210250 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Thrombocytosis, Prolonged prothrombin time |
ORPHA:20 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Prolonged prothrombin time |
OMIM:311250 |
Myh9-Related Disease |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ... |
ORPHA:182050 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Aortic Valve Disease 3 |
|
Aortic root aneurysm, Ascending aortic dissection |
OMIM:618496 |
Acute Liver Failure |
|
Abnormal bleeding, Reduced coagulation factor V activity, Increased factor VIII activity, Gastroi... |
ORPHA:90062 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Abnormality of coagulation |
ORPHA:1059 |
Aortic Valve Disease 2 |
|
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... |
OMIM:614823 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... |
OMIM:610338 |
Mgat2-Cdg |
|
Abnormal bleeding, Reduced factor XI activity, Abnormality of the common coagulation pathway, Dec... |
ORPHA:79329 |
Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Im... |
OMIM:608233 |
Isolated Biliary Atresia |
|
Prolonged prothrombin time |
ORPHA:30391 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Prolonged prothrombin time, Abnormality of coagulation |
ORPHA:309854 |
16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta |
ORPHA:261243 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Hypofibrinogenemia, Prolonged prothrombin time, Reduced factor XI activity, Reduced protein C act... |
ORPHA:404454 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Subcutaneous hemorrhage, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytope... |
OMIM:603585 |
Tyrosinemia, Type I |
|
Melena, Prolonged prothrombin time, Prolonged partial thromboplastin time, Gastrointestinal hemor... |
OMIM:276700 |
Marburg Hemorrhagic Fever |
|
Abnormal bleeding, Prolonged partial thromboplastin time, Petechiae, Excessive bleeding after a v... |
ORPHA:99826 |
Abetalipoproteinemia |
|
Abnormal bleeding, Prolonged prothrombin time |
ORPHA:14 |
Yellow Fever |
|
Abnormal bleeding, Reduced coagulation factor V activity, Hypofibrinogenemia, Excessive bleeding ... |
ORPHA:99829 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage, Decreased circulating... |
ORPHA:247598 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Prolonged partial thromboplastin time, Epistaxis, Autoimmune thrombo... |
ORPHA:324636 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aortic morphology |
ORPHA:1166 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... |
ORPHA:449400 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morphology, Tetralogy of Fallot, ... |
ORPHA:99050 |
Primary Sclerosing Cholangitis |
|
Prolonged prothrombin time, Polyclonal elevation of IgM |
ORPHA:171 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Patent du... |
ORPHA:91387 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Abnormal aortic morphology |
ORPHA:3222 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of... |
ORPHA:1457 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time |
ORPHA:638 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Abnormal coronary artery morphology, Patent ductus arter... |
ORPHA:860 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Coarctation of aorta |
ORPHA:1923 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology |
ORPHA:3405 |
Heterotaxy, Visceral, 8, Autosomal |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... |
OMIM:617205 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Abnormality of thrombocytes, Abnormal platelet morphology |
ORPHA:3318 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition... |
OMIM:620294 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Descending aortic dissection, Ascending aortic dissection |
OMIM:620080 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Hypercoagulability, Intracranial hemorrhage, Bone marrow hypocellularity... |
ORPHA:3226 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Abnormal aortic morphology |
ORPHA:2516 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Petechiae, Epistaxis, Hematemesis, ... |
ORPHA:906 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:2001 |
Diabetic Embryopathy |
|
Abnormality of the pulmonary artery, Tetralogy of Fallot, Transposition of the great arteries, Ab... |
ORPHA:1926 |
Phace Association |
|
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... |
OMIM:606519 |
Scimitar Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Descending aorta hypoplasia, ... |
ORPHA:185 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage, Hypercoagulability |
ORPHA:90308 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... |
OMIM:619702 |
Bartter Syndrome, Type 2, Antenatal |
|
Impaired platelet aggregation |
OMIM:241200 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
Chédiak-Higashi Syndrome |
|
Abnormal bleeding, Hypofibrinogenemia, Epistaxis, Increased proportion of CD25+ mast cells, Gingi... |
ORPHA:167 |
Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
Familial Bicuspid Aortic Valve |
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Aortic arch aneurysm, Ascending aortic dissection, Thoracic aorta calcification, Coarctation of a... |
ORPHA:402075 |
Holt-Oram Syndrome |
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Patent ductus arteriosus, Abnormal aortic morphology, Anomalous pulmonary venous return |
ORPHA:392 |
Hermansky-Pudlak Syndrome 1 |
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Prolonged bleeding time, Epistaxis, Hematochezia, Gingival bleeding, Ecchymosis, Bruising suscept... |
OMIM:203300 |
Leukocyte Adhesion Deficiency |
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Abnormal bleeding, Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired ne... |
ORPHA:2968 |
Right Atrial Isomerism |
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Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Transposition of the... |
OMIM:208530 |
8P23.1 Microdeletion Syndrome |
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Pulmonary artery stenosis, Patent ductus arteriosus, Abnormal aortic morphology, Transposition of... |
ORPHA:251071 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
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Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Stroke, Aortic dissect... |
OMIM:175050 |
Meacham Syndrome |
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Patent ductus arteriosus, Partial anomalous pulmonary venous return, Coarctation of aorta, Right ... |
OMIM:608978 |
Noonan Syndrome |
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Abnormal bleeding, Abnormality of coagulation, Abnormal platelet function |
ORPHA:648 |
Cardiac Diverticulum |
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Abnormal coronary artery origin, Patent ductus arteriosus, Pulmonary artery stenosis, Partial ano... |
ORPHA:1686 |
Osteogenesis Imperfecta, Type Xvi |
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Prolonged bleeding time, Bruising susceptibility |
OMIM:616229 |
Wiskott-Aldrich Syndrome |
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Prolonged bleeding time, Petechiae, Epistaxis, Reduced natural killer cell activity, Increased ci... |
OMIM:301000 |
Meacham Syndrome |
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Patent ductus arteriosus, Anomalous pulmonary venous return, Conotruncal defect, Coarctation of a... |
ORPHA:3097 |
Pseudohypoparathyroidism Type 1A |
|
Abnormal platelet function |
ORPHA:79443 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
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Absent pulmonary artery, Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta |
OMIM:600460 |
2Q37 Microdeletion Syndrome |
|
Abnormal aortic morphology |
ORPHA:1001 |
Macs Syndrome |
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Prolonged bleeding time, Bruising susceptibility |
OMIM:613075 |
Fryns Syndrome |
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Tetralogy of Fallot, Abnormal aortic arch morphology, Abnormal aortic morphology |
ORPHA:2059 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura |
ORPHA:809 |
Alport Syndrome |
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Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology |
ORPHA:63 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time |
ORPHA:1901 |
Heterotaxy, Visceral, 5, Autosomal |
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Patent ductus arteriosus, Partial anomalous pulmonary venous return, Dextrotransposition of the g... |
OMIM:270100 |
Encephalocraniocutaneous Lipomatosis |
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Abnormal aortic morphology, Interrupted aortic arch, Coarctation of aorta |
ORPHA:2396 |
Pagod Syndrome |
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Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Abnormal aortic morphology |
ORPHA:991 |
Mosaic Variegated Aneuploidy Syndrome |
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Abnormal aortic morphology, Coarctation of aorta |
ORPHA:1052 |
Holoprosencephaly |
|
Tetralogy of Fallot, Abnormal aortic morphology |
ORPHA:2162 |
Autosomal Recessive Robinow Syndrome |
|
Tetralogy of Fallot, Abnormal aortic morphology |
ORPHA:1507 |
Fanconi Anemia |
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Patent ductus arteriosus, Abnormal carotid artery morphology, Abnormal aortic morphology, Arterio... |
ORPHA:84 |
Mucopolysaccharidosis Type 2, Severe Form |
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Abnormal aortic morphology, Peripheral arterial stenosis |
ORPHA:217085 |
Mucopolysaccharidosis Type 2 |
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Abnormal aortic morphology, Peripheral arterial stenosis |
ORPHA:580 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Abnormal aortic morphology, Peripheral arterial stenosis |
ORPHA:217093 |
Igg4-Related Kidney Disease |
|
Abnormal aortic morphology, Arteritis |
ORPHA:449395 |
Classical Ehlers-Danlos Syndrome |
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Prolonged bleeding time, Ecchymosis, Bruising susceptibility |
ORPHA:287 |
Cardiac-Urogenital Syndrome |
|
Prolonged bleeding time |
OMIM:618280 |