Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Athrombia, Essential |
|
Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... |
OMIM:209050 |
Von Willebrand Disease, Platelet-Type |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Giant platelets, Prolonged bleeding time, Thrombocytopenia |
OMIM:608404 |
Glanzmann Thrombasthenia 2 |
|
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... |
OMIM:619267 |
Bleeding Disorder, Platelet-Type, 18 |
|
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... |
OMIM:615888 |
Bleeding Disorder, Platelet-Type, 11 |
|
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... |
OMIM:614201 |
Bernard-Soulier Syndrome |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr... |
OMIM:231200 |
Glanzmann Thrombasthenia 1 |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... |
OMIM:273800 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... |
OMIM:314050 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Abnormal bleeding, Bruising susceptibilit... |
OMIM:155100 |
Glanzmann Thrombasthenia |
|
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... |
ORPHA:849 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet... |
ORPHA:231393 |
Factor V Deficiency |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... |
OMIM:227400 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia, Abnormal bleeding, Prolonged bleeding time |
OMIM:185050 |
Von Willebrand Disease, Type 3 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... |
OMIM:277480 |
Bleeding Disorder, Platelet-Type, 17 |
|
Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility... |
OMIM:187900 |
Prothrombin Deficiency, Congenital |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... |
OMIM:613679 |
Slc35A1-Cdg |
|
Abnormal bleeding, Giant platelets, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate... |
ORPHA:238459 |
Gray Platelet Syndrome |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal number of alpha granules, Impaire... |
OMIM:139090 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
Hemophilia B |
|
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... |
ORPHA:98879 |
Hermansky-Pudlak Syndrome 7 |
|
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... |
OMIM:614076 |
Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
Von Willebrand Disease, Type 1 |
|
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... |
OMIM:193400 |
Myh9-Related Disease |
|
Giant platelets, Bruising susceptibility, Prolonged bleeding time, Spontaneous, recurrent epistax... |
ORPHA:182050 |
Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
Thrombocytopenia 9 |
|
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:620478 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Epistaxis, Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Bruising sus... |
OMIM:601399 |
Blue Rubber Bleb Nevus |
|
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time |
ORPHA:1059 |
Heinz Body Anemias |
|
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia |
OMIM:140700 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Congenital Factor Ii Deficiency |
|
Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ... |
ORPHA:325 |
Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
Bleeding Disorder, Platelet-Type, 22 |
|
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... |
OMIM:618462 |
Platelet Signal Processing Defect |
|
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... |
OMIM:173590 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Essential Thrombocythemia |
|
Acute leukemia, Abnormal bleeding, Bruising susceptibility, Leukocytosis, Splenomegaly, Abnormal ... |
ORPHA:3318 |
Gray Platelet Syndrome |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... |
OMIM:187800 |
Bleeding Disorder, Platelet-Type, 15 |
|
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... |
OMIM:615193 |
Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,... |
OMIM:619271 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
Hermansky-Pudlak Syndrome 5 |
|
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Absent platelet de... |
OMIM:614074 |
Congenital Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... |
ORPHA:328 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Increased hematocrit, Cerebral hemorrhage, Leukocytosis, Splenomegal... |
OMIM:263300 |
Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Prolonged bleeding time, Pulmonic stenosis |
ORPHA:638 |
Aplasia Cutis Congenita |
|
Spinal dysraphism, Prolonged bleeding time |
ORPHA:1114 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Trimethylaminuria |
|
Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension |
OMIM:602079 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Ecchy... |
OMIM:614009 |
Congenital Factor Vii Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... |
ORPHA:327 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:153670 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal n... |
ORPHA:3226 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... |
OMIM:227600 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Neonatal cholestatic liver disease, Splenomegaly,... |
ORPHA:79301 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Internal hemorrhage, P... |
ORPHA:90308 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... |
OMIM:133100 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Congenital Fibrinogen Deficiency |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... |
ORPHA:335 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Bruising susceptibility, Acanthocytosis, Petechiae, Anemia of inadequate production, P... |
OMIM:300367 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... |
ORPHA:35909 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Splenomegaly, Eosinophilia, Hepatomegaly, Myeloproliferative disorder |
OMIM:607685 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Immune Thrombocytopenia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... |
ORPHA:3002 |
Hermansky-Pudlak Syndrome 1 |
|
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Cardiomyopathy, Ecchymosis, ... |
OMIM:203300 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Epistaxis, Abnormal bleeding, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepat... |
OMIM:612840 |
Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia... |
ORPHA:906 |
Portal Hypertension, Noncirrhotic, 2 |
|
Epistaxis, Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Petechiae, Sp... |
OMIM:619463 |
Fish-Eye Disease |
|
Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, Abnormal bleeding, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Sp... |
ORPHA:231401 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cardiomyopathy, Congestive heart failure, Splenomegaly, Anemia, Cirrhosis, Hepa... |
OMIM:613313 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Impaired platelet aggregation, Elliptocytosis, Macrocytic anemi... |
OMIM:300835 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Bruising susceptibility, Impaired platelet aggregation, Joint hem... |
OMIM:605735 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Cirrh... |
OMIM:602390 |
Dentinogenesis Imperfecta |
|
Bruising susceptibility, Prolonged bleeding time |
ORPHA:49042 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... |
ORPHA:444463 |
Acquired Purpura Fulminans |
|
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Thrombocytopenia, Intrac... |
ORPHA:49566 |
Hemophilia B |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... |
OMIM:306900 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Epistaxis, Abnormal bleeding, Prolonged prothrombin time |
OMIM:610842 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Petechiae, Anemia, Vasculitis in the skin, Hepatomegaly, Purpura |
OMIM:620296 |
Congenital Pulmonary Lymphangiectasia |
|
Congestive heart failure, Tricuspid regurgitation, Ascites, Splenomegaly, Pulmonary arterial hype... |
ORPHA:2414 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... |
ORPHA:64743 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... |
OMIM:608233 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... |
ORPHA:2585 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Leukopenia, Hemolytic anemia, Splenomegaly, Purpura, Prolonged bleed... |
ORPHA:809 |
Hermansky-Pudlak Syndrome 6 |
|
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... |
OMIM:614075 |
Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell ma... |
OMIM:263400 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Cardiac arrest, Splenomegaly |
ORPHA:77260 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... |
OMIM:615285 |
Acquired Von Willebrand Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... |
ORPHA:99147 |
Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Gingival bleeding, Epistaxis, Decreased proportion of CD8-positiv... |
OMIM:301000 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... |
OMIM:277450 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis |
OMIM:266140 |
Amyloidosis, Hereditary Systemic 2 |
|
Cholestasis, Hepatomegaly, Hypertension, Splenomegaly |
OMIM:105200 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis |
ORPHA:163596 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Internal hemorrhage, Lymphadenopathy, Thrombocytopenia, Anemia, Hypertension |
ORPHA:69077 |
Primary Myelofibrosis |
|
Abnormal bleeding, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hyperte... |
ORPHA:824 |
Sea-Blue Histiocytosis |
|
Abnormal bleeding, Sea-blue histiocytosis, Splenomegaly, Petechiae, Thrombocytopenia, Hepatomegal... |
ORPHA:158029 |
Osteogenesis Imperfecta, Type Xvi |
|
Bruising susceptibility, Prolonged bleeding time |
OMIM:616229 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system |
OMIM:271500 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Macs Syndrome |
|
Bruising susceptibility, Prolonged bleeding time, Umbilical hernia |
OMIM:613075 |
Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
Tempi Syndrome |
|
Increased hematocrit, Intracranial hemorrhage, Polycythemia |
ORPHA:284227 |
Immunodeficiency 42 |
|
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... |
OMIM:614470 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ducta... |
OMIM:613812 |
Typhoid |
|
Epistaxis, Gastrointestinal hemorrhage, Splenomegaly, Arrhythmia, Hepatomegaly, Cardiac arrest |
ORPHA:99745 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Vasculitis, Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Petechiae, Follic... |
OMIM:603909 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Neonatal Lupus Erythematosus |
|
Atrioventricular block, Dilated cardiomyopathy, Abnormal bleeding, Aplastic anemia, Pancytopenia,... |
ORPHA:398124 |
Gaucher Disease, Type I |
|
Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Mitral regurgitation, Splenomegaly... |
OMIM:230800 |
Autoimmune Lymphoproliferative Syndrome |
|
Vasculitis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic a... |
OMIM:601859 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... |
OMIM:616278 |
Polycythemia Vera |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Acute leukemia, Pulmonary embolism, Br... |
ORPHA:729 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Splenomegaly, Autoimmune hemolytic anemia, Congestive heart failure |
ORPHA:90037 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Splenomegaly, Reticulocyto... |
OMIM:185000 |
Relapsing Fever |
|
Epistaxis, Abnormal bleeding, Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, P... |
ORPHA:91547 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate... |
OMIM:616860 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Epistaxis, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundi... |
OMIM:211600 |
Cryoglobulinemic Vasculitis |
|
Vasculitis, Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Abnormality of the liver, P... |
ORPHA:91138 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Abnormal hemoglobin, S... |
ORPHA:848 |
Kaposiform Lymphangiomatosis |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Pancreatic cysts, Hepatosplenomegaly, Lymp... |
ORPHA:464329 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time |
ORPHA:1901 |
Fetal Cytomegalovirus Syndrome |
|
Hepatitis, Splenomegaly, Petechiae, Hepatomegaly, Anemia, Thrombocytopenia, Retinal hemorrhage, J... |
ORPHA:294 |
Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl... |
ORPHA:846 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonit... |
ORPHA:131 |
Hemochromatosis, Type 1 |
|
Cardiomyopathy, Congestive heart failure, Ascites, Splenomegaly, Telangiectasia, Cardiomegaly, Ar... |
OMIM:235200 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Splenomegaly, Petechiae, Lymphadenopathy, Neutropenia, Hepatomega... |
ORPHA:79477 |
Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... |
OMIM:254450 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Pancytopenia, Neutrophilia, Hepatomegaly, Tachycardia, Jaundice, Purpura, Diff... |
ORPHA:99827 |
Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time, Cardiomyopathy |
OMIM:616483 |
American Trypanosomiasis |
|
Cardiomyopathy, Congestive heart failure, Splenomegaly, Hepatomegaly, Arrhythmia, Lymphadenopathy... |
ORPHA:3386 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Petechiae, Neutropenia, Thrombocy... |
ORPHA:2330 |
Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... |
OMIM:617394 |
Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... |
OMIM:235700 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, ... |
ORPHA:90033 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Petechiae, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly |
OMIM:611490 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Abnormal bleeding, Transient ischemic attack, Cerebral ischemia, Sp... |
ORPHA:71493 |
Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Prolonged prothrombin ti... |
OMIM:618641 |
Gaucher Disease Type 1 |
|
Gingival bleeding, Splenic infarction, Cholelithiasis, Abnormal bleeding, Bruising susceptibility... |
ORPHA:77259 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Increased HbA2 hemoglo... |
ORPHA:231222 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... |
OMIM:602347 |
Inhalational Anthrax |
|
Hypotension, Internal hemorrhage |
ORPHA:247257 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Hellp Syndrome |
|
Hypotension, Microangiopathic hemolytic anemia, Decreased mean corpuscular hemoglobin concentrati... |
ORPHA:244242 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Waldenström Macroglobulinemia |
|
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Normocytic anemia, Leukemi... |
ORPHA:33226 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Pericarditis |
ORPHA:85414 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ... |
OMIM:615234 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Spherocytosis, Type 4 |
|
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Reti... |
OMIM:266200 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... |
OMIM:613673 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Spider hemangioma, Viral hepatitis, Ascites, Splenomegaly, Sclerosin... |
ORPHA:2137 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:182900 |
Noonan Syndrome 9 |
|
Prolonged prothrombin time, Pulmonic stenosis |
OMIM:616559 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:616649 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... |
OMIM:613470 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Pulmonary arterial hypertension, Right ventr... |
OMIM:616028 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh... |
ORPHA:99901 |
Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Abnormal bleeding, Reticulocytosis, Splenomegaly, Episodic hemol... |
OMIM:210250 |
Classical Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Umbilical hernia, Arterial rupture, Mitral regurgitation, Abnormal heart... |
ORPHA:287 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hemateme... |
OMIM:263200 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Prolonged prothrombin time |
OMIM:214950 |
Cog8-Cdg |
|
Prolonged prothrombin time, Spontaneous hematomas |
ORPHA:95428 |
Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Lymphopenia, Excessive bleeding after a venipuncture, Jaun... |
ORPHA:99826 |
Hemorrhagic Fever-Renal Syndrome |
|
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Leukocytosis, Petechiae,... |
ORPHA:340 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Prolonged prothrombin time, Anemia |
OMIM:267700 |
Yellow Fever |
|
Neutrophilia, Abnormal bleeding, Pancreatic hyperplasia, Shock, Reduced left ventricular ejection... |
ORPHA:99829 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret... |
OMIM:194380 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... |
OMIM:301078 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, P... |
OMIM:603553 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho... |
OMIM:208540 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... |
OMIM:602450 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... |
OMIM:620367 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Dilated cardiomyopathy, Portal hypertension, Prolonged prothrombin time, Congestive heart failure |
ORPHA:367 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
Cardiac-Urogenital Syndrome |
|
Tachycardia, Patent urachus, Prolonged bleeding time |
OMIM:618280 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Cardiomyopathy, Palpitations, Splenomegaly, Angina pectoris, Arrhythmia, Pancreatitis, Low-output... |
ORPHA:565612 |
Tafro Syndrome |
|
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopeni... |
ORPHA:457077 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hypertrophic cardiomyopathy, Ascites, Splenomegaly, Pancreatic islet... |
OMIM:276700 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro... |
OMIM:603554 |
Monosomy 13Q34 |
|
Prolonged prothrombin time, Hematochezia, Epistaxis, Pulmonic stenosis |
ORPHA:96168 |
Isolated Biliary Atresia |
|
Periportal fibrosis, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged neonatal jaundice,... |
ORPHA:30391 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Prolonged prothrombin time, Pulmonic stenosis |
OMIM:614300 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Sialuria |
|
Hepatosplenomegaly, Prolonged prothrombin time |
ORPHA:3166 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Prolonged prothrombin time, Extramedullary hematopoiesis |
ORPHA:79303 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Leukopenia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia |
OMIM:616271 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Biliary cirrhosis, Palmar telangiectasia, Cholestasis, Lymphopenia, ... |
OMIM:613471 |
Celiac Disease, Susceptibility To, 1 |
|
Prolonged prothrombin time, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis |
OMIM:212750 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Prolonged prothrombin time, Neonatal death |
OMIM:619055 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Prolonged prothrombin time |
OMIM:617049 |
Congenital Disorder Of Glycosylation, Type It |
|
Aborted sudden cardiac death, Dilated cardiomyopathy, Pulmonary arterial hypertension, Prolonged ... |
OMIM:614921 |
Liver Failure, Infantile, Transient |
|
Prolonged prothrombin time |
OMIM:613070 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Prolonged QT interval, Prolonged prothrombin time, Dilated cardiomyo... |
ORPHA:71212 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Prolonged prothrombin time, Cardiomyopathy |
ORPHA:88618 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukopenia, Leukocytosis, Prolonged prothrombin time, Thrombocytosis, Anemia |
ORPHA:20 |
Gaisböck Syndrome |
|
Increased red blood cell count, Increased hematocrit, Increased mean corpuscular hemoglobin conce... |
ORPHA:90041 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypertrophic cardiomyopathy, Prolonged prothrombin time |
OMIM:618329 |
Superficial Siderosis |
|
Subarachnoid hemorrhage, Persistent bleeding after trauma, Abnormal bleeding, Internal hemorrhage |
ORPHA:247245 |
Abetalipoproteinemia |
|
Abnormal bleeding, Acanthocytosis, Reticulocytosis, Prolonged prothrombin time, Anemia |
ORPHA:14 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Prolonged prothrombin time, Cardiomyopathy, Pericarditis |
OMIM:212065 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Polycythemia, Prolonged prothrombin time |
ORPHA:309854 |
Alg12-Cdg |
|
Prolonged prothrombin time, Thrombocytopenia, B lymphocytopenia |
ORPHA:79324 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Hepatosplenomegaly, Prolonged prothrombin time, A... |
ORPHA:247598 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Prolonged prothrombin time |
OMIM:311250 |
Acute Liver Failure |
|
Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Prol... |
ORPHA:90062 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Splenomegaly, Thrombocytopenia, Prolonged prothrombin time, Anemia, Bleeding w... |
OMIM:619525 |
Primary Sclerosing Cholangitis |
|
Spider hemangioma, Palmar telangiectasia, Congestive heart failure, Portal hypertension, Prolonge... |
ORPHA:171 |
Tuberous Sclerosis Complex |
|
Hepatic cysts, Pulmonary lymphangiomyomatosis, Hypertension, Internal hemorrhage |
ORPHA:805 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Corneal neovascularization, Prolonged prothrombin time |
ORPHA:404454 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Bruising susceptibility, Transient ischemic attack, Cystocele, Telangiectasia ... |
ORPHA:286 |
Thrombophilia, X-Linked, Due To Factor Ix Defect |
|
|
OMIM:300807 |