Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
Von Willebrand Disease, X-Linked Form |
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Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Athrombia, Essential |
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Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... |
OMIM:209050 |
Pseudo-Von Willebrand Disease |
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Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Bleeding Disorder, Platelet-Type, 18 |
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Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:615888 |
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, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... |
OMIM:614201 |
Platelet Glycoprotein Iv Deficiency |
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Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Tatsumi Factor Deficiency |
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Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Bernard-Soulier Syndrome |
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Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
Glanzmann Thrombasthenia |
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Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... |
ORPHA:849 |
Immunodeficiency 18 |
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Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Immunodeficiency 24 |
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Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
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Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Impaired ADP-i... |
OMIM:155100 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
Platelet Disorder, Undefined |
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Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Von Willebrand Disease, Type 3 |
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Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Gray Platelet Syndrome |
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Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... |
OMIM:139090 |
Bleeding Disorder, Platelet-Type, 14 |
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Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
Reticular Dysgenesis |
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Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Factor V Deficiency |
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Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
Bleeding Disorder, Platelet-Type, 17 |
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Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... |
OMIM:187900 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... |
ORPHA:231393 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
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Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... |
OMIM:601399 |
Slc35A1-Cdg |
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Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia... |
ORPHA:238459 |
Storage Pool Platelet Disease |
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Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Prothrombin Deficiency, Congenital |
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Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Thrombocytopenia, Paris-Trousseau Type |
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Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Deafness-Lymphedema-Leukemia Syndrome |
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Prolonged bleeding time, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acu... |
ORPHA:3226 |
Hermansky-Pudlak Syndrome 7 |
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Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... |
OMIM:614076 |
Immunodeficiency 81 |
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Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... |
OMIM:619374 |
Von Willebrand Disease, Type 1 |
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Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... |
OMIM:618987 |
Immunodeficiency 11A |
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Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Myh9-Related Disease |
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Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ... |
ORPHA:182050 |
Hemophilia B |
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Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Caspase 8 Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... |
OMIM:619846 |
Congenital Factor Ii Deficiency |
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Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Thrombocythemia 1 |
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Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Hermansky-Pudlak Syndrome 5 |
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Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
Neurofibromatosis-Noonan Syndrome |
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Prolonged bleeding time, Abnormality of the lymphatic system |
ORPHA:638 |
Blue Rubber Bleb Nevus |
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Prolonged bleeding time, Intestinal bleeding, Microcytic anemia |
ORPHA:1059 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Wiskott-Aldrich Syndrome 2 |
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Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Hermansky-Pudlak Syndrome 6 |
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Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... |
OMIM:614075 |
Aplasia Cutis Congenita |
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Prolonged bleeding time |
ORPHA:1114 |
Essential Thrombocythemia |
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Splenomegaly, Prolonged bleeding time, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Wiskott-Aldrich Syndrome |
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Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Prolonged bleeding time, Abs... |
OMIM:301000 |
Autoimmune Lymphoproliferative Syndrome |
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Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
Hermansky-Pudlak Syndrome 2 |
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Hepatomegaly, Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cel... |
OMIM:608233 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... |
OMIM:308240 |
Immunodeficiency, Common Variable, 1 |
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Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... |
OMIM:607594 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho... |
OMIM:603909 |
Congenital Factor X Deficiency |
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Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Klippel-Trénaunay Syndrome |
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Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Microcytic anemia, Internal h... |
ORPHA:90308 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... |
ORPHA:331206 |
Congenital Factor Vii Deficiency |
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Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
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Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... |
ORPHA:98813 |
Wiskott-Aldrich Syndrome |
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Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
Mixed Connective Tissue Disease |
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Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Hepatomegaly, Mediastinal... |
ORPHA:809 |
Immunodeficiency 92 |
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Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Factor X Deficiency |
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Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Hepatoportal Sclerosis |
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Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperpl... |
ORPHA:64743 |
Combined Deficiency Of Factor V And Factor Viii |
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Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Dentinogenesis Imperfecta |
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Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
Hermansky-Pudlak Syndrome 1 |
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Prolonged bleeding time, Epistaxis, Hematochezia, Gingival bleeding, Ecchymosis, Bruising suscept... |
OMIM:203300 |
Congenital Fibrinogen Deficiency |
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Abnormal bleeding, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time, Gingival ble... |
ORPHA:335 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Hematochezia, Prolonge... |
OMIM:613812 |
Autoimmune Lymphoproliferative Syndrome |
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Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
Osteogenesis Imperfecta, Type Xvi |
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Prolonged bleeding time, Bruising susceptibility |
OMIM:616229 |
Relapsing Fever |
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Abnormal bleeding, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Jaundice, Leukopenia,... |
ORPHA:91547 |
Macs Syndrome |
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Prolonged bleeding time, Bruising susceptibility |
OMIM:613075 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Acute Panmyelosis With Myelofibrosis |
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Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
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Abnormal bleeding, Prolonged prothrombin time, Epistaxis |
OMIM:610842 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly,... |
OMIM:603553 |
Acquired Von Willebrand Syndrome |
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Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxis, Intracranial hemorr... |
ORPHA:99147 |
Infantile Liver Failure Syndrome 3 |
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Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Prolonged prothrombin time, Hepatic bridging f... |
OMIM:618641 |
Acquired Purpura Fulminans |
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Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb... |
ORPHA:49566 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Prolonged bleeding time |
ORPHA:1901 |
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 |
Kasabach-Merritt Syndrome |
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Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Anemia, Leukopenia, Prol... |
ORPHA:2330 |
Liver Failure, Infantile, Transient |
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Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Prolonged prothrombin time, Macrovesicu... |
OMIM:613070 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Leukopenia, Prolonged pr... |
OMIM:267700 |
Bile Acid Synthesis Defect, Congenital, 4 |
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Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged prothrombin... |
OMIM:214950 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestasis, Abnormal... |
ORPHA:79303 |
Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time, Jaundice |
OMIM:616483 |
Sialuria |
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Hepatomegaly, Prolonged prothrombin time, Cholelithiasis, Hepatosplenomegaly |
ORPHA:3166 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Prolonged prothrombin time, Cirrhosis |
ORPHA:367 |
Isolated Biliary Atresia |
|
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Prolonged prothrombin tim... |
ORPHA:30391 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Prolonged prothrombin time, Portal fibrosis, Hepatic steatosis, Cholestasis |
OMIM:614300 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Leukopenia, Prolonged prothrombin time, Neutropenia, Hepatic steatosis, Thromb... |
OMIM:616271 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell... |
ORPHA:171 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Prolonged prothrombin time, Neutropenia, Hyperechogenic pancreas... |
OMIM:617941 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Prolonged prothrombin time, Cirrhosis, Jaundice |
OMIM:617049 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Prolonged bleeding time, Hepatopulmonary fusion |
OMIM:618280 |
Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time |
ORPHA:95428 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Iron deficiency anemia, Prolonged prothrombin time, Thrombocytosis, Decreased ... |
OMIM:212750 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumulation in hepatocytes, Leuk... |
ORPHA:20 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Thrombocytopenia, Cerebellar hemorrhage, Hepatic steatosis, Prolonged prothrombin time |
ORPHA:99901 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul... |
ORPHA:309854 |
Noonan Syndrome 9 |
|
Prolonged prothrombin time |
OMIM:616559 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Prolonged prothrombin time, Hepatic fibrosis, Thrombocytosis, Decreased circulating... |
OMIM:212065 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo... |
ORPHA:244242 |
Marburg Hemorrhagic Fever |
|
Abnormal bleeding, Reticulocytosis, Lymphopenia, Excessive bleeding after a venipuncture, Thrombo... |
ORPHA:99826 |
Classical Ehlers-Danlos Syndrome |
|
Ecchymosis, Prolonged bleeding time, Bruising susceptibility |
ORPHA:287 |
Nk-Cell Enteropathy |
|
Hematochezia, Increased T cell count |
ORPHA:263665 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hepatomegaly, Jaundice, Cholestasis, Hepatospleno... |
ORPHA:247598 |
Yellow Fever |
|
Abnormal bleeding, Acute pancreatitis, Neutrophilia, Excessive bleeding after a venipuncture, Hem... |
ORPHA:99829 |
Monosomy 13Q34 |
|
Hematochezia, Prolonged prothrombin time, Hepatic steatosis, Epistaxis |
ORPHA:96168 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Prolonged prothrombin time, Abnormality of the liver, Hepatocellular carcinoma |
ORPHA:88618 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Melena, Prolonged prothrombin time, Panc... |
OMIM:276700 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Intrahepatic cholestasis, Hepatitis, Chronic hepatitis, Prolonged prothrombin time,... |
OMIM:614921 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Prolonged prothrombin time, Bile duct proliferation, Macrovesicular hepatic steatosis |
OMIM:618329 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged prothrombin time, Hepatic steatosis, Hepatic necrosis |
ORPHA:71212 |
Abetalipoproteinemia |
|
Abnormal bleeding, Reticulocytosis, Hepatomegaly, Acanthocytosis, Prolonged prothrombin time, Hep... |
ORPHA:14 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Microcytic anemia, Thrombocytopenia, Splenomegaly, Prolonged prothrombin time, Incr... |
OMIM:619525 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Prolonged prothrombin time |
OMIM:619055 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Hepatomegaly, Nodular regenerative hyperplasia of liver, Splenomegaly, Micronodular cirrhosis, Mi... |
ORPHA:404454 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Jaundice, Hepatitis, Hepatic necrosis, Hepatocell... |
ORPHA:90062 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Prolonged prothrombin time |
OMIM:311250 |
Sarcoidosis |
|
Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Thrombocytopenia, Increased T ... |
ORPHA:797 |