Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Pseudo-Von Willebrand Disease |
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Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Von Willebrand Disease, X-Linked Form |
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Prolonged bleeding time |
OMIM:314560 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... |
OMIM:619281 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
Immunodeficiency 15B |
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Agammaglobulinemia, Monocytosis, Reduced natural killer cell count, Decreased circulating antibod... |
OMIM:615592 |
Tatsumi Factor Deficiency |
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Prolonged bleeding time |
OMIM:272650 |
Athrombia, Essential |
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Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
Platelet Glycoprotein Iv Deficiency |
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Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Adult Idiopathic Neutropenia |
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Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... |
ORPHA:2688 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia |
OMIM:616871 |
Glanzmann Thrombasthenia 2 |
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Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... |
OMIM:619267 |
Immunodeficiency 11A |
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Monocytopenia, Agammaglobulinemia, Decreased proportion of CD4+CD25+ regulatory T cells, Decrease... |
OMIM:615206 |
Bleeding Disorder, Platelet-Type, 11 |
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Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,... |
OMIM:614201 |
Bleeding Disorder, Platelet-Type, 14 |
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Prolonged bleeding time, Decreased serum thromboxane B2 |
OMIM:614158 |
Bleeding Disorder, Platelet-Type, 18 |
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Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... |
OMIM:615888 |
Immunodeficiency 91 And Hyperinflammation |
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Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
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Prolonged bleeding time, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, G... |
OMIM:155100 |
Autosomal Dominant Severe Congenital Neutropenia |
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Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Platelet Disorder, Undefined |
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Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
X-Linked Severe Congenital Neutropenia |
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Monocytopenia, Neutropenia |
ORPHA:86788 |
Neutropenia, Severe Congenital, X-Linked |
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Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Immunodeficiency 97 With Autoinflammation |
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Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
Glanzmann Thrombasthenia 1 |
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Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... |
OMIM:273800 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Inc... |
OMIM:314050 |
Immunodeficiency 21 |
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Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Immunodeficiency 32B |
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Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Abno... |
OMIM:226990 |
Storage Pool Platelet Disease |
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Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Glanzmann Thrombasthenia |
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Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired ADP-induced pla... |
ORPHA:849 |
Thrombocytopenia, Paris-Trousseau Type |
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Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Factor V Deficiency |
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Prolonged bleeding time, Prolonged prothrombin time |
OMIM:227400 |
Bernard-Soulier Syndrome |
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Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Giant platelets, Macro... |
OMIM:231200 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
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Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Impaired platelet aggr... |
OMIM:601399 |
Slc35A1-Cdg |
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Prolonged bleeding time, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Decreased circulating IgG level, Pancytopenia, Impaired neutrophil chemotaxis, Partial absence of... |
OMIM:618986 |
Gray Platelet Syndrome |
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Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha... |
OMIM:139090 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Relapsing Fever |
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Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
Bleeding Disorder, Platelet-Type, 17 |
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Prolonged bleeding time, Increased RBC distribution width, Macrothrombocytopenia, Absence of alph... |
OMIM:187900 |
Infantile Liver Failure Syndrome 2 |
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Prolonged prothrombin time, Hyperammonemia |
OMIM:616483 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hyponatremia, Pancytopenia, Hypertriglyceridemia, Reduced natural killer cell activity, Splenomeg... |
OMIM:603553 |
Prothrombin Deficiency, Congenital |
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Prolonged bleeding time, Prolonged prothrombin time |
OMIM:613679 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Conjugated hyperbilirubinemia, Hyperammonemia, Prolonged prothrombin time, Elevated circulating a... |
OMIM:617049 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Kasabach-Merritt Syndrome |
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Reticulocytosis, Thrombocytopenia, Leukopenia, Prolonged prothrombin time, Microangiopathic hemol... |
ORPHA:2330 |
Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency |
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OMIM:613116 |