Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280794 |
Neutrophil Immunodeficiency Syndrome |
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Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Pseudo-Von Willebrand Disease |
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Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Specific Granule Deficiency 1 |
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Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Athrombia, Essential |
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Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
Immunodeficiency 86 |
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Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Granulomatous disease with defect in neutrophil chemotaxis |
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Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Von Willebrand Disease, X-Linked Form |
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Prolonged bleeding time |
OMIM:314560 |
Indolent Systemic Mastocytosis |
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Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology |
ORPHA:98848 |
Platelet Glycoprotein Iv Deficiency |
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Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Mastocytosis, Cutaneous |
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Cutaneous mastocytosis |
OMIM:154800 |
Tatsumi Factor Deficiency |
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Prolonged bleeding time |
OMIM:272650 |
Mast Cell Sarcoma |
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Mastocytosis, Splenomegaly |
ORPHA:66661 |
Glanzmann Thrombasthenia 2 |
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Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... |
OMIM:619267 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Aggressive Systemic Mastocytosis |
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Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
Bleeding Disorder, Platelet-Type, 18 |
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Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... |
OMIM:615888 |
Bleeding Disorder, Platelet-Type, 11 |
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Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,... |
OMIM:614201 |
Focal Facial Dermal Dysplasia Type Iv |
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Abnormal mast cell morphology |
ORPHA:398189 |
Platelet Responsiveness To Adrenaline, Depressed |
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Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
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Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
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 |
Bullous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280785 |
Thrombocythemia 1 |
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Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Immunodeficiency 81 |
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Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Platelet Disorder, Undefined |
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Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Glanzmann Thrombasthenia 1 |
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Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... |
OMIM:273800 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
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Cutaneous mastocytosis |
OMIM:248910 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Glanzmann Thrombasthenia |
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Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired ADP-induced pla... |
ORPHA:849 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Inc... |
OMIM:314050 |
Storage Pool Platelet Disease |
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Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... |
ORPHA:167 |
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 |
Bernard-Soulier Syndrome |
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Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Giant platelets, Macro... |
OMIM:231200 |
Immunodeficiency 32B |
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Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci... |
OMIM:226990 |
Slc35A1-Cdg |
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Prolonged bleeding time, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
Bleeding Disorder, Platelet-Type, 14 |
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Prolonged bleeding time |
OMIM:614158 |
Thrombocytopenia, Paris-Trousseau Type |
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Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Gray Platelet Syndrome |
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Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha... |
OMIM:139090 |
Congenital Disorder Of Glycosylation, Type Iic |
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Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Hennekam-Beemer Syndrome |
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Mastocytosis |
ORPHA:2135 |
Myh9-Related Disease |
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Prolonged bleeding time, Increased mean platelet volume, Giant platelets, Neutrophil inclusion bo... |
ORPHA:182050 |
Factor V Deficiency |
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Prolonged bleeding time, Prolonged prothrombin time |
OMIM:227400 |
Necrobiosis Lipoidica |
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Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Bleeding Disorder, Platelet-Type, 17 |
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Prolonged bleeding time, Increased RBC distribution width, Macrothrombocytopenia, Absence of alph... |
OMIM:187900 |
Deafness-Lymphedema-Leukemia Syndrome |
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Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, M... |
ORPHA:3226 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... |
OMIM:613470 |
Blue Rubber Bleb Nevus |
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Prolonged bleeding time, Microcytic anemia |
ORPHA:1059 |
Von Willebrand Disease, Type 3 |
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Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
Essential Thrombocythemia |
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Splenomegaly, Prolonged bleeding time, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... |
OMIM:618935 |
Chediak-Higashi Syndrome |
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Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... |
OMIM:214500 |
Hermansky-Pudlak Syndrome 5 |
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Prolonged bleeding time, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio... |
OMIM:614074 |
Hermansky-Pudlak Syndrome 7 |
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Prolonged bleeding time, Impaired platelet aggregation |
OMIM:614076 |
Prothrombin Deficiency, Congenital |
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Prolonged bleeding time, Prolonged prothrombin time |
OMIM:613679 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Prolonged bleeding time, Autoimmune h... |
OMIM:301000 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233690 |
Granulomatous Disease, Chronic, X-Linked |
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Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, Rectal abscess |
OMIM:306400 |
Leukocyte Adhesion Deficiency |
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Acute myeloid leukemia, Polycythemia, Perianal abscess, Leukocytosis, Bone marrow hypocellularity... |
ORPHA:2968 |