Neutrophil Immunodeficiency Syndrome |
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Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Specific Granule Deficiency 1 |
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Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Carbimazole Sensitivity |
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Drug-induced agranulocytosis |
OMIM:212060 |
Granulomatous disease with defect in neutrophil chemotaxis |
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Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Immunodeficiency 86 |
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Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Undritz Anomaly |
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Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Diamond-Blackfan Anemia 18 |
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Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280794 |
Neutrophilia, Hereditary |
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Splenomegaly, Neutrophilia |
OMIM:162830 |
Neutropenia-Monocytopenia-Deafness Syndrome |
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Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
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Neutropenia |
OMIM:617014 |
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 |
Neutropenia, Lethal Congenital, With Eosinophilia |
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Eosinophilia, Neutropenia |
OMIM:257100 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
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Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Cyclic Neutropenia |
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Cyclic neutropenia |
OMIM:162800 |
Immunodeficiency 50 |
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Lymphopenia, Neutropenia, Decreased circulating antibody level |
OMIM:300988 |
Immunodeficiency 53 |
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Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Immunodeficiency 32B |
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Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci... |
OMIM:226990 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Congenital Disorder Of Glycosylation, Type Iic |
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Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Immunodeficiency 81 |
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Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
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Neutropenia |
ORPHA:70592 |
X-Linked Severe Congenital Neutropenia |
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Monocytopenia, Neutropenia |
ORPHA:86788 |
Agammaglobulinemia 7, Autosomal Recessive |
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Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
Anemia, Sideroblastic, 5 |
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Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
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Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... |
OMIM:619281 |
Necrobiosis Lipoidica |
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Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Transcobalamin Deficiency |
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Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Agammaglobulinemia 10, Autosomal Dominant |
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Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Immunodeficiency 108 With Autoinflammation |
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Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis |
OMIM:260570 |
Neutropenia, Severe Congenital, X-Linked |
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Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Agammaglobulinemia 4, Autosomal Recessive |
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Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... |
OMIM:613470 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
Agammaglobulinemia 3, Autosomal Recessive |
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Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
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Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Indolent Systemic Mastocytosis |
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Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology |
ORPHA:98848 |
Felty Syndrome |
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Splenomegaly, Neutropenia |
OMIM:134750 |
Mastocytosis, Cutaneous |
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Cutaneous mastocytosis |
OMIM:154800 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
Refractory Anemia |
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Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Adult Idiopathic Neutropenia |
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Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... |
ORPHA:2688 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Acquired Idiopathic Sideroblastic Anemia |
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Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Mast Cell Sarcoma |
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Mastocytosis, Splenomegaly |
ORPHA:66661 |
Thrombocytopenia 5 |
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B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ... |
OMIM:618986 |
Chediak-Higashi Syndrome |
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Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... |
OMIM:214500 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... |
OMIM:618935 |
Immunodeficiency 21 |
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Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Aggressive Systemic Mastocytosis |
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Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
Diamond-Blackfan Anemia 4 |
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Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Immunodeficiency 67 |
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Liver abscess, Transient neutropenia, Increased circulating IgE level |
OMIM:607676 |
Fanconi Anemia, Complementation Group V |
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Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Bullous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280785 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... |
ORPHA:167 |
Focal Facial Dermal Dysplasia Type Iv |
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Abnormal mast cell morphology |
ORPHA:398189 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Bone Marrow Failure Syndrome 6 |
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Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Deafness-Lymphedema-Leukemia Syndrome |
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Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... |
ORPHA:3226 |
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 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Brain abscess, Neutrophilia, Liver abscess, Anemia |
ORPHA:54251 |
Relapsing Fever |
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Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
Shwachman-Diamond Syndrome |
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Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Psoriasis 14, Pustular |
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Leukocytosis, Neutrophilia |
OMIM:614204 |
Leukocyte Adhesion Deficiency |
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Acute myeloid leukemia, Perianal abscess, Leukocytosis, Bone marrow hypocellularity, Abnormality ... |
ORPHA:2968 |
Cryptogenic Organizing Pneumonia |
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Leukocytosis, Neutrophilia |
ORPHA:1302 |
Acute Generalized Exanthematous Pustulosis |
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Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Adult-Onset Still Disease |
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Splenomegaly, Leukocytosis, Neutrophilia, Bone marrow hypocellularity |
ORPHA:829 |
Pneumocystosis |
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Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
Hennekam-Beemer Syndrome |
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Mastocytosis |
ORPHA:2135 |
Sweet Syndrome |
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Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... |
ORPHA:3243 |
Hyper-Igd Syndrome |
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Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In... |
OMIM:260920 |
Say-Barber-Miller Syndrome |
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Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell... |
ORPHA:3132 |
Pmm2-Cdg |
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Impaired neutrophil chemotaxis |
ORPHA:79318 |
Granulomatosis With Polyangiitis |
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Granulomatosis |
ORPHA:900 |