Specific Granule Deficiency 1 |
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Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Immunodeficiency 81 |
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Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Neutrophil Immunodeficiency Syndrome |
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Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Immunodeficiency 86 |
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Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst |
OMIM:619549 |
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 |
Immunodeficiency 108 With Autoinflammation |
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Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis |
OMIM:260570 |
Granulomatous disease with defect in neutrophil chemotaxis |
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Impaired neutrophil killing of staphylococci |
OMIM:233670 |
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 |
Immunodeficiency 32B |
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Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
Congenital Disorder Of Glycosylation, Type Iic |
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Neutrophilia, Short stature, Reduction of neutrophil motility |
OMIM:266265 |
Shwachman-Diamond Syndrome |
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Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Say-Barber-Miller Syndrome |
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Short stature, Cryptorchidism, Transient hypogammaglobulinemia of infancy, Abnormal T cell morpho... |
ORPHA:3132 |
Necrobiosis Lipoidica |
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Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Mast Cell Sarcoma |
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Mastocytosis, Splenomegaly, Weight loss |
ORPHA:66661 |
Leukocyte Adhesion Deficiency |
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Acute myeloid leukemia, Short stature, Thrombocytosis, Perianal abscess, Leukocytosis, Growth del... |
ORPHA:2968 |
Indolent Systemic Mastocytosis |
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Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology |
ORPHA:98848 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Hemolytic anemia, Short stature, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Imp... |
OMIM:618935 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... |
OMIM:613470 |
Aggressive Systemic Mastocytosis |
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Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Weight loss, Inc... |
ORPHA:98850 |
Chediak-Higashi Syndrome |
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Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... |
OMIM:214500 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Pancytopenia, Increased circulating ferritin concentration, Thromb... |
ORPHA:167 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
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Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Bone marrow hypoc... |
OMIM:615190 |
Focal Facial Dermal Dysplasia Type Iv |
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Abnormal mast cell morphology |
ORPHA:398189 |
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 |
Pmm2-Cdg |
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Hypogonadotropic hypogonadism, Reduced thyroxin-binding globulin, Hypoalbuminemia, Impaired neutr... |
ORPHA:79318 |
Granulomatous Disease, Chronic, X-Linked |
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Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, Rectal abscess |
OMIM:306400 |
Hennekam-Beemer Syndrome |
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Mastocytosis, Failure to thrive, Short stature |
ORPHA:2135 |
Pde4D Haploinsufficiency Syndrome |
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Postnatal growth retardation, Intrauterine growth retardation, Obesity, Cryptorchidism |
ORPHA:439822 |
Acrodysostosis |
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Hypogonadism, Cryptorchidism, Short stature, Irregular menstruation |
ORPHA:950 |
Acrodysostosis 2 With Or Without Hormone Resistance |
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Cryptorchidism, Mild short stature, Obesity, Intrauterine growth retardation |
OMIM:614613 |