Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280794 |
Indolent Systemic Mastocytosis |
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Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Maculopapular ex... |
ORPHA:98848 |
Neutrophil Immunodeficiency Syndrome |
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Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Immunodeficiency 86 |
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Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Specific Granule Deficiency 1 |
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Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... |
OMIM:245480 |
Granulomatous disease with defect in neutrophil chemotaxis |
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Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Mastocytosis, Cutaneous |
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Cutaneous mastocytosis |
OMIM:154800 |
Mast Cell Sarcoma |
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Mastocytosis, Splenomegaly |
ORPHA:66661 |
Aggressive Systemic Mastocytosis |
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Hepatosplenomegaly, Increased proportion of CD25+ mast cells, Pancytopenia, Hypersplenism, Leukoc... |
ORPHA:98850 |
Bullous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
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, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
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Cutaneous mastocytosis |
OMIM:248910 |
Immunodeficiency 32B |
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Pneumonia, Neutrophilia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, ... |
OMIM:226990 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Congenital Disorder Of Glycosylation, Type Iic |
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Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Neutrophilia |
OMIM:266265 |
Immunodeficiency 81 |
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Abnormally low T cell receptor excision circle level, Skin rash, Autoimmune hemolytic anemia, Abs... |
OMIM:619374 |
Chédiak-Higashi Syndrome |
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Abnormality of neutrophil physiology, Periodontitis, Hemophagocytosis, Abnormal natural killer ce... |
ORPHA:167 |
Hennekam-Beemer Syndrome |
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Pneumonia, Mastocytosis |
ORPHA:2135 |
Necrobiosis Lipoidica |
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Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma |
ORPHA:542592 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymphopenia, Hepatosplenome... |
OMIM:618935 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Spontaneous hemolytic crises, Cholecystitis, Splenomegaly, Nonspherocytic hemolytic anemia, Impai... |
OMIM:613470 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233690 |
Chediak-Higashi Syndrome |
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Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal de... |
OMIM:214500 |
Granulomatous Disease, Chronic, X-Linked |
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Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Osteomy... |
OMIM:306400 |
Leukocyte Adhesion Deficiency |
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Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... |
ORPHA:2968 |