Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280794 |
Specific Granule Deficiency 1 |
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Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... |
OMIM:245480 |
Indolent Systemic Mastocytosis |
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Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapular exanthema, Increased propor... |
ORPHA:98848 |
Neutrophil Immunodeficiency Syndrome |
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Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Immunodeficiency 86 |
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Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Granulomatous disease with defect in neutrophil chemotaxis |
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Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Mast Cell Sarcoma |
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Mastocytosis, Splenomegaly |
ORPHA:66661 |
Mastocytosis, Cutaneous |
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Cutaneous mastocytosis |
OMIM:154800 |
Aggressive Systemic Mastocytosis |
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Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... |
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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Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
X-Linked Lymphoproliferative Disease |
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Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... |
ORPHA:2442 |
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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Macrocytic anemia, Leukocytosis, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Immunodeficiency 81 |
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Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... |
OMIM:619374 |
Congenital Disorder Of Glycosylation, Type Iic |
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Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Chédiak-Higashi Syndrome |
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Abnormal natural killer cell morphology, Neutropenia, Abnormal platelet function, Thrombocytopeni... |
ORPHA:167 |
Mastocytosis |
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Mastocytosis, Chronic leukemia, Acute leukemia, Splenomegaly |
ORPHA:98292 |
Necrobiosis Lipoidica |
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Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Hennekam-Beemer Syndrome |
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Mastocytosis, Pneumonia |
ORPHA:2135 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Eczema, Lymphadenitis, Abscess, Splenomegaly, Crohn's disease, Perianal abscess, Impaired oxidati... |
OMIM:618935 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Splenomegaly, Impaired neutrophil bactericidal activity, Nonspherocytic hemolytic anemia, Cholecy... |
OMIM:613470 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Osteomyelitis, Splenomegaly, Recurrent ... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Osteomyelitis, Splenomegaly, Recurrent ... |
OMIM:233710 |
Granulomatous Disease, Chronic, X-Linked |
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Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Osteomyelitis, Splenomegaly, Recurrent ... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Osteomyelitis, Splenomegaly, Recurrent ... |
OMIM:233690 |
Chediak-Higashi Syndrome |
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Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... |
OMIM:214500 |
Leukocyte Adhesion Deficiency |
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Sinusitis, Recurrent aphthous stomatitis, Impaired platelet aggregation, Conjunctivitis, Leukocyt... |
ORPHA:2968 |