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 |
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 |
Immunodeficiency 81 |
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Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
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 |
Myeloma, Multiple |
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Amyloidosis, Paraproteinemia |
OMIM:254500 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280794 |
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 |
Congenital Disorder Of Glycosylation, Type Iic |
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Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Immunodeficiency 32B |
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Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci... |
OMIM:226990 |
Necrobiosis Lipoidica |
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Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Variant Abeta2M Amyloidosis |
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Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, Renal amyloidosis, ... |
ORPHA:314652 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... |
OMIM:613470 |
Mastocytosis, Cutaneous |
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Cutaneous mastocytosis |
OMIM:154800 |
Shwachman-Diamond Syndrome |
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Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Amyloidosis, Primary Localized Cutaneous, 2 |
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Cutaneous amyloidosis |
OMIM:613955 |
Indolent Systemic Mastocytosis |
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Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology |
ORPHA:98848 |
Amyloidosis, Cutaneous Bullous |
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Amyloidosis |
OMIM:204900 |
Mast Cell Sarcoma |
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Mastocytosis, Splenomegaly |
ORPHA:66661 |
Say-Barber-Miller Syndrome |
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Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell... |
ORPHA:3132 |
Bullous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280785 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... |
OMIM:618935 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
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Amyloidosis |
OMIM:204850 |
Amyloidosis, Finnish Type |
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Cardiac amyloidosis, Generalized amyloid deposition |
OMIM:105120 |
Chediak-Higashi Syndrome |
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Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... |
OMIM:214500 |
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 |
Aggressive Systemic Mastocytosis |
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Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
Amyloidosis, Primary Localized Cutaneous, 1 |
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Amyloidosis |
OMIM:105250 |
Leukocyte Adhesion Deficiency |
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Acute myeloid leukemia, Perianal abscess, Leukocytosis, Bone marrow hypocellularity, Abnormality ... |
ORPHA:2968 |
Cerebral Amyloid Angiopathy, Cst3-Related |
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Generalized amyloid deposition |
OMIM:105150 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... |
ORPHA:167 |
Amyloidosis, Familial Visceral |
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Splenomegaly, Generalized amyloid deposition |
OMIM:105200 |
Acys Amyloidosis |
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Amyloidosis, Cerebral amyloid angiopathy |
ORPHA:100008 |
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 |
Inherited Creutzfeldt-Jakob Disease |
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Amyloidosis of peripheral nerves |
ORPHA:282166 |
Idiopathic Trachyonychia |
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Amyloidosis, Autoimmune thrombocytopenia |
ORPHA:79153 |
Granulomatous Disease, Chronic, X-Linked |
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Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, Rectal abscess |
OMIM:306400 |
Aapoaiv Amyloidosis |
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Renal interstitial amyloid deposits, Paraproteinemia, Cutaneous amyloidosis, Renal amyloidosis, C... |
ORPHA:439232 |
Alzheimer Disease 4 |
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Neurofibrillary tangles, Cerebral amyloid angiopathy |
OMIM:606889 |
Palmoplantar Carcinoma, Multiple Self-Healing |
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Cutaneous macular amyloidosis, Amyloidosis |
OMIM:615225 |
Aa Amyloidosis |
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Amyloidosis, Renal amyloidosis |
ORPHA:85445 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
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Neurofibrillary tangles, Cerebral amyloid angiopathy |
OMIM:117300 |
Familial Mediterranean Fever |
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Neutrophilia, Splenomegaly, Leukocytosis, Amyloidosis, Renal amyloidosis |
OMIM:249100 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
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Cerebral amyloid angiopathy |
OMIM:176500 |
Abeta Amyloidosis, Dutch Type |
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Cerebral amyloid angiopathy |
ORPHA:100006 |
Periodic Fever, Familial, Autosomal Dominant |
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AA amyloidosis, Hepatic amyloidosis |
OMIM:142680 |
Q Fever |
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Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Amyloidosis, Granuloma, Increased circulating... |
ORPHA:781 |
Hennekam-Beemer Syndrome |
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Mastocytosis |
ORPHA:2135 |
Pmm2-Cdg |
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Impaired neutrophil chemotaxis |
ORPHA:79318 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Amyloidosis |
OMIM:105210 |
Cerebral Amyloid Angiopathy, App-Related |
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Cerebral amyloid angiopathy |
OMIM:605714 |
Primary Sclerosing Cholangitis |
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Abnormal eosinophil morphology, Splenomegaly, Polyclonal elevation of IgM, Hepatosplenomegaly, Am... |
ORPHA:171 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
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Cutaneous amyloidosis |
OMIM:301220 |