Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased alpha-globulin, Increased circulating antibody level |
OMIM:235900 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Histiocytosis, Skin rash |
ORPHA:157997 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Immunodeficiency 50 |
|
Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia |
OMIM:300988 |
Immunodeficiency 53 |
|
Recurrent pneumonia, Recurrent otitis media, Skin rash, Impaired lymphocyte transformation with p... |
OMIM:617585 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... |
OMIM:300635 |
Histiocytosis, Progressive Mucinous |
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Mucinous histiocytosis |
OMIM:142630 |
Neutropenia, Chronic Familial |
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Periodontitis, Neutropenia, Increased circulating antibody level |
OMIM:162700 |
Immunodeficiency 69 |
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Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... |
OMIM:618963 |
Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
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Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia |
OMIM:608898 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis |
ORPHA:158025 |
Agammaglobulinemia 7, Autosomal Recessive |
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Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... |
OMIM:615214 |
Macrophage Activation Syndrome |
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Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki... |
ORPHA:158061 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
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Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ... |
OMIM:618944 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
Immunodeficiency 27A |
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Hypoalbuminemia, Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammator... |
OMIM:209950 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
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Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... |
OMIM:620430 |
Agammaglobulinemia 4, Autosomal Recessive |
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Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:613502 |
Ataxia-Pancytopenia Syndrome |
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Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... |
ORPHA:2585 |
Immunodeficiency 97 With Autoinflammation |
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Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... |
OMIM:619802 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne... |
OMIM:619281 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemopha... |
OMIM:308240 |
Specific Granule Deficiency 1 |
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Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... |
OMIM:245480 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... |
OMIM:607616 |
Agammaglobulinemia 3, Autosomal Recessive |
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Recurrent otitis media, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T c... |
OMIM:613501 |
Immunodeficiency 32B |
|
Hypoalbuminemia, Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegal... |
OMIM:226990 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
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Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Neutrophilia, Hereditary |
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Splenomegaly, Neutrophilia |
OMIM:162830 |
Generalized Eruptive Histiocytosis |
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Leukemia, Hypereosinophilia, Histiocytosis, Maculopapular exanthema |
ORPHA:157991 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... |
OMIM:618398 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... |
OMIM:613011 |
Familial Hemophagocytic Lymphohistiocytosis |
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Hypoalbuminemia, Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased c... |
ORPHA:540 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... |
OMIM:619707 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos... |
ORPHA:158057 |
Leishmaniasis |
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Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increase... |
ORPHA:507 |
Multicentric Reticulohistiocytosis |
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Histiocytosis, Arthritis |
ORPHA:139436 |
Immunodeficiency 46 |
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Conjunctivitis, Neutropenia, Anemia, Intermittent thrombocytopenia, Decreased circulating antibod... |
OMIM:616740 |
Infection-Related Hemolytic Uremic Syndrome |
|
Abnormal circulating chemokine concentration, Pneumonia, Septic arthritis, Brain abscess, Leukocy... |
ORPHA:544482 |
Transcobalamin Deficiency |
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Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... |
ORPHA:859 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, Recurrent otitis media, Recur... |
OMIM:301078 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... |
OMIM:615285 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
Whim Syndrome 1 |
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Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis, Neutropenia |
OMIM:193670 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Decreased circulating IgG level, Decreased circulating IgA level, Neutropenia, Increased circulat... |
OMIM:606843 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon... |
OMIM:614470 |
Lymphoproliferative Syndrome 2 |
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Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenom... |
OMIM:615122 |
Hemochromatosis, Type 3 |
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Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... |
OMIM:604250 |
Griscelli Syndrome, Type 2 |
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Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
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Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... |
OMIM:620481 |
Congenital Enterovirus Infection |
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Hypoalbuminemia, Hepatitis, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Hyperammone... |
ORPHA:292 |
Sweet Syndrome |
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Abnormal circulating interleukin concentration, Inflammation of the large intestine, Increased ci... |
ORPHA:3243 |
Adult Idiopathic Neutropenia |
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Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci... |
ORPHA:2688 |
Immunodeficiency 91 And Hyperinflammation |
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Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocy... |
OMIM:619644 |
Hemophagocytic Syndrome Associated With An Infection |
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Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... |
ORPHA:158048 |
Sea-Blue Histiocyte Disease |
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Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com... |
OMIM:301081 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Neutrophilia, Elevated circulatin... |
OMIM:614204 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... |
OMIM:618986 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia |
OMIM:300299 |
Autoinflammatory-Pancytopenia Syndrome |
|
Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Chilblains, Intestinal inflammatio... |
OMIM:619858 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... |
OMIM:619705 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:267700 |
Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia |
ORPHA:79477 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Abnormal macrophage morphology, Elevated circulating creatine kinase concentration |
ORPHA:353 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d... |
OMIM:619752 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Panniculitis, Skin rash, Increased proportion of CD4-positive T cells, Increased ci... |
OMIM:617099 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617243 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Pancytopenia... |
ORPHA:572 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Increased circulat... |
ORPHA:169154 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:603553 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Neutrophilia |
OMIM:266265 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Abnormal immunoglobulin level, Neutropenia |
OMIM:618752 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... |
OMIM:614172 |
Acute Lung Injury |
|
Pneumonia, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis facto... |
ORPHA:178320 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c... |
OMIM:304790 |
Disabling Pansclerotic Morphea Of Childhood |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia |
OMIM:620443 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczemat... |
OMIM:620565 |
Graft Versus Host Disease |
|
Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He... |
ORPHA:39812 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent sinusitis, Agamm... |
OMIM:601495 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Elevated circulating C-reactive protein concentration, Neutrophilia, Anemia, Liver... |
ORPHA:54251 |
Adult-Onset Still Disease |
|
Hepatitis, Abnormal circulating lipid concentration, Increased circulating ferritin concentration... |
ORPHA:829 |
Pneumocystosis |
|
Interstitial pneumonitis, Increased circulating antibody level, Acute infectious pneumonia, Abnor... |
ORPHA:723 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Neutrophilia, Elevated circulating C-re... |
OMIM:612852 |
Sea-Blue Histiocytosis |
|
Blepharitis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... |
ORPHA:91547 |
Aregenerative Anemia |
|
Abnormal circulating interleukin concentration, Pancytopenia, Decreased proportion of CD4-positiv... |
ORPHA:101096 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... |
ORPHA:70578 |
Bacterial Toxic-Shock Syndrome |
|
Abscess, Glomerulonephritis, Recurrent skin infections, Elevated circulating creatinine concentra... |
ORPHA:36234 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... |
ORPHA:85410 |
Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia |
ORPHA:1302 |
Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia |
ORPHA:1930 |
Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Leukopenia, Leukocytosis, Acute infectious pneumonia, Neutrophilia, Elevated circulati... |
ORPHA:36238 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233710 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
Agammaglobulinemia, X-Linked |
|
Recurrent otitis media, Prostatitis, Neutropenia, Epididymitis, Pyoderma, Recurrent sinusitis, De... |
OMIM:300755 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227990 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro... |
ORPHA:3226 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233690 |
Familial Mediterranean Fever |
|
Erysipelas, Leukocytosis, Splenomegaly, Crohn's disease, Orchitis, Peritonitis, Elevated circulat... |
OMIM:249100 |
Chédiak-Higashi Syndrome |
|
Abnormality of neutrophil physiology, Periodontitis, Hemophagocytosis, Abnormal natural killer ce... |
ORPHA:167 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Panniculitis, Hemophagocytosis |
ORPHA:86884 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Increased circulating I... |
OMIM:260920 |
Chediak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal de... |
OMIM:214500 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227982 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder, Hemophagocytosis, Extramedullary hematopoiesis |
OMIM:254450 |
Niemann-Pick Disease, Type A |
|
Microcytic anemia, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis |
OMIM:257200 |
Lysinuric Protein Intolerance |
|
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, I... |
ORPHA:470 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic dermal infiltra... |
ORPHA:293173 |
Lysinuric Protein Intolerance |
|
Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent... |
OMIM:222700 |
Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Osteomy... |
OMIM:306400 |
Listeriosis |
|
Pneumonia, Arteritis, Brain abscess, Septic arthritis, Osteomyelitis, Pyelonephritis, Abscess, Ch... |
ORPHA:533 |
Acrokeratoelastoidosis Of Costa |
|
Granulomatosis |
ORPHA:38 |
H Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Chronic rhinitis, Hypertriglyceri... |
ORPHA:168569 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
Granulomatosis With Polyangiitis |
|
Otitis media, Skin rash, Increased inflammatory response, Inflammatory abnormality of the eye, Pr... |
ORPHA:900 |
Granulomatosis With Polyangiitis |
|
Keratitis, Episcleritis, Granulomatosis, Sinusitis, Conjunctivitis, Chronic otitis media, Uveitis |
OMIM:608710 |
Niemann-Pick Disease, Type C1 |
|
Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis |
OMIM:257220 |
Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent pneumonia, Keratitis, Microcytic anemia, Recurrent otitis media, Leukocytosis, Abnormal... |
ORPHA:99843 |
Gm1-Gangliosidosis, Type Ii |
|
Splenomegaly, Sea-blue histiocytosis |
OMIM:230600 |
Yellow Fever |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Skin rash, Eleva... |
ORPHA:99829 |
Niemann-Pick Disease, Type C2 |
|
Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis |
OMIM:607625 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatosplenomegaly, Thrombocytosis, ... |
ORPHA:3260 |
Crimean-Congo Hemorrhagic Fever |
|
Conjunctivitis, Parotitis, Morbilliform rash, Pancytopenia, Leukopenia, Leukocytosis, Splenomegal... |
ORPHA:99827 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Episcleritis, Histiocytosis, Splenomegaly |
OMIM:602782 |