Histiocytosis, Familial Lipochrome |
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Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Benign Cephalic Histiocytosis |
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Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemia, Erythema no... |
OMIM:300635 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
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Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,... |
OMIM:608898 |
Papular Xanthoma |
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Hyperlipidemia, Histiocytosis |
ORPHA:158008 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Neutropenia-Monocytopenia-Deafness Syndrome |
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Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Histiocytosis, Progressive Mucinous |
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Mucinous histiocytosis |
OMIM:142630 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Anem... |
OMIM:603552 |
Immunodeficiency 97 With Autoinflammation |
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Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Ataxia-Pancytopenia Syndrome |
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Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc... |
OMIM:308240 |
Macrophage Activation Syndrome |
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Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... |
ORPHA:158061 |
Immunodeficiency 27A |
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Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Incre... |
OMIM:209950 |
Hereditary Progressive Mucinous Histiocytosis |
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Mucinous histiocytosis |
ORPHA:158025 |
Niemann-Pick Disease, Type B |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... |
OMIM:607616 |
Transcobalamin Deficiency |
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Lymphopenia, Pancytopenia, Abnormality of chromosome stability, Decreased circulating antibody le... |
ORPHA:859 |
Familial Hemophagocytic Lymphohistiocytosis |
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Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Skin rash, Maculopapular... |
ORPHA:540 |
Griscelli Syndrome, Type 2 |
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Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Leishmaniasis |
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Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Rhinitis, Hypoalb... |
ORPHA:507 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... |
OMIM:618398 |
Multicentric Reticulohistiocytosis |
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Arthritis, Histiocytosis |
ORPHA:139436 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Recurrent... |
OMIM:301078 |
Generalized Eruptive Histiocytosis |
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Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis |
ORPHA:157991 |
Lymphoproliferative Syndrome 2 |
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Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Hepa... |
OMIM:615122 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hyponatremia, Hypoproteinemia, Pancytopenia, Hypertriglyceridemia, Skin rash, Reduced natural kil... |
OMIM:603553 |
Autoinflammatory-Pancytopenia Syndrome |
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Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Hepa... |
OMIM:619858 |
Hemophagocytic Syndrome Associated With An Infection |
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Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A... |
ORPHA:158048 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Hypertriglyceridemia, Inc... |
OMIM:267700 |
Congenital Enterovirus Infection |
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Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Hepatitis... |
ORPHA:292 |
Sea-Blue Histiocyte Disease |
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Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Immunodeficiency 91 And Hyperinflammation |
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Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated circula... |
OMIM:619644 |
Griscelli Syndrome Type 2 |
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Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
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Abnormal macrophage morphology, Elevated circulating creatine kinase concentration |
ORPHA:353 |
Graft Versus Host Disease |
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Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... |
ORPHA:39812 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Hyponatremia, S... |
ORPHA:167 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:233710 |
Sea-Blue Histiocytosis |
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Splenomegaly, Blepharitis, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Lysinuric Protein Intolerance |
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Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Leukopenia, Abnormal circu... |
ORPHA:470 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:233690 |
Chediak-Higashi Syndrome |
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Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Abnormal dense gr... |
OMIM:214500 |
Autoimmune Polyendocrinopathy Type 4 |
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Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Chr... |
ORPHA:227990 |
Autoimmune Polyendocrinopathy Type 3 |
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Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Chr... |
ORPHA:227982 |
Niemann-Pick Disease, Type A |
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Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Microcytic anemia |
OMIM:257200 |
Granulomatous Disease, Chronic, X-Linked |
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Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:306400 |
Listeriosis |
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Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Abscess, Pustule, Myocardit... |
ORPHA:533 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
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Panniculitis, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
H Syndrome |
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Psoriasiform dermatitis, Hypertriglyceridemia, Microcytic anemia, Bronchiectasis, Hepatosplenomeg... |
ORPHA:168569 |
Lysinuric Protein Intolerance |
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Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalveolar phosphol... |
OMIM:222700 |
Acrokeratoelastoidosis Of Costa |
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Granulomatosis |
ORPHA:38 |
Granulomatosis With Polyangiitis |
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Episcleritis, Sinusitis, Keratitis, Uveitis, Granulomatosis, Conjunctivitis, Chronic otitis media |
OMIM:608710 |
Primary Sclerosing Cholangitis |
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Abnormal eosinophil morphology, Splenomegaly, Thyroiditis, Ulcerative colitis, Hepatitis, Uveitis... |
ORPHA:171 |
Granulomatosis With Polyangiitis |
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Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Elevated circulating C-react... |
ORPHA:900 |
Pauci-Immune Glomerulonephritis |
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Glomerulonephritis, Elevated circulating creatinine concentration, Crescentic glomerulonephritis,... |
ORPHA:93126 |
Niemann-Pick Disease, Type C1 |
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Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells |
OMIM:257220 |
Gm1-Gangliosidosis, Type Ii |
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Splenomegaly, Sea-blue histiocytosis |
OMIM:230600 |
Niemann-Pick Disease, Type C2 |
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Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells |
OMIM:607625 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Episcleritis, Histiocytosis, Splenomegaly, Hepatosplenomegaly |
OMIM:602782 |
Systemic-Onset Juvenile Idiopathic Arthritis |
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Anterior uveitis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration,... |
ORPHA:85414 |
Juvenile Arthritis |
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Thrombocytosis, Leukocytosis, Skin rash |
OMIM:618795 |