Benign Cephalic Histiocytosis |
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Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
Neutropenia-Monocytopenia-Deafness Syndrome |
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Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Autoinflammatory-Pancytopenia Syndrome |
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Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Hepa... |
OMIM:619858 |
Histiocytosis, Progressive Mucinous |
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Mucinous histiocytosis |
OMIM:142630 |
Multicentric Reticulohistiocytosis |
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Arthritis, Cachexia, Histiocytosis |
ORPHA:139436 |
Hereditary Progressive Mucinous Histiocytosis |
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Mucinous histiocytosis |
ORPHA:158025 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Hepatomegaly, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, S... |
OMIM:300635 |
Histiocytosis, Familial Lipochrome |
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Histiocytosis |
OMIM:235900 |
Sea-Blue Histiocyte Disease |
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Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Anemia, Conjunctivitis, Hemophagocytosis, Neutro... |
OMIM:603552 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
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Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Papular Xanthoma |
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Histiocytosis |
ORPHA:158008 |
Immunodeficiency 27A |
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Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weigh... |
OMIM:209950 |
Niemann-Pick Disease, Type B |
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Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Leishmaniasis |
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Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
Griscelli Syndrome, Type 2 |
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Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Generalized Eruptive Histiocytosis |
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Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis |
ORPHA:157991 |
Ataxia-Pancytopenia Syndrome |
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Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, B lymphocytope... |
OMIM:301078 |
Immunodeficiency 97 With Autoinflammation |
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Monocytopenia, Autoimmune hemolytic anemia, Recurrent skin infections, Eczema, Decreased proporti... |
OMIM:619802 |
Immunodeficiency 91 And Hyperinflammation |
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Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife... |
OMIM:619644 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Splenomegaly, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Recurrent sinusitis, Thrombo... |
OMIM:613101 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphocytosis, He... |
OMIM:308240 |
Lymphoproliferative Syndrome 2 |
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Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... |
OMIM:615122 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... |
ORPHA:158057 |
Macrophage Activation Syndrome |
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Increased inflammatory response, Hepatomegaly, Elevated circulating aspartate aminotransferase co... |
ORPHA:158061 |
Niemann-Pick Disease, Type A |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... |
OMIM:257200 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
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Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Graft Versus Host Disease |
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Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... |
ORPHA:39812 |
Congenital Enterovirus Infection |
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Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Hepatitis... |
ORPHA:292 |
Familial Hemophagocytic Lymphohistiocytosis |
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Elevated hepatic transaminase, Hepatomegaly, Skin rash, Maculopapular exanthema, Thrombocytopenia... |
ORPHA:540 |
Sea-Blue Histiocytosis |
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Hepatomegaly, Splenomegaly, Sea-blue histiocytosis, Blepharitis, Thrombocytopenia |
ORPHA:158029 |
Griscelli Syndrome Type 2 |
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Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Primary Sclerosing Cholangitis |
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Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the... |
ORPHA:171 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233710 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Thrombocytopenia, Splenomeg... |
OMIM:603553 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233690 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia |
OMIM:618398 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Hepatomegaly, Splenomegaly, Jaundice, Anemia, Leukopenia, Hemophagocytosis, Failure to thrive, In... |
OMIM:267700 |
Chediak-Higashi Syndrome |
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Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Abn... |
OMIM:214500 |
Hemophagocytic Syndrome Associated With An Infection |
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Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... |
ORPHA:158048 |
Autoimmune Polyendocrinopathy Type 4 |
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Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Chr... |
ORPHA:227990 |
Granulomatous Disease, Chronic, X-Linked |
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Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:306400 |
Listeriosis |
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Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec... |
ORPHA:533 |
Autoimmune Polyendocrinopathy Type 3 |
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Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Chr... |
ORPHA:227982 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
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Abnormal macrophage morphology |
ORPHA:353 |
Niemann-Pick Disease, Type C1 |
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Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Splenomegaly, Sea-blue hist... |
OMIM:257220 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Elevated hepati... |
ORPHA:167 |
Granulomatosis With Polyangiitis |
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Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Granulomatosis, Conjunctivitis, Chronic... |
OMIM:608710 |
Gm1-Gangliosidosis, Type Ii |
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Splenomegaly, Failure to thrive, Sea-blue histiocytosis, Hepatomegaly |
OMIM:230600 |
Lysinuric Protein Intolerance |
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Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Truncal obesity, Hemophagocytosis, Failure to thr... |
OMIM:222700 |
Niemann-Pick Disease, Type C2 |
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Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytosis, Prolonged n... |
OMIM:607625 |
H Syndrome |
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Psoriasiform dermatitis, Diabetes mellitus, Microcytic anemia, Bronchiectasis, Hepatosplenomegaly... |
ORPHA:168569 |
Acrokeratoelastoidosis Of Costa |
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Granulomatosis |
ORPHA:38 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Episcleritis, Hepatomegaly, Retroperitoneal fibrosis, Splenomegaly, Hepatosplenomegaly, Type I di... |
OMIM:602782 |
Lysinuric Protein Intolerance |
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Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Glomerulonephritis, Thrombocytope... |
ORPHA:470 |
Granulomatosis With Polyangiitis |
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Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Weight loss, Inflammatory ab... |
ORPHA:900 |
Pauci-Immune Glomerulonephritis |
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Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Granu... |
ORPHA:93126 |