Lymphoproliferative Syndrome, X-Linked, 2 |
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Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infection... |
OMIM:300635 |
Pentosuria |
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Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Macrophage Activation Syndrome |
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Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:158061 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Hepatocellular Carcinoma |
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Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Complement Component C1S Deficiency |
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Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Adult-Onset Still Disease |
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Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Elevated circ... |
ORPHA:829 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Dietary Iron Overload Disease |
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Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Lymphopenia, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenom... |
ORPHA:169160 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... |
OMIM:194380 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv... |
OMIM:308240 |
Alpha-1-Antitrypsin Deficiency |
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Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Congenital Disorder Of Glycosylation, Type Iih |
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Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... |
OMIM:611182 |
Autoimmune Hepatitis |
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Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
Beta-Thalassemia |
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Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Congenital Enterovirus Infection |
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Abnormal macrophage morphology, Skin rash, Thrombocytopenia, Leukocytosis, Myocarditis, Hepatitis... |
ORPHA:292 |
Bile Acid Synthesis Defect, Congenital, 4 |
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Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... |
ORPHA:572 |
Griscelli Syndrome |
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Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin... |
ORPHA:381 |
Porphyria Cutanea Tarda |
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Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Recurrent bacterial ... |
ORPHA:101330 |
X-Linked Agammaglobulinemia |
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Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Rec... |
ORPHA:47 |
Autosomal Agammaglobulinemia |
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Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma... |
ORPHA:33110 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ... |
OMIM:304790 |
Complement Component 4B Deficiency |
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Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia |
OMIM:614379 |
Avian Influenza |
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Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:454836 |
Primary Biliary Cholangitis |
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Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia, Jaundice, He... |
ORPHA:186 |
Wilson Disease |
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Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis,... |
ORPHA:37042 |
Congenital Bile Acid Synthesis Defect Type 4 |
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Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
Immunodeficiency 56 |
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Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori... |
OMIM:615207 |
Graft Versus Host Disease |
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Elevated hepatic transaminase, Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammat... |
ORPHA:39812 |
Bacterial Toxic-Shock Syndrome |
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Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... |
ORPHA:36234 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... |
ORPHA:139402 |
Bare Lymphocyte Syndrome, Type Ii |
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Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Agamm... |
OMIM:209920 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
Primary Sclerosing Cholangitis |
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Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis... |
ORPHA:171 |
Congenital Disorder Of Glycosylation, Type It |
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Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:614921 |
Immunodeficiency 89 And Autoimmunity |
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Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Autoimmune Lymphoproliferative Syndrome |
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Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
Legionnaires Disease |
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Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Bone ma... |
ORPHA:549 |
Congenital Isolated Acth Deficiency |
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Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice |
ORPHA:199296 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
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Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis |
OMIM:238970 |
Aspergillosis |
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Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Increased circulating IgE level, Br... |
ORPHA:1163 |
Trichohepatoenteric Syndrome 2 |
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Hepatomegaly, Decreased serum iron, Chronic hepatitis, Colitis, Cirrhosis |
OMIM:614602 |
Hepatitis, Fulminant Viral, Susceptibility To |
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Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... |
OMIM:618549 |
Agammaglobulinemia, X-Linked |
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T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
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Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:613404 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
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Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melan... |
OMIM:208085 |
Q Fever |
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Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... |
ORPHA:781 |
Melioidosis |
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Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl... |
ORPHA:31202 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
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Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... |
ORPHA:183675 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
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Hepatitis |
ORPHA:363523 |
Wilson Disease |
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Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb... |
OMIM:277900 |
Ebola Hemorrhagic Fever |
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Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod... |
ORPHA:319218 |
Dominant Beta-Thalassemia |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... |
OMIM:619381 |
Autoimmune Polyendocrinopathy Type 4 |
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Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho... |
ORPHA:227990 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... |
OMIM:243150 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... |
OMIM:610199 |
Autoimmune Polyendocrinopathy Type 3 |
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Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho... |
ORPHA:227982 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p... |
ORPHA:83471 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
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Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Hashimot... |
OMIM:613385 |
Isolated Sedoheptulokinase Deficiency |
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Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis... |
ORPHA:440713 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
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Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Neutropenia... |
ORPHA:228426 |
Late-Onset Isolated Acth Deficiency |
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Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, He... |
ORPHA:199299 |
Aicardi-Goutieres Syndrome 7 |
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Hemolytic anemia, Pancytopenia, Atrophic gastritis, Hepatomegaly, Chilblains, Pneumonia, Skin ras... |
OMIM:615846 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto... |
ORPHA:391487 |
Alstrom Syndrome |
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Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Chroni... |
OMIM:203800 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ... |
OMIM:269200 |
Eosinophil Peroxidase Deficiency |
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Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Cryoglobulinemic Vasculitis |
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Viral hepatitis, Hepatomegaly, Splenomegaly, Arthritis, Keratoconjunctivitis sicca, Abnormality o... |
ORPHA:91138 |
Rift Valley Fever |
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Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Anemia, Increased circula... |
ORPHA:319251 |
Microsporidiosis |
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Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Nephritis, Infectious... |
ORPHA:2552 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea... |
ORPHA:415 |
Lichen Planopilaris |
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Hepatitis |
ORPHA:525 |
Postinfectious Vasculitis |
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Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... |
ORPHA:48435 |
Myasthenia Gravis |
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Hemolytic anemia, Myositis, Pure red cell aplasia, Hepatitis, Rheumatoid arthritis, Hashimoto thy... |
ORPHA:589 |
Simple Cryoglobulinemia |
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Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... |
ORPHA:91139 |
Mccune-Albright Syndrome |
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Pancytopenia, Hepatitis, Cholestasis, Hepatocellular adenoma, Bone marrow hypocellularity, Hypoph... |
ORPHA:562 |
Cirrhosis, Familial |
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Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop... |
OMIM:215600 |
Spondyloenchondrodysplasia |
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Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Hep... |
ORPHA:1855 |
Eosinophilic Fasciitis |
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Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis |
ORPHA:3165 |
Primary Sjögren Syndrome |
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Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
Idiopathic Hypereosinophilic Syndrome |
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Elevated hepatic transaminase, Inflammatory abnormality of the skin, Neutrophilia, Eosinophilia, ... |
ORPHA:3260 |
Leptospirosis |
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Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Hyperproteinemia, Optic neur... |
ORPHA:509 |
Zygomycosis |
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Brain abscess, Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, ... |
ORPHA:73263 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... |
OMIM:240300 |
Gaucher Disease |
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Hepatomegaly, Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration,... |
ORPHA:355 |
Idiopathic Acute Eosinophilic Pneumonia |
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Abnormal eosinophil morphology |
ORPHA:724 |
Mucopolysaccharidosis Type 7 |
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Splenomegaly, Hepatitis |
ORPHA:584 |
Chronic Mucocutaneous Candidiasis |
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Cheilitis, Skin rash, Hepatitis |
ORPHA:1334 |
Kawasaki Disease |
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Pericarditis, Skin rash, Myocarditis, Leukocytosis, Jaundice, Hepatitis, Cheilitis, Arthritis, Co... |
ORPHA:2331 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... |
ORPHA:728 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Bronchiectasis |
ORPHA:1164 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Rectal abscess, Hypoplasia of th... |
ORPHA:436252 |
Acute Disseminated Encephalomyelitis |
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Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis |
ORPHA:83597 |
Lujo Hemorrhagic Fever |
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Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Elevated circulating C-reactiv... |
ORPHA:319213 |
Acute Liver Failure |
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Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, ... |
ORPHA:90062 |
Occipital Horn Syndrome |
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Esophagitis, Jaundice, Hepatitis, Cholestasis |
ORPHA:198 |
Wiskott-Aldrich Syndrome |
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Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
Alström Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Glomerulonephritis, Portal hyp... |
ORPHA:64 |