Danubian Endemic Familial Nephropathy |
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Nephropathy |
OMIM:124100 |
Ethanolaminosis |
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Cardiomegaly |
OMIM:227150 |
Nephrotic Syndrome, Type 26 |
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Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s... |
OMIM:620049 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
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Recurrent otitis media, Increased circulating interleukin 6 concentration, Increased circulating ... |
OMIM:618944 |
Nephrotic Syndrome, Type 16 |
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Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:617783 |
Cardiomyopathy, Dilated, 1I |
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Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Aicardi-Goutieres Syndrome 6 |
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Increased circulating Interferon-alpha concentration, Chilblains |
OMIM:615010 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
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Esophageal neoplasm, Cutaneous leiomyoma, Barrett esophagus, Papillary renal cell carcinoma type ... |
ORPHA:523 |
Immunodeficiency 89 And Autoimmunity |
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Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... |
OMIM:619632 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
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Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Arthritis, Synovi... |
ORPHA:85435 |
Disseminated Superficial Actinic Porokeratosis |
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Squamous cell carcinoma, Pruritus |
ORPHA:79152 |
Mycosis Fungoides |
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Neoplasm of the skin, Lymphoma, Eczematoid dermatitis, Psoriasiform dermatitis, Pruritus |
OMIM:254400 |
Immune Dysregulation, Autoimmunity, And Autoinflammation |
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Abnormal circulating C-reactive protein concentration, Increased circulating interleukin 6 concen... |
OMIM:620514 |
Acute Lung Injury |
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Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, E... |
ORPHA:178320 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
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Pneumonia, Salmonella osteomyelitis, Abnormal circulating interleukin concentration, Lymphadenitis |
ORPHA:319552 |
Adult Acute Respiratory Distress Syndrome |
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Pancreatitis, Increased circulating interleukin 6 concentration, Abnormal circulating interleukin... |
ORPHA:70578 |
Aicardi-Goutieres Syndrome 5 |
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Increased circulating interferon-gamma concentration, Chilblains |
OMIM:612952 |
Oligoarticular Juvenile Idiopathic Arthritis |
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Increased circulating interferon-gamma concentration, Arthritis, Knee osteoarthritis, Uveitis, Rh... |
ORPHA:85410 |
Macrophage Activation Syndrome |
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Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:158061 |
Vulvovaginal Gingival Syndrome |
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Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Neutrophilic Dermatosis, Acute Febrile |
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Panniculitis, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive ... |
OMIM:608068 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
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Recurrent otitis media, Increased circulating interleukin 6 concentration, Partial absence of spe... |
OMIM:620430 |
Pilomatrixoma |
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Pilomatrixoma, Neoplasm of head and neck, Pruritus |
ORPHA:91414 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Cardiomegaly |
ORPHA:88643 |
Familial Hemophagocytic Lymphohistiocytosis |
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Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I... |
ORPHA:540 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I... |
ORPHA:542323 |
Sweet Syndrome |
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Increased circulating interleukin 6 concentration, Panniculitis, Elevated circulating C-reactive ... |
ORPHA:3243 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
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Recurrent pneumonia, Bronchiectasis, Reduced circulating interferon gamma concentration, Increase... |
OMIM:301220 |
Cardiomyopathy, Familial Hypertrophic, 27 |
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Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:618052 |
New-Onset Refractory Status Epilepticus |
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Abnormal circulating interleukin concentration, Infectious encephalitis |
ORPHA:363558 |
Intrahepatic Cholestasis Of Pregnancy |
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Abnormal circulating interleukin concentration, Cholecystitis |
ORPHA:69665 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesitis, Iridocyclitis, A... |
ORPHA:85436 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Increased circulating ferritin concentration, Abnormal circulating interleukin concentration, Ele... |
ORPHA:158057 |
Interstitial Cystitis |
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Urinary bladder inflammation, Abnormality of tumor necrosis factor secretion, Elevated circulatin... |
ORPHA:37202 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Abnormal circulating interferon-gamma concentration, Panhypogammaglobulinemia, Chronic mucocutane... |
ORPHA:79124 |
Congenital Tricuspid Valve Dysplasia |
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Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... |
ORPHA:555874 |
Aregenerative Anemia |
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Abnormal circulating interleukin concentration |
ORPHA:101096 |
Infection-Related Hemolytic Uremic Syndrome |
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Myocarditis, Increased circulating interleukin 6 concentration, Pancreatitis, Acute colitis, Abno... |
ORPHA:544482 |
Autoimmune Lymphoproliferative Syndrome |
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Decreased specific anti-polysaccharide antibody level, Gastritis, Increased circulating antibody ... |
ORPHA:3261 |
Aorta Coarctation |
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Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... |
ORPHA:1457 |
Parenteral Nutrition-Associated Cholestasis |
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Abnormality of cytokine secretion |
ORPHA:567983 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Abnormal circulating interferon-gamma concentration, Thyroiditis, Chronic mucocutaneous candidias... |
ORPHA:391487 |
Ectodermal Dysplasia And Immunodeficiency 2 |
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Defective production of NFKB1-dependent cytokines |
OMIM:612132 |