Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280794 |
Immunodeficiency 86 |
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Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Neutrophil Immunodeficiency Syndrome |
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Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Indolent Systemic Mastocytosis |
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Skin rash, Maculopapular exanthema, Splenomegaly, Osteoporosis, Increased proportion of CD25+ mas... |
ORPHA:98848 |
Specific Granule Deficiency 1 |
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Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Granulomatous disease with defect in neutrophil chemotaxis |
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Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Glycoprotein Storage Disease |
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Splenomegaly, Gout |
OMIM:232900 |
Mastocytosis, Cutaneous |
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Cutaneous mastocytosis |
OMIM:154800 |
Mast Cell Sarcoma |
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Mastocytosis, Splenomegaly |
ORPHA:66661 |
Aggressive Systemic Mastocytosis |
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Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosi... |
ORPHA:98850 |
Bullous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Osteoarthritis Susceptibility 3 |
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Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... |
OMIM:607850 |
Focal Facial Dermal Dysplasia Type Iv |
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Abnormal mast cell morphology |
ORPHA:398189 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
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Cutaneous mastocytosis, Joint contracture of the 5th finger |
OMIM:248910 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Chondrocalcinosis 2 |
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Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis |
OMIM:118600 |
Felty Syndrome |
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Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Immunodeficiency 32B |
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Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... |
OMIM:226990 |
Immunodeficiency 61 |
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Decreased circulating IgG4 level, Agammaglobulinemia, Arthritis, Decreased circulating total IgM,... |
OMIM:300310 |
Immunodeficiency 81 |
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Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... |
OMIM:601457 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
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Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Limitation of joint mobility, Sy... |
ORPHA:85435 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
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Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Elbow flexion contracture, Knee flexion co... |
OMIM:604416 |
Oligoarticular Juvenile Idiopathic Arthritis |
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Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... |
ORPHA:85410 |
Chondrocalcinosis 1 |
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Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
Congenital Disorder Of Glycosylation, Type Iic |
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Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media |
OMIM:266265 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Systemic Lupus Erythematosus |
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Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... |
OMIM:152700 |
Macrophage Activation Syndrome |
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Increased inflammatory response, Increased circulating interleukin 6 concentration, Autoimmunity,... |
ORPHA:158061 |
Subcorneal Pustular Dermatosis |
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Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... |
ORPHA:48377 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Thro... |
ORPHA:167 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... |
ORPHA:275 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au... |
OMIM:616100 |
Papa Syndrome |
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Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... |
ORPHA:69126 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Abscess, Perianal absce... |
OMIM:618935 |
Hennekam-Beemer Syndrome |
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Mastocytosis, Camptodactyly of finger, Pneumonia, Delayed cranial suture closure |
ORPHA:2135 |
Necrobiosis Lipoidica |
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Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Pyoderma Gangrenosum |
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Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti... |
OMIM:613470 |
Selective Igm Deficiency |
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Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
Familial Hemophagocytic Lymphohistiocytosis |
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Increased circulating interleukin 6 concentration, Skin rash, Maculopapular exanthema, Reduced na... |
ORPHA:540 |
Sjogren Syndrome |
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Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Sweet Syndrome |
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Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness... |
ORPHA:85436 |
Gamma-Heavy Chain Disease |
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Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, ... |
ORPHA:100026 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri... |
ORPHA:85408 |
Interstitial Granulomatous Dermatitis With Arthritis |
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Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis |
ORPHA:79099 |
Secondary Non-Traumatic Avascular Necrosis |
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Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:399180 |
Systemic-Onset Juvenile Idiopathic Arthritis |
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Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Splenomegaly, Joint swelling, Juvenile r... |
ORPHA:85414 |
Autoimmune Polyendocrinopathy Type 4 |
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Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Macrocytic anemia, Autoimmu... |
ORPHA:227990 |
Thymoma |
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Myositis, Aplastic anemia, Glomerulonephritis, Autoimmunity, Pure red cell aplasia, Anti-acetylch... |
ORPHA:99867 |
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 |
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 |
Autoimmune Polyendocrinopathy Type 3 |
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Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Macrocytic anemia, Autoimmu... |
ORPHA:227982 |
Rheumatoid Arthritis |
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Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join... |
OMIM:180300 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:233690 |
Aregenerative Anemia |
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Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Chediak-Higashi Syndrome |
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Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Abnormal dense gr... |
OMIM:214500 |
Adult Acute Respiratory Distress Syndrome |
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Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... |
ORPHA:70578 |
Achalasia, Familial Esophageal |
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Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
Acute Lung Injury |
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Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Abnormality of ... |
ORPHA:178320 |
Myasthenia Gravis |
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Hemolytic anemia, Myositis, Pure red cell aplasia, Anti-acetylcholine receptor antibody positivit... |
ORPHA:589 |
Overlap Myositis |
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Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste... |
ORPHA:206572 |
Granulomatous Disease, Chronic, X-Linked |
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Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:306400 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Neutropeni... |
OMIM:607944 |
Leukocyte Adhesion Deficiency |
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Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
Igg4-Related Retroperitoneal Fibrosis |
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Normocytic anemia, Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivascular ... |
ORPHA:49041 |
Infection-Related Hemolytic Uremic Syndrome |
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Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration, Pneumonia, My... |
ORPHA:544482 |
Congenital Tricuspid Stenosis |
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Rheumatoid arthritis, Bacterial endocarditis |
ORPHA:95459 |
Parenteral Nutrition-Associated Cholestasis |
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Splenomegaly, Abnormality of cytokine secretion |
ORPHA:567983 |