Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 24 |
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Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Agammaglobulinemia 8A, Autosomal Dominant |
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Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 62 |
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Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... |
OMIM:618459 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Hemochromatosis, Type 5 |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
Iron Overload, Susceptibility To |
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Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
Immunodeficiency, Common Variable, 13 |
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Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency 84 |
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Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Agammaglobulinemia 10, Autosomal Dominant |
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Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Agammaglobulinemia 3, Autosomal Recessive |
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Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Agammaglobulinemia 2, Autosomal Recessive |
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Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
Immunodeficiency 19 |
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T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Cernunnos-Xlf Deficiency |
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Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... |
OMIM:615513 |
Genetic Hyperferritinemia Without Iron Overload |
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Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:205950 |
Agammaglobulinemia 6, Autosomal Recessive |
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Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Immunodeficiency 76 |
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Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Gracile Syndrome |
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Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
Immunodeficiency 102 |
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Decreased circulating IgG level, Partial absence of specific antibody response to Haemophilus inf... |
OMIM:301082 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Leukocytosis, Monocytosis, Decreased circulating total IgM, B lymphocytopenia, Thro... |
OMIM:619281 |
Immunodeficiency 21 |
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Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Immunodeficiency 109 With Lymphoproliferation |
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Pancytopenia, Splenomegaly, Absent circulating B cells, Decreased circulating IgG level, Complete... |
OMIM:620282 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
Immunodeficiency 70 |
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Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Immunodeficiency 13 |
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Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Immunodeficiency 57 With Autoinflammation |
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Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Hjv Or Hamp-Related Hemochromatosis |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Hypogonadism, Abno... |
ORPHA:79230 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia |
OMIM:601457 |
46,Xy Ovotesticular Difference Of Sex Development |
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Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... |
ORPHA:325345 |
Immunodeficiency, Common Variable, 1 |
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Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class... |
OMIM:607594 |
Mu-Heavy Chain Disease |
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Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia |
ORPHA:100024 |
Hemochromatosis, Type 2B |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:613313 |
Immunodeficiency 36 With Lymphoproliferation |
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Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ... |
OMIM:616005 |
Immunodeficiency 43 |
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Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... |
OMIM:241600 |
Agammaglobulinemia 9, Autosomal Recessive |
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Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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T lymphocytopenia, Lymphopenia, B lymphocytopenia, Increased circulating IgE level |
ORPHA:277 |
Immunodeficiency 68 |
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T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Decreased circulating IgG level, Pancytopenia, Impaired neutrophil chemotaxis, Partial absence of... |
OMIM:618986 |
Hemochromatosis, Type 3 |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:604250 |
Hemochromatosis, Neonatal |
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Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis |
OMIM:231100 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Azoospermia, Hypog... |
OMIM:615234 |
Immunodeficiency 92 |
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Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Increas... |
OMIM:618048 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
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Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... |
OMIM:614069 |
Hemochromatosis, Type 2A |
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Increased circulating ferritin concentration, Azoospermia, Increased serum iron, Hypogonadotropic... |
OMIM:602390 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph... |
OMIM:301078 |
Autoinflammatory Disease, Systemic, X-Linked |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
X-Linked Sideroblastic Anemia |
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Abnormality of iron homeostasis |
ORPHA:75563 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
Omenn Syndrome |
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Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
Activated Pi3K-Delta Syndrome |
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Splenomegaly, B lymphocytopenia, Increased circulating IgM level, Decreased circulating antibody ... |
ORPHA:397596 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... |
OMIM:102700 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Leukodystrophy, Hypomyelinating, 24 |
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B lymphocytopenia |
OMIM:619851 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop... |
OMIM:602450 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
ORPHA:766 |
Gracile Syndrome |
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Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Increased circulating ferritin concentration, Azoospermia, Increased serum iron, Hypogonadism, El... |
ORPHA:300298 |
Agammaglobulinemia 1, Autosomal Recessive |
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Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... |
OMIM:601495 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Immunodeficiency 17 |
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Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
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T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Beta-Thalassemia |
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Hypogonadotropic hypogonadism, Abnormality of iron homeostasis |
ORPHA:848 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Agammaglobulinemia, X-Linked |
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Agammaglobulinemia, T lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia, Decrea... |
OMIM:300755 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin... |
ORPHA:465508 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... |
ORPHA:508542 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Abnormal T cell subset distribution, Decreased circulating antibody level, Decreased circulating ... |
ORPHA:221139 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Anemia, Decreased ci... |
OMIM:620005 |
Beta-Thalassemia Intermedia |
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Hypogonadism, Abnormality of iron homeostasis, Elevated hepatic iron concentration |
ORPHA:231222 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Abnormal lymphocyte morphology, Decreased circulating antibody level, Severe B lymphocytopenia, A... |
ORPHA:293978 |
Alg12-Cdg |
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Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Trichohepatoenteric Syndrome 1 |
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Hypospadias, Increased serum iron, Hypoalbuminemia, Hypermethioninemia, Abnormality of iron homeo... |
OMIM:222470 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:391487 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Abnormal blood inorganic cation concentration, Hyperglycinemia, Increased total iron binding capa... |
ORPHA:309854 |
Nijmegen Breakage Syndrome |
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Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... |
OMIM:251260 |
Dominant Beta-Thalassemia |
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Abnormality of iron homeostasis |
ORPHA:231226 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased proportion of naive T cells, Splenomegaly, Decreased circulating total IgA, T lymphocyt... |
OMIM:619381 |
Beta-Thalassemia Major |
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Abnormality of iron homeostasis |
ORPHA:231214 |
Syndromic Diarrhea |
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Abnormality of iron homeostasis |
ORPHA:84064 |