Immunodeficiency 88 |
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Eosinophilia |
OMIM:619630 |
Nevoid Hypermelanosis, Linear And Whorled |
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Eosinophilia |
OMIM:614323 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
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Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Neutropenia, Lethal Congenital, With Eosinophilia |
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Neutropenia, Eosinophilia |
OMIM:257100 |
Eosinophilia, Familial |
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Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Pentosuria |
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Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Ichthyosis-Prematurity Syndrome |
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Eosinophilia |
ORPHA:88621 |
Eosinophil Peroxidase Deficiency |
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Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Acute Myelomonocytic Leukemia |
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Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Macrosomia Adiposa Congenita |
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Eosinophilia |
OMIM:248100 |
Hypereosinophilic Syndrome, Idiopathic |
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Splenomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Juvenile Temporal Arteritis |
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Leukocytosis, Eosinophilia |
ORPHA:26137 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
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Lymphopenia, Eosinophilia |
ORPHA:2582 |
Generalized Eruptive Histiocytosis |
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Hypereosinophilia, Histiocytosis, Leukemia |
ORPHA:157991 |
Halothane Hepatitis |
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Eosinophilia |
OMIM:234350 |
Eosinophilopenia |
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Decreased eosinophil count |
OMIM:131430 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
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Eosinophilia, Elevated circulating creatine kinase concentration |
OMIM:253600 |
Kimura Disease |
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Eosinophilia |
ORPHA:482 |
Immunodeficiency 32B |
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Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... |
OMIM:226990 |
Roifman Syndrome |
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Short toe, Hip contracture, Delayed proximal femoral epiphyseal ossification, Clinodactyly of the... |
ORPHA:353298 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
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Hip dislocation, Eosinophilia, Clubbing |
OMIM:618523 |
Cinca Syndrome |
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Anemia, Hepatosplenomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
OMIM:607115 |
Immunodeficiency 97 With Autoinflammation |
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Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Roifman Syndrome |
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Short toe, Hip contracture, Short metacarpal, Short digit, Clinodactyly of the 5th finger, Eosino... |
OMIM:616651 |
Esophagitis, Eosinophilic, 1 |
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Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
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Eosinophilia |
OMIM:613412 |
Autoimmune Lymphoproliferative Syndrome |
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Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased... |
OMIM:601859 |
Eosinophilic Gastroenteritis |
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Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal... |
ORPHA:2070 |
Immunodeficiency 11B With Atopic Dermatitis |
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Eosinophilia |
OMIM:617638 |
Wells Syndrome |
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Eosinophilia |
ORPHA:901 |
Eosinophilic Fasciitis |
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Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
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Abnormally low T cell receptor excision circle level, Eosinophilia |
OMIM:618092 |
Omenn Syndrome |
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Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hypoproteinemia, E... |
OMIM:603554 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
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Coxa valga, Narrow greater sciatic notch, Delayed ossification of carpal bones, Lymphopenia, Disl... |
OMIM:617425 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
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Cutaneous abscess, Eosinophilia |
OMIM:147060 |
Autosomal Dominant Severe Congenital Neutropenia |
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Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... |
ORPHA:486 |
Immunodeficiency 7 |
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Hypereosinophilia, Autoimmune hemolytic anemia, Neutropenia, Splenomegaly |
OMIM:615387 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:603909 |
Omenn Syndrome |
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Short toe, Anemia, Eosinophilia, Leukocytosis, Abnormal metaphysis morphology, Splenomegaly, Abno... |
ORPHA:39041 |
Peeling Skin Syndrome 1 |
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Eosinophilia |
OMIM:270300 |
Immunodeficiency 25 |
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Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia |
OMIM:610163 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Hypereosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:2902 |
Immunodeficiency 49 |
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T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... |
ORPHA:331206 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Aspergillosis |
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Abnormal rib morphology, Neutropenia, Abnormal long bone morphology, Eosinophilia |
ORPHA:1163 |
Autoinflammation With Arthritis And Dyskeratosis |
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Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Elevated circulating C-reactive pro... |
OMIM:617388 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly |
ORPHA:169160 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop... |
OMIM:304790 |
Idiopathic Acute Eosinophilic Pneumonia |
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Abnormal eosinophil morphology |
ORPHA:724 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Anterior rib cupping, B lymphocytopenia, Growth arrest lines, Lymphopenia, Abnormal pelvic girdle... |
OMIM:102700 |
Thrombocytopenia-Absent Radius Syndrome |
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Short phalanx of finger, Absent thumb, Coxa valga, Hip dislocation, Cervical ribs, Phocomelia, He... |
OMIM:274000 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
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Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
O'Sullivan-Mcleod Syndrome |
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Eosinophilia |
ORPHA:99965 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
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Reduced natural killer cell count, Eosinophilia, Decreased proportion of CD4-positive helper T cells |
OMIM:243700 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
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Sterile abscess, Cutaneous abscess, Eosinophilia |
OMIM:618282 |
Igg4-Related Aortitis |
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Hypereosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:449400 |
Pgm3-Cdg |
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Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... |
ORPHA:443811 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Short phalanx of finger, Hypereosinophilia, Broad phalanges of the hand, Preaxial hand polydactyl... |
ORPHA:508533 |
Hereditary Folate Malabsorption |
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Thrombocytopenia, Megaloblastic anemia, Pancytopenia, Eosinophilia |
ORPHA:90045 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos... |
ORPHA:911 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Aplasia of ... |
OMIM:602450 |
Netherton Syndrome |
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Hypereosinophilia |
OMIM:256500 |
Loeffler Endocarditis |
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Eosinophilia |
ORPHA:75566 |
Cystic Echinococcosis |
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Peritoneal abscess, Hyperbilirubinemia, Splenic cyst, Eosinophilia, Abscess |
ORPHA:400 |
Late-Onset Isolated Acth Deficiency |
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Hyperuricemia, Normocytic anemia, Hyperkalemia, Hypercalcemia, Eosinophilia, Hyponatremia, Macroc... |
ORPHA:199299 |
Immunodeficiency 23 |
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Hemolytic anemia, Lymphopenia, Eosinophilia, Neutropenia, Abscess |
OMIM:615816 |
Scleroderma |
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Osteolytic defects of the phalanges of the hand, Hypereosinophilia, Finger swelling, Abnormal pha... |
ORPHA:801 |
Immunodeficiency 89 And Autoimmunity |
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Hypochromic microcytic anemia, Decreased eosinophil count, Elevated circulating C-reactive protei... |
OMIM:619632 |
Iga Pemphigus |
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Cutaneous abscess, Eosinophilia |
ORPHA:555905 |
Autoimmune Lymphoproliferative Syndrome |
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Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... |
ORPHA:3261 |
Allergic Bronchopulmonary Aspergillosis |
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Abnormal eosinophil morphology |
ORPHA:1164 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Lymphocytosis, Eosinophilia |
ORPHA:139402 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum |
OMIM:140850 |
Autosomal Dominant Hyper-Ige Syndrome |
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Eosinophilia |
ORPHA:2314 |
Incontinentia Pigmenti |
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Camptodactyly of finger, Finger syndactyly, Supernumerary ribs, Eosinophilia, Deviation of finger... |
ORPHA:464 |
Cyclic Neutropenia |
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Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... |
ORPHA:2686 |
Alveolar Echinococcosis |
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Anemia, Liver abscess, Abnormal spleen morphology, Cutaneous abscess, Abnormal pelvis bone morpho... |
ORPHA:284 |
Eosinophilic Granulomatosis With Polyangiitis |
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Eosinophilia |
ORPHA:183 |
Angiostrongyliasis |
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Hypereosinophilia |
ORPHA:74 |
Idiopathic Hypereosinophilic Syndrome |
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Anemia, Neutrophilia, Hepatosplenomegaly, Clubbing, Thrombocytosis, Eosinophilia, Myeloproliferat... |
ORPHA:3260 |
Incontinentia Pigmenti |
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Leukocytosis, Supernumerary ribs, Eosinophilia |
OMIM:308300 |
Coccidioidomycosis |
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Abnormal long bone morphology, Granuloma, Abnormal metacarpal morphology, Broad metatarsal, Eosin... |
ORPHA:228123 |
Mucoepithelial Dysplasia, Hereditary |
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Eosinophilia |
OMIM:158310 |
Igg4-Related Pachymeningitis |
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Elevated circulating C-reactive protein concentration, Eosinophilia |
ORPHA:449427 |
Wiskott-Aldrich Syndrome |
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Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... |
OMIM:301000 |
Igg4-Related Ophthalmic Disease |
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Elevated circulating C-reactive protein concentration, Eosinophilia |
ORPHA:449563 |
Lymphatic Filariasis |
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Hypereosinophilia |
ORPHA:2035 |
Igg4-Related Kidney Disease |
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Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... |
ORPHA:449395 |
Igg4-Related Submandibular Gland Disease |
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Eosinophilia |
ORPHA:449432 |
Sarcoidosis |
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Leukopenia, Anemia, Hemolytic anemia, Increased T cell count, Hypercalcemia, Eosinophilia, Thromb... |
ORPHA:797 |
Craniorachischisis |
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Bifid sternum |
ORPHA:63260 |
Wiskott-Aldrich Syndrome |
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Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lymphopenia, ... |
ORPHA:906 |
Tropical Endomyocardial Fibrosis |
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Splenomegaly, Eosinophilia, Hypoalbuminemia |
ORPHA:75565 |
Viss Syndrome |
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Hypereosinophilia, Genu valgum, Hip dysplasia, Hip dislocation, Long toe, Arachnodactyly, Contrac... |
OMIM:619472 |
Primary Sclerosing Cholangitis |
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Abnormal eosinophil morphology, Hepatosplenomegaly, Histiocytosis, Splenomegaly, Hypoalbuminemia |
ORPHA:171 |
Cushing Disease |
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Leukocytosis, Decreased eosinophil count, Lymphopenia |
ORPHA:96253 |
Coffin-Lowry Syndrome |
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Coxa valga, Tapered finger, Short metacarpal, Hyperextensibility of the finger joints, Narrow ili... |
OMIM:303600 |
Dermatomyositis |
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Abnormal eosinophil morphology |
ORPHA:221 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Leukocytosis, Decreased eosinophil count, Lymphopenia |
ORPHA:99889 |
3-Methylglutaconic Aciduria Type 1 |
|
|
ORPHA:67046 |
3-Methylglutaconic Aciduria, Type I |
|
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OMIM:250950 |