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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Eosinophilia, Neutropenia |
OMIM:257100 |
Juvenile Temporal Arteritis |
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Conjunctivitis, Eosinophilia, Leukocytosis |
ORPHA:26137 |
Eosinophilia, Familial |
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Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
Corneal dystrophy, lisch epithelial |
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Corneal dystrophy |
OMIM:300778 |
Ichthyosis-Prematurity Syndrome |
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Eosinophilia |
ORPHA:88621 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Eosinophil Peroxidase Deficiency |
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Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Acute Myelomonocytic Leukemia |
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Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
Corneal Dystrophy, Endothelial, X-Linked |
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Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
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Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Corneal Dystrophy, Epithelial Basement Membrane |
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Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy |
OMIM:121820 |
Hypereosinophilic Syndrome, Idiopathic |
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Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Eosinophilopenia |
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Decreased eosinophil count |
OMIM:131430 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
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Lymphopenia, Eosinophilia |
ORPHA:2582 |
Generalized Eruptive Histiocytosis |
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Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Schnyder Corneal Dystrophy |
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Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
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Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Corneal Dystrophy, Groenouw Type I |
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Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Ring Dermoid Of Cornea |
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Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... |
OMIM:180550 |
Kimura Disease |
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Eosinophilia |
ORPHA:482 |
Chronic Myeloid Leukemia |
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Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
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Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Wells Syndrome |
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Eosinophilia |
ORPHA:901 |
Cataract-Microcornea Syndrome |
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Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
Esophagitis, Eosinophilic, 1 |
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Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
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Eosinophilia |
OMIM:613412 |
Pupillary Membrane, Persistence Of |
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Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
Dermoids Of Cornea |
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Corneal opacity |
OMIM:304730 |
Macular Dystrophy, Corneal |
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Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy |
OMIM:217800 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
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Eosinophilia, Keratitis |
OMIM:618523 |
Glaucoma 3, Primary Congenital, D |
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Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
Immunodeficiency 32B |
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Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... |
OMIM:226990 |
Immunodeficiency 11B With Atopic Dermatitis |
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Eosinophilia |
OMIM:617638 |
Autoimmune Lymphoproliferative Syndrome |
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Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:601859 |
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 |
Lattice Corneal Dystrophy Type I |
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Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... |
ORPHA:98964 |
Eosinophilic Fasciitis |
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Eosinophilia, Abnormal eosinophil morphology |
ORPHA:3165 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
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Eosinophilia |
OMIM:253600 |
Immunodeficiency 97 With Autoinflammation |
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Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
Corneal Endothelial Dystrophy |
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Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... |
OMIM:217700 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
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Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... |
OMIM:613270 |
Immunodeficiency 7 |
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Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia |
OMIM:615387 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
Spinocerebellar Degeneration And Corneal Dystrophy |
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Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
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Eosinophilia |
OMIM:620532 |
Idiopathic Acute Eosinophilic Pneumonia |
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Abnormal eosinophil morphology |
ORPHA:724 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
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Corneal guttata, Corneal degeneration, Corneal dystrophy |
OMIM:610158 |
Cinca Syndrome |
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Anemia, Eosinophilia, Hepatosplenomegaly, Leukocytosis |
OMIM:607115 |
Anterior Segment Dysgenesis 8 |
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Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
Corneal Dystrophy, Congenital Stromal |
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Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion |
OMIM:610048 |
Peeling Skin Syndrome 1 |
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Eosinophilia |
OMIM:270300 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:603909 |
Autosomal Dominant Severe Congenital Neutropenia |
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Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
O'Sullivan-Mcleod Syndrome |
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Eosinophilia |
ORPHA:99965 |
Corneal Dystrophy And Perceptive Deafness |
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Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
Autoinflammation With Arthritis And Dyskeratosis |
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Hypereosinophilia, Corneal neovascularization, Autoimmune hemolytic anemia, Splenomegaly, Punctat... |
OMIM:617388 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
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Corneal guttata, Corneal dystrophy |
OMIM:615523 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
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Corneal guttata, Corneal stromal edema, Corneal opacity |
OMIM:613267 |
Cataract 21, Multiple Types |
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Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... |
OMIM:610202 |
Immunodeficiency 25 |
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Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
Immunodeficiency 60 And Autoimmunity |
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Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly |
OMIM:618394 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... |
OMIM:304790 |
Immunodeficiency 49 |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
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Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
Megalocornea |
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Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... |
ORPHA:331206 |
Eosinophilic Gastroenteritis |
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Anemia, Eosinophilia, Leukocytosis |
ORPHA:2070 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia |
ORPHA:169160 |
Omenn Syndrome |
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Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... |
OMIM:603554 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
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Cataract, Aniridia, Microcornea |
OMIM:106230 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
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Corneal guttata, Corneal dystrophy |
OMIM:613268 |
Omenn Syndrome |
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Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Anemia |
ORPHA:39041 |
Roifman Syndrome |
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Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Roifman Syndrome |
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Eosinophilia, Splenomegaly |
OMIM:616651 |
Corneal Dystrophy, Thiel-Behnke Type |
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Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy |
OMIM:602082 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
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Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Neutropenia in presence of anti-ne... |
OMIM:615952 |
Cataract 1, Multiple Types |
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Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract |
OMIM:116200 |
Hereditary Folate Malabsorption |
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Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
Anterior Segment Dysgenesis 7 |
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Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
Amoebic Keratitis |
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Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
Bilateral Acute Depigmentation Of The Iris |
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Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... |
ORPHA:69736 |
Acute Generalized Exanthematous Pustulosis |
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Leukocytosis, Eosinophilia, Neutropenia, Neutrophilia, Conjunctivitis |
ORPHA:293173 |
Cornea Plana 2, Autosomal Recessive |
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Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
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Eosinophilia, Cutaneous abscess, Sterile abscess |
OMIM:618282 |
Aspergillosis |
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Eosinophilia, Keratitis, Neutropenia |
ORPHA:1163 |
Anterior Segment Dysgenesis 3 |
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Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... |
OMIM:601631 |
Mucoepithelial Dysplasia, Hereditary |
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Cataract, Corneal neovascularization, Keratoconjunctivitis, Eosinophilia, Opacification of the co... |
OMIM:158310 |
Anterior Segment Dysgenesis 6 |
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Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Granular Corneal Dystrophy Type Ii |
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Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... |
ORPHA:98963 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... |
ORPHA:911 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
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Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
Corneal Dystrophy, Reis-Bucklers Type |
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Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity |
OMIM:608470 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t... |
OMIM:602450 |
Pgm3-Cdg |
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Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity |
ORPHA:293621 |
Granular Corneal Dystrophy Type I |
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Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... |
ORPHA:98962 |
Allergic Bronchopulmonary Aspergillosis |
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Abnormal eosinophil morphology |
ORPHA:1164 |
Peters Anomaly |
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Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
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Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... |
ORPHA:293603 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae |
OMIM:609141 |
Epithelial Recurrent Erosion Dystrophy |
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Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... |
ORPHA:293381 |
Anterior Segment Dysgenesis 1 |
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Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
Limbal Stem Cell Deficiency |
|
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... |
ORPHA:171673 |
Autosomal Dominant Keratitis |
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Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
Immunodeficiency 23 |
|
Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia |
OMIM:615816 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T ce... |
OMIM:243700 |
Igg4-Related Aortitis |
|
Hypereosinophilia |
ORPHA:449400 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve... |
OMIM:102700 |
Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Eosinophilia |
ORPHA:2314 |
Cyclic Neutropenia |
|
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
Cystic Echinococcosis |
|
Splenic cyst, Peritoneal abscess, Eosinophilia, Abscess |
ORPHA:400 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... |
ORPHA:98974 |
Autoimmune Lymphoproliferative Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel... |
ORPHA:3261 |
Incontinentia Pigmenti |
|
Cataract, Eosinophilia, Keratitis, Corneal opacity |
ORPHA:464 |
Incontinentia Pigmenti |
|
Cataract, Eosinophilia, Keratitis, Leukocytosis |
OMIM:308300 |
Vernal Keratoconjunctivitis |
|
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... |
ORPHA:70476 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
Cataract 23, Multiple Types |
|
Lamellar cataract, Microcornea, Nuclear cataract |
OMIM:610425 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia |
ORPHA:183 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Eosinophilia, Macrocytic anemia |
ORPHA:199299 |
Alveolar Echinococcosis |
|
Cutaneous abscess, Eosinophilia, Abnormal spleen morphology, Anemia, Liver abscess |
ORPHA:284 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio... |
ORPHA:508533 |
Generalized Eruptive Keratoacanthoma |
|
Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca |
ORPHA:411777 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia |
OMIM:619632 |
Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
Idiopathic Hypereosinophilic Syndrome |
|
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... |
ORPHA:3260 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Corneal opacity, Anemia |
OMIM:274000 |
Iridocorneal Endothelial Syndrome |
|
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... |
ORPHA:64734 |
Igg4-Related Pachymeningitis |
|
Eosinophilia |
ORPHA:449427 |
Congenital Primary Aphakia |
|
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... |
ORPHA:83461 |
Coccidioidomycosis |
|
Abnormality of the spleen, Eosinophilia, Granuloma, Abscess |
ORPHA:228123 |
Lymphatic Filariasis |
|
Hypereosinophilia |
ORPHA:2035 |
Sarcoidosis |
|
Cataract, Leukopenia, Increased T cell count, Eosinophilia, Keratoconjunctivitis sicca, Thrombocy... |
ORPHA:797 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia |
ORPHA:449432 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Keratitis |
ORPHA:449563 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Keratitis, Microcytic anemia, Lymphopenia, Chroni... |
ORPHA:906 |
Igg4-Related Kidney Disease |
|
Eosinophilia |
ORPHA:449395 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess, Recurrent cutaneous abscess formation |
OMIM:147060 |
Tropical Endomyocardial Fibrosis |
|
Eosinophilia, Splenomegaly |
ORPHA:75565 |
Viss Syndrome |
|
Hypereosinophilia |
OMIM:619472 |
Cushing Disease |
|
Lymphopenia, Decreased eosinophil count, Leukocytosis |
ORPHA:96253 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Lymphopenia, Decreased eosinophil count, Leukocytosis |
ORPHA:99889 |
Dermatomyositis |
|
Abnormal eosinophil morphology |
ORPHA:221 |