Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Neutropenia, Lethal Congenital, With Eosinophilia |
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Eosinophilia, Neutropenia |
OMIM:257100 |
Eosinophilia, Familial |
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Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Ichthyosis-Prematurity Syndrome |
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Eosinophilia |
ORPHA:88621 |
Deafness, Autosomal Recessive 9 |
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Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Acute Myelomonocytic Leukemia |
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Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... |
OMIM:212050 |
Eosinophil Peroxidase Deficiency |
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Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Deafness, Autosomal Recessive 104 |
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Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Hypereosinophilic Syndrome, Idiopathic |
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Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
Juvenile Temporal Arteritis |
|
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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Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Eosinophilopenia |
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Decreased eosinophil count |
OMIM:131430 |
Chronic Myeloid Leukemia |
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Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Kimura Disease |
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Eosinophilia |
ORPHA:482 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
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Eosinophilia, Facial palsy, Elevated circulating creatine kinase concentration |
OMIM:253600 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
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Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Cinca Syndrome |
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Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H... |
OMIM:607115 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Congenital sensorineural hearing impairment, Pancytopenia, Elevated circulating creatinine concen... |
OMIM:617872 |
Immunodeficiency 32B |
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Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Esophagitis, Eosinophilic, 1 |
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Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
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Eosinophilia |
OMIM:613412 |
Immunodeficiency 97 With Autoinflammation |
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Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Autoimmune Lymphoproliferative Syndrome |
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Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:601859 |
Wells Syndrome |
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Eosinophilia |
ORPHA:901 |
Immunodeficiency 11B With Atopic Dermatitis |
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Eosinophilia |
OMIM:617638 |
Optic Atrophy 8 |
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Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
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Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Eosinophilic Fasciitis |
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Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Eosinophilic Gastroenteritis |
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Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Immunodeficiency 7 |
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Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia |
OMIM:615387 |
Autosomal Dominant Severe Congenital Neutropenia |
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Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
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Eosinophilia |
OMIM:618523 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... |
OMIM:613845 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
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Eosinophilia, Cutaneous abscess |
OMIM:147060 |
Omenn Syndrome |
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Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Immunodeficiency 49 |
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Impaired lymphocyte transformation with phytohemagglutinin, Posteriorly rotated ears, Eosinophili... |
OMIM:617237 |
Abcd Syndrome |
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Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... |
OMIM:600501 |
Peeling Skin Syndrome 1 |
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Eosinophilia |
OMIM:270300 |
Immunodeficiency 60 And Autoimmunity |
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Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Immunodeficiency 25 |
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T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
Drug-Induced Lupus Erythematosus |
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Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Idiopathic Acute Eosinophilic Pneumonia |
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Abnormal eosinophil morphology |
ORPHA:724 |
O'Sullivan-Mcleod Syndrome |
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Eosinophilia |
ORPHA:99965 |
Interstitial Nephritis, Karyomegalic |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
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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Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... |
OMIM:304790 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
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Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:2902 |
Roifman Syndrome |
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Splenomegaly, Eosinophilia |
OMIM:616651 |
Omenn Syndrome |
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Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia |
ORPHA:39041 |
Roifman Syndrome |
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Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Pgm3-Cdg |
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Hemolytic anemia, Mild neurosensory hearing impairment, Abnormal proportion of CD8-positive T cel... |
ORPHA:443811 |
Ravine Syndrome |
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Abnormal auditory evoked potentials |
ORPHA:99852 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
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Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Hereditary Folate Malabsorption |
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Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... |
OMIM:274150 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
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Sterile abscess, Eosinophilia, Cutaneous abscess |
OMIM:618282 |
Autoinflammation With Arthritis And Dyskeratosis |
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Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Elevated circulating C-reactive pro... |
OMIM:617388 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... |
OMIM:602450 |
Igg4-Related Aortitis |
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Hypereosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:449400 |
Immunodeficiency 23 |
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Hemolytic anemia, Eosinophilia, Abscess, Sensorineural hearing impairment, Neutropenia, Conductiv... |
OMIM:615816 |
Late-Onset Isolated Acth Deficiency |
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Hyponatremia, Normocytic anemia, Macrocytic anemia, Orthostatic hypotension, Hypercalcemia, Eosin... |
ORPHA:199299 |
Acute Generalized Exanthematous Pustulosis |
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Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Chronic Bilirubin Encephalopathy |
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Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... |
ORPHA:529799 |
Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Optic atrophy, Anemia, Increased blood urea nitrogen, Macrot... |
ORPHA:90321 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Cystic Echinococcosis |
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Eosinophilia, Abscess, Hyperbilirubinemia, Splenic cyst, Peritoneal abscess |
ORPHA:400 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Allergic Bronchopulmonary Aspergillosis |
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Abnormal eosinophil morphology |
ORPHA:1164 |
Orthostatic Hypotension 1 |
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Hypomagnesemia, Orthostatic hypotension, Increased blood urea nitrogen |
OMIM:223360 |
Netherton Syndrome |
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Hypereosinophilia |
OMIM:256500 |
Dopamine Beta-Hydroxylase Deficiency |
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Orthostatic hypotension, Elevated circulating creatinine concentration, Anemia, Increased blood u... |
ORPHA:230 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... |
OMIM:102700 |
46,Xy Sex Reversal 4 |
|
Sensorineural hearing impairment, Microtia, Elevated circulating creatinine concentration, Increa... |
OMIM:154230 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia, Elevated circulating C-reactive protei... |
OMIM:619632 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... |
ORPHA:3240 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia |
ORPHA:2314 |
Igg4-Related Pachymeningitis |
|
Abnormality of cervical plexus, Abnormality of the brachial nerve plexus, Eosinophilia, Elevated ... |
ORPHA:449427 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia, Hearing impairment |
OMIM:158310 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... |
ORPHA:52368 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia |
ORPHA:183 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Elevated circulating creatinine concentration, Increased blood urea nitr... |
OMIM:223900 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro... |
ORPHA:508533 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Abnormal spleen morphology, Anemia, Cutaneous abscess |
ORPHA:284 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Incontinentia Pigmenti |
|
Leukocytosis, Optic atrophy, Eosinophilia |
OMIM:308300 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... |
ORPHA:3260 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive... |
ORPHA:49041 |
Incontinentia Pigmenti |
|
Eosinophilia |
ORPHA:464 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Coccidioidomycosis |
|
Eosinophilia, Abscess, Abnormality of the spleen, Granuloma, Hearing impairment |
ORPHA:228123 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:274000 |
Igg4-Related Ophthalmic Disease |
|
Abnormal fifth cranial nerve morphology, Eosinophilia, Elevated circulating C-reactive protein co... |
ORPHA:449563 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Lymphatic Filariasis |
|
Hypereosinophilia |
ORPHA:2035 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Elevated circulating creatinine concentration, Decreased retinol-binding protein le... |
ORPHA:449395 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia |
ORPHA:449432 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
Sarcoidosis |
|
Hemolytic anemia, Hypercalcemia, Eosinophilia, Facial palsy, Thrombocytopenia, Increased T cell c... |
ORPHA:797 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... |
ORPHA:79330 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Hypoalbuminemia, Eosinophilia |
ORPHA:75565 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Lo... |
ORPHA:401973 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
Cockayne Syndrome A |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:216400 |
Cushing Disease |
|
Decreased eosinophil count, Leukocytosis, Lymphopenia, Optic nerve compression |
ORPHA:96253 |
Viss Syndrome |
|
Posteriorly rotated ears, Cupped ear, Hypereosinophilia, Low-set ears, Macrotia |
OMIM:619472 |
Goodpasture Syndrome |
|
Anemia, Increased blood urea nitrogen |
OMIM:233450 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Histiocytosis |
ORPHA:171 |
Dermatomyositis |
|
Abnormal eosinophil morphology |
ORPHA:221 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Decreased eosinophil count, Leukocytosis, Lymphopenia |
ORPHA:99889 |