Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors |
OMIM:618830 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608631 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Pachygyria, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Unsteady gait, Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Difficulty walking |
OMIM:253600 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... |
OMIM:226990 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:601859 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Immunodeficiency 7 |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia |
OMIM:615387 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... |
OMIM:304790 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
Cinca Syndrome |
|
Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly |
OMIM:607115 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia |
OMIM:618523 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly |
ORPHA:169160 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess |
OMIM:147060 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Essential Fructosuria |
|
Abnormal erythrocyte enzyme level, Hyperglycemia |
ORPHA:2056 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni... |
OMIM:159550 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Ataxia, Abnormal CD4... |
ORPHA:443811 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... |
OMIM:602450 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Omenn Syndrome |
|
Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia |
ORPHA:39041 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia |
ORPHA:2070 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Roifman Syndrome |
|
Splenomegaly, Eosinophilia |
OMIM:616651 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Roifman Syndrome |
|
Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop... |
ORPHA:444463 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Elevated hemoglobin A1c |
OMIM:618858 |
Immunodeficiency 23 |
|
Hemolytic anemia, Ataxia, Eosinophilia, Abscess, Neutropenia, Lymphopenia |
OMIM:615816 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Sterile abscess, Eosinophilia, Cutaneous abscess |
OMIM:618282 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes |
OMIM:610582 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Attention deficit hyperactivity disorder, Abnormal social behavior, Compuls... |
ORPHA:444002 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Ataxia, Neutropenia |
OMIM:616949 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia |
ORPHA:2902 |
Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Ataxia |
OMIM:618970 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c |
OMIM:606176 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... |
OMIM:619846 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... |
OMIM:102700 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Hypoglycemia, Eosinophilia, Type I diabetes mellitus, Lethargy |
ORPHA:199299 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abnormal soc... |
ORPHA:1020 |
Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia |
OMIM:617388 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Hsd10 Disease |
|
Short attention span, Abnormal social behavior, Dysphagia |
ORPHA:391417 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Igg4-Related Aortitis |
|
Hypereosinophilia |
ORPHA:449400 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
Cystic Echinococcosis |
|
Eosinophilia, Abscess, Peritoneal abscess, Splenic cyst |
ORPHA:400 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Inability to walk, Hypereosinophilia, T lymphocytop... |
ORPHA:508533 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Gait disturbance, Eosinophilia |
ORPHA:183 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Broad-based gait, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absen... |
OMIM:619705 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia |
ORPHA:2314 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Athetosis, Hyperglycemia, Glycosuria |
OMIM:618857 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Ataxia, Gait disturbance, Type II diabetes mellitus, Lymphopenia |
ORPHA:100 |
Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
Alveolar Echinococcosis |
|
Liver abscess, Ataxia, Eosinophilia, Abnormal spleen morphology, Anemia, Cutaneous abscess |
ORPHA:284 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph... |
OMIM:301078 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Lymphopenia, B lymphocytopenia |
ORPHA:277 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia |
OMIM:619632 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia |
OMIM:158310 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... |
ORPHA:3226 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Abnormal social behavior, Abnormal repetitive mannerisms, Abnormal temper tantrums |
ORPHA:530983 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... |
ORPHA:3260 |
Necrotizing Enterocolitis |
|
Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Lethargy, Hyperglycemia, Thrombocytopenia |
ORPHA:391673 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... |
OMIM:616005 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... |
OMIM:619767 |
Incontinentia Pigmenti |
|
Gait disturbance, Eosinophilia |
ORPHA:464 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Lymphangiectasia, Intestinal |
|
Lymphopenia |
OMIM:152800 |
Incontinentia Pigmenti |
|
Leukocytosis, Eosinophilia |
OMIM:308300 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Staphylococcal Necrotizing Pneumonia |
|
Diabetes mellitus, Neutrophilia, Leukocytosis, Leukopenia, Lethargy |
ORPHA:36238 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Dec... |
ORPHA:760 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
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Type I diabetes mellitus, Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
Idiopathic Aplastic Anemia |
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Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
ORPHA:88 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Thrombocytopenia-Absent Radius Syndrome |
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Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:274000 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
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Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
Igg4-Related Pachymeningitis |
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Eosinophilia |
ORPHA:449427 |
Coccidioidomycosis |
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Abnormality of the spleen, Eosinophilia, Granuloma, Abscess |
ORPHA:228123 |
Ataxia-Telangiectasia |
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Diabetes mellitus, Ataxia, Inability to walk, Acute lymphoblastic leukemia, T lymphocytopenia, Gl... |
OMIM:208900 |
Reni Syndrome |
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Lymphopenia, Hypoglycemia, Ataxia |
OMIM:617575 |
Relapsing Fever |
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Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
Immunodeficiency 110 With Lymphoproliferation |
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Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
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Lymphopenia |
ORPHA:1116 |
Lymphatic Filariasis |
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Hypereosinophilia |
ORPHA:2035 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenome... |
OMIM:613179 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Brain abscess, Neutrophilia, Liver abscess, Anemia |
ORPHA:54251 |
Igg4-Related Submandibular Gland Disease |
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Eosinophilia |
ORPHA:449432 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl... |
ORPHA:276 |
Insulin-Resistance Syndrome Type B |
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Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem... |
ORPHA:2298 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... |
OMIM:618935 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Broad-based gait, Diabetes mellitus, Ataxia, Insulin resistance, Dysmetria, Dysdiadochokinesis, G... |
OMIM:616541 |
Metachromatic Leukodystrophy, Adult Form |
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Short attention span, Progressive psychomotor deterioration, Emotional lability, Depression, Deme... |
ORPHA:309271 |
Psoriasis 14, Pustular |
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Leukocytosis, Neutrophilia |
OMIM:614204 |
Immunodeficiency 55 |
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Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Icf Syndrome |
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Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Ebola Hemorrhagic Fever |
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Leukopenia, Lymphopenia, Lethargy, Thrombocytopenia |
ORPHA:319218 |
Wiskott-Aldrich Syndrome |
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Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Cryptogenic Organizing Pneumonia |
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Leukocytosis, Neutrophilia |
ORPHA:1302 |
48,Xxxy Syndrome |
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Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres... |
ORPHA:96263 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... |
OMIM:600802 |
Sarcoidosis |
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Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:797 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Aplastic anemia, Ataxia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypoc... |
OMIM:127550 |
Metachromatic Leukodystrophy, Juvenile Form |
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Emotional lability, Abnormal social behavior, Progressive psychomotor deterioration, Short attent... |
ORPHA:309263 |
Adult-Onset Still Disease |
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Splenomegaly, Leukocytosis, Neutrophilia, Bone marrow hypocellularity |
ORPHA:829 |
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 |
Igg4-Related Ophthalmic Disease |
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Eosinophilia |
ORPHA:449563 |
Acute Radiation Syndrome |
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Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
Herpes Simplex Virus Encephalitis |
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Leukocytosis, Neutrophilia |
ORPHA:1930 |
Cushing Disease |
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Diabetes mellitus, Impaired glucose tolerance, Leukocytosis, Decreased eosinophil count, Lymphopenia |
ORPHA:96253 |
Igg4-Related Kidney Disease |
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Eosinophilia |
ORPHA:449395 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Pancytopenia, Ataxia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Leukopenia, Bone marrow hyp... |
OMIM:615688 |
Fg Syndrome Type 1 |
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Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors |
ORPHA:93932 |
Pneumocystosis |
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Abnormal neutrophil count |
ORPHA:723 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Prader-Willi Syndrome Due To Translocation |
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Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... |
ORPHA:177907 |
Tropical Endomyocardial Fibrosis |
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Splenomegaly, Eosinophilia |
ORPHA:75565 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Splenomegaly, Neutrophilia, Abscess |
OMIM:612852 |
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 |
Niemann-Pick Disease Type C |
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Progressive neurologic deterioration, Aggressive behavior, Mental deterioration, Depression, Deme... |
ORPHA:646 |
Sweet Syndrome |
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Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... |
ORPHA:3243 |
Whim Syndrome |
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Lymphopenia, Abnormal neutrophil morphology, Limb ataxia, Neutropenia |
ORPHA:51636 |
Primary Sclerosing Cholangitis |
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Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Type I diabetes mellitus, Histi... |
ORPHA:171 |
Tuberous Sclerosis Complex |
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Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... |
ORPHA:805 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Memory impairment, Abnormal social behavior, Abnormal cortical gyration, Aggressive behavior |
ORPHA:314647 |
Viss Syndrome |
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Hypereosinophilia |
OMIM:619472 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Emotional lability, Abnormal social behavior |
ORPHA:309256 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Diabetes mellitus, Impaired glucose tolerance, Leukocytosis, Decreased eosinophil count, Lymphopenia |
ORPHA:99889 |
Hyper-Igd Syndrome |
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Splenomegaly, Leukocytosis, Neutrophilia, Hepatosplenomegaly |
OMIM:260920 |
Mend Syndrome |
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Hyperactivity, Abnormal social behavior, Aggressive behavior |
ORPHA:401973 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior |
ORPHA:1675 |
Dermatomyositis |
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Abnormal eosinophil morphology |
ORPHA:221 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... |
ORPHA:363958 |
Williams Syndrome |
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Depression, Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal social behav... |
ORPHA:904 |