| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
| Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
| Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
| Maturity-Onset Diabetes Of The Young, Type 4 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
| Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:610508 |
| Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
| Type 1 Diabetes Mellitus 2 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:125852 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
| Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
| Maturity-Onset Diabetes Of The Young, Type 1 |
|
Maturity-onset diabetes of the young |
OMIM:125850 |
| Pancreas, Dorsal, Agenesis Of |
|
Diabetes mellitus |
OMIM:167755 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
| Specific Granule Deficiency 1 |
|
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... |
OMIM:245480 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis |
OMIM:613370 |
| Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
| Wolfram-Like Syndrome, Autosomal Dominant |
|
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance |
OMIM:614296 |
| Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... |
OMIM:202700 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:613501 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... |
OMIM:615285 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... |
OMIM:606843 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613375 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia, Glucose intolerance |
OMIM:147630 |
| Transcobalamin Deficiency |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... |
ORPHA:859 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:613502 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... |
OMIM:614470 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Immunodeficiency 46 |
|
Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia, Anemia |
OMIM:616740 |
| Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia |
OMIM:193670 |
| Trimethylaminuria |
|
Neutropenia, Anemia, Splenomegaly |
OMIM:602079 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Specific Granule Deficiency 2 |
|
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia |
OMIM:617475 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... |
OMIM:308240 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... |
OMIM:619041 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Neutropenia, Anemia |
OMIM:614082 |
| Adult Idiopathic Neutropenia |
|
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia |
ORPHA:2688 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... |
ORPHA:75564 |
| Immunodeficiency 21 |
|
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... |
OMIM:614172 |
| Aregenerative Anemia |
|
Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ... |
ORPHA:101096 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
| Refractory Anemia |
|
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... |
ORPHA:98826 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... |
OMIM:608203 |
| Immunodeficiency 67 |
|
Transient neutropenia, Increased circulating IgE level, Liver abscess |
OMIM:607676 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... |
OMIM:619220 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia |
ORPHA:231401 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Agammaglobulinemia, Neutropenia, B lymphocytopenia |
OMIM:601495 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... |
ORPHA:169154 |
| 3-Methylglutaconic Aciduria, Type Vii |
|
Neutropenia |
OMIM:616271 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... |
OMIM:618986 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
OMIM:251190 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... |
OMIM:159550 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:603552 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Neutropenia |
OMIM:600351 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, Thrombocytosis, Leukocytosis, Neutrophilia, B lymphocytopenia, Decreased circulating... |
OMIM:619281 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Increased serum interferon-gamma level, Decreased circulating antibody level, A... |
ORPHA:540 |
| Thrombocytopenia 5 |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:616216 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Autoimmune Lymphoproliferative Syndrome |
|
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... |
OMIM:601859 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... |
OMIM:300835 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... |
OMIM:607594 |
| Immunodeficiency 55 |
|
Neutropenia |
OMIM:617827 |
| Lichtenstein Syndrome |
|
Decreased circulating IgA level, Neutropenia |
OMIM:246550 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Thrombocytopenia, Chronic neutropenia |
OMIM:619301 |
| Transcobalamin Ii Deficiency |
|
Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat... |
OMIM:275350 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... |
OMIM:308230 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia |
OMIM:612527 |
| Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
| Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... |
OMIM:619374 |
| Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... |
OMIM:150550 |
| Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Granuloma |
ORPHA:542592 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic anem... |
ORPHA:572 |
| Fanconi Anemia, Complementation Group V |
|
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
OMIM:617243 |
| Hemochromatosis, Type 3 |
|
Lymphopenia, Neutropenia, Anemia |
OMIM:604250 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... |
OMIM:618849 |
| Barth Syndrome |
|
Granulocytopenia, Neutropenia |
OMIM:302060 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, N... |
OMIM:304790 |
| Folate Malabsorption, Hereditary |
|
Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia, Leukopenia |
OMIM:229050 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia |
OMIM:616738 |
| Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6, Abnormal serum interleukin level, Abnormality of tumor necro... |
ORPHA:70578 |
| Developmental And Epileptic Encephalopathy 66 |
|
Neutropenia, Anemia |
OMIM:618067 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules |
ORPHA:238459 |
| Idiopathic Aplastic Anemia |
|
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Bone marrow hypocellularity |
ORPHA:88 |
| Acute Lung Injury |
|
Increased circulating interleukin 6, Abnormality of serum cytokine level, Abnormality of tumor ne... |
ORPHA:178320 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Leukocytosis, Increased circulating interleukin 6, Thrombocytopenia, Abnormalit... |
ORPHA:544482 |
| Aggressive Systemic Mastocytosis |
|
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... |
ORPHA:98850 |
| Sweet Syndrome |
|
Abnormal serum interleukin level, Leukocytosis, Chronic lymphatic leukemia, Abnormality of tumor ... |
ORPHA:3243 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,... |
OMIM:169400 |
| Indolent Systemic Mastocytosis |
|
Increased proportion of CD25+ mast cells, Abnormal mast cell morphology, Mastocytosis, Splenomegaly |
ORPHA:98848 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
| Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
| Pgm3-Cdg |
|
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Increased circulating IgE level, He... |
ORPHA:443811 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... |
OMIM:603909 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
| Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Neutropenia, Anemia, Anemia of inadequate production |
OMIM:614900 |
| Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Decreased circulating IgG level, Neutropenia |
OMIM:608809 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... |
ORPHA:486 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Thrombocytopenia, Neutropenia, Anemia, Splenomegaly |
ORPHA:79312 |
| X-Linked Agammaglobulinemia |
|
Neutropenia, Thrombocytopenia, Recurrent cutaneous abscess formation, Agammaglobulinemia, Anemia |
ORPHA:47 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... |
OMIM:214500 |
| Schimke Immunoosseous Dysplasia |
|
Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Anemia, Abnormal immunogl... |
OMIM:242900 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia, Agammaglobulinemia |
OMIM:209920 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Neutropenia, Anemia |
OMIM:617056 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Neutropenia, Microcytic anemia |
OMIM:251900 |
| Autosomal Agammaglobulinemia |
|
Agammaglobulinemia, Neutropenia |
ORPHA:33110 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Spontaneous hemolytic... |
OMIM:613470 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia, Macrothrombocytopenia |
OMIM:603585 |
| Griscelli Syndrome Type 2 |
|
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly |
ORPHA:79477 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:231154 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... |
OMIM:614700 |
| Retinal Venous Beading |
|
Neutropenia |
OMIM:180080 |
| Poikiloderma With Neutropenia |
|
Neutropenia, Splenomegaly |
OMIM:604173 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:614857 |
| Immunodeficiency 23 |
|
Increased circulating IgM level, Increased circulating IgE level, Hemolytic anemia, Lymphopenia, ... |
OMIM:615816 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Lymphopenia, Impaired oxidative burst, Granuloma, Perianal abscess, Splenomegal... |
OMIM:618935 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Anemia, Splenomegaly |
ORPHA:398124 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... |
OMIM:612541 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Chédiak-Higashi Syndrome |
|
Increased proportion of CD25+ mast cells, Hemophagocytosis, Vacuolated lymphocytes, Abnormal natu... |
ORPHA:167 |
| Congenital Enterovirus Infection |
|
Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia, Leukopenia |
ORPHA:292 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Increased circulating IgM level, Neutropenia, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia,... |
OMIM:617303 |
| Aspergillosis |
|
Increased circulating IgE level, Neutropenia, Eosinophilia |
ORPHA:1163 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Anemia |
OMIM:246400 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
OMIM:614520 |
| Sepsis In Premature Infants |
|
Leukocytosis, Neutropenia, Increased circulating interleukin 6, Thrombocytopenia, Anemia, Splenom... |
ORPHA:90051 |
| Felty Syndrome |
|
Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly, Bone marrow ... |
ORPHA:47612 |
| Propionic Acidemia |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:606054 |
| Cohen Syndrome |
|
Neutropenia, Leukopenia |
OMIM:216550 |
| Cyclic Neutropenia |
|
Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, Perianal abscess, Cycli... |
ORPHA:2686 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, N... |
OMIM:615952 |
| Acute Promyelocytic Leukemia |
|
Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
ORPHA:520 |
| Methylcobalamin Deficiency Type Cble |
|
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
ORPHA:2169 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... |
ORPHA:1830 |
| Hermansky-Pudlak Syndrome 2 |
|
Impaired ADP-induced platelet aggregation, Neutropenia, Thrombocytopenia, Reduced natural killer ... |
OMIM:608233 |
| Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Neutropenia, Impaired neutrophil chemotaxis, Normocytic anemia, Pancytopenia... |
ORPHA:811 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251110 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... |
ORPHA:98849 |
| X-Linked Lymphoproliferative Disease |
|
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Increased proportion of CD25+... |
ORPHA:2442 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Congenital hypoplastic a... |
OMIM:250250 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Megaloblastic anemia |
OMIM:277380 |
| Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251100 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... |
ORPHA:508542 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
| Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Neutropenia |
OMIM:609053 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... |
ORPHA:3261 |
| Necrotizing Enterocolitis |
|
Thrombocytopenia, Neutropenia, Leukocytosis |
ORPHA:391673 |
| Whim Syndrome |
|
Decreased circulating antibody level, Lymphopenia, Abnormality of neutrophil morphology, Neutropenia |
ORPHA:51636 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,... |
OMIM:260400 |
| Fanconi Anemia, Complementation Group E |
|
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia |
OMIM:600901 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... |
ORPHA:37042 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Abnormal neutrophil count, Splenomeg... |
ORPHA:3226 |
| Fanconi Anemia, Complementation Group A |
|
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia |
OMIM:227650 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgM level, Leukocytosis, Increased proportion of CD4-positive T cells, Incr... |
OMIM:617099 |
| Fanconi Anemia, Complementation Group C |
|
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia, Bone marrow hyp... |
OMIM:227645 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
| Hermansky-Pudlak Syndrome 10 |
|
Neutropenia, Splenomegaly |
OMIM:617050 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Neutropenia |
OMIM:615471 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Granulomatosis |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Granulomatosis |
OMIM:233710 |
| Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Neutropenia |
ORPHA:1667 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Granulomatosis |
OMIM:233690 |
| Granulomatous Disease, Chronic, X-Linked |
|
Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Granulomatosis |
OMIM:306400 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Neutropenia |
ORPHA:79284 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neu... |
OMIM:613179 |
| Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Panhypogammaglobulinemia, Neutropenia, Anemia |
ORPHA:33364 |
| Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
| Shwachman-Diamond Syndrome 2 |
|
Thrombocytopenia, Neutropenia, Normocytic anemia |
OMIM:617941 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
T lymphocytopenia, Lymphopenia, Neutropenia, Autoimmune thrombocytopenia |
OMIM:607944 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Thrombocytopenia, Neutropenia, Megaloblastic anemia |
OMIM:277400 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
| Pneumocystosis |
|
Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
| Fusariosis |
|
Lung abscess, Lymphopenia, Granuloma, Neutropenia, Abnormality of the spleen, Brain abscess |
ORPHA:228119 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6, Abnormality of serum cytokine level, Increased serum interfe... |
ORPHA:542323 |
| Blackfan-Diamond Anemia |
|
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... |
ORPHA:124 |
| Fanconi Anemia, Complementation Group D2 |
|
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia, Bone marrow hyp... |
OMIM:227646 |
| Cartilage-Hair Hypoplasia |
|
Decreased circulating antibody level, Neutropenia, Anemia |
ORPHA:175 |
| Leigh Syndrome |
|
Neutropenia, Anemia |
ORPHA:506 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Hypoplasia of th... |
ORPHA:906 |
| Selective Igm Deficiency |
|
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Dec... |
ORPHA:331235 |
| Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
| Kasabach-Merritt Syndrome |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Neutropenia, Thrombocytopenia, Anemia, Leukop... |
ORPHA:2330 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Abnormal serum interferon-... |
ORPHA:391487 |
| Rothmund-Thomson Syndrome |
|
Aplastic anemia, Neutropenia, Anemia, Leukemia |
ORPHA:2909 |
| Leukocyte Adhesion Deficiency |
|
Impaired platelet aggregation, Thrombocytosis, Leukocytosis, Polycythemia, Impaired neutrophil ch... |
ORPHA:2968 |
| Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Acute myeloid leukemia, Neutropenia, Anemia |
OMIM:601347 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Brain abscess, Liver abscess, Anemia |
ORPHA:54251 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Neutropenia, Anemia, Leukemia |
ORPHA:221008 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Thrombocytopenia, Neutropenia, Megaloblastic anemia |
ORPHA:79282 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
| Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Neutropenia, Anemia |
ORPHA:537 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Neutropenia, Anemia, Leukemia |
ORPHA:221016 |
| Pediatric-Onset Graves Disease |
|
Thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly |
ORPHA:525731 |
| Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase level, Thrombocytosis, Congenital hypoplastic anemia, Neutr... |
OMIM:105650 |
| Glycogen Storage Disease Ib |
|
Neutropenia |
OMIM:232220 |
| Hermansky-Pudlak Syndrome |
|
Neutropenia |
ORPHA:79430 |
| Relapsing Fever |
|
Leukocytosis, Thrombocytopenia, Anemia, Leukopenia, Neutrophilia |
ORPHA:91547 |
| Pearson Syndrome |
|
Reticulocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, Hypoplastic s... |
ORPHA:699 |
| Mastocytosis |
|
Acute leukemia, Chronic leukemia, Mastocytosis, Splenomegaly |
ORPHA:98292 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neutropenia |
ORPHA:163956 |
| Adult-Onset Still Disease |
|
Neutrophilia, Leukocytosis, Bone marrow hypocellularity, Splenomegaly |
ORPHA:829 |
| Hyper-Igd Syndrome |
|
Leukocytosis, Splenomegaly, Increased circulating IgA level, Neutrophilia, Hepatosplenomegaly, In... |
OMIM:260920 |
| Psoriasis 14, Pustular |
|
Neutrophilia, Leukocytosis |
OMIM:614204 |
| Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Leukocytosis |
ORPHA:1930 |
| Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Leukocytosis |
ORPHA:1302 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Hypersple... |
ORPHA:228426 |
| Say-Barber-Miller Syndrome |
|
Decreased circulating antibody level, Impaired neutrophil chemotaxis, Abnormal T cell morphology,... |
ORPHA:3132 |
| Kikuchi-Fujimoto Disease |
|
Lymphocytosis, Neutropenia, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia |
ORPHA:50918 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Chronic neutropenia |
ORPHA:500095 |
| Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Leukopenia, Leukocytosis |
ORPHA:36238 |
| Hennekam-Beemer Syndrome |
|
Mastocytosis |
ORPHA:2135 |
| Parenteral Nutrition-Associated Cholestasis |
|
Abnormality of cytokine secretion, Splenomegaly |
ORPHA:567983 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal myeloid leukocyte morphology, Chronic neutropenia, Anemia |
ORPHA:79259 |
| Sponastrime Dysplasia |
|
Decreased circulating antibody level, Neutropenia |
ORPHA:93357 |
| Zygomycosis |
|
Splenic abscess, Brain abscess, Neutropenia |
ORPHA:73263 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Neutrophilia, Abscess, Splenomegaly |
OMIM:612852 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Abnormal isohemagglutinin level, Microcytic anemia, Leukocytosis, Anemia, Neutrophilia |
ORPHA:99843 |
| Japanese Encephalitis |
|
Neutrophilia, Increased circulating antibody level, Increased circulating IgM level |
ORPHA:79139 |
| Aspartylglucosaminuria |
|
Neutropenia, Vacuolated lymphocytes |
OMIM:208400 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Neutropenia, Anemia |
ORPHA:95455 |
| Idiopathic Hypereosinophilic Syndrome |
|
Thrombocytosis, Leukocytosis, Thrombocytopenia, Anemia, Splenomegaly, Neutrophilia, Hepatosplenom... |
ORPHA:3260 |
| Familial Mediterranean Fever |
|
Neutrophilia, Splenomegaly, Leukocytosis |
OMIM:249100 |
| Pmm2-Cdg |
|
Impaired neutrophil chemotaxis |
ORPHA:79318 |
