| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Maturity-onset diabetes of the young |
OMIM:616329 |
| Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
| Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
| Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
| Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
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 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
| Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
| 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 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:619549 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Immunodeficiency 50 |
|
Neutropenia, Lymphopenia, Decreased circulating antibody level |
OMIM:300988 |
| Specific Granule Deficiency 1 |
|
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... |
OMIM:245480 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
| Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... |
OMIM:202700 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... |
OMIM:606843 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Agammaglobulinemia, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
| Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Pancytopenia, Lymphopenia,... |
ORPHA:859 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Absent circulating B cell... |
OMIM:613501 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Decreased circulating I... |
OMIM:613502 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga... |
OMIM:619707 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Increased circulating antibody level, Extramedullary hematopoiesis, Thrombocy... |
OMIM:615285 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Pancytopenia... |
OMIM:614470 |
| Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level |
OMIM:616740 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
| Whim Syndrome 1 |
|
Decreased circulating antibody level, Neutropenia, Decreased circulating IgG level |
OMIM:193670 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
| Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Immunodeficiency 32B |
|
Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxida... |
OMIM:226990 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos... |
ORPHA:2688 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... |
OMIM:619041 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
| Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Increased circulating interleukin 6 concentration, Ab... |
ORPHA:158061 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
| Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, Decreased circulating total IgM, B lymphoc... |
OMIM:301082 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Reduced natural killer cell activity, Decreased circulating antibody level, Lymphocytosis, Pancyt... |
OMIM:308240 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... |
ORPHA:98826 |
| Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating total IgM, B lymphocytopenia, Absent circulating B cells, Agammaglobulinemi... |
OMIM:619705 |
| X-Linked Severe Congenital Neutropenia |
|
Neutropenia, Monocytopenia |
ORPHA:86788 |
| Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
| Glutathione Synthetase Deficiency |
|
Neutropenia, Hemolytic anemia |
OMIM:266130 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
| Immunodeficiency 67 |
|
Liver abscess, Increased circulating IgE level, Transient neutropenia |
OMIM:607676 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Increased circulating antibody level, Lymphocytosis, Decreased proportion of C... |
ORPHA:169154 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... |
OMIM:618986 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ... |
ORPHA:158057 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... |
OMIM:159550 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:603552 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Reduced natural killer cell activity, B lymphocytopenia, Neutrop... |
OMIM:619281 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Neutropenia, Acute lymphoblastic leukemia |
OMIM:610738 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, ... |
ORPHA:540 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Hemophagocytosis, Bone marrow hypocellularity, Th... |
OMIM:301078 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Decreased circulating total IgM, Cutaneous abscess, Lymphopeni... |
OMIM:619752 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased... |
OMIM:601859 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Hepatos... |
OMIM:301081 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... |
OMIM:607594 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
| Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomega... |
OMIM:150550 |
| Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
| Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia |
OMIM:598500 |
| Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... |
OMIM:619374 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia |
OMIM:612527 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... |
OMIM:300835 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Panhypogammaglobulinemia, T lymphocytopenia, Lack of T cell function, Decreased circulating antib... |
ORPHA:572 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia |
OMIM:617243 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... |
OMIM:618849 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Abnormal circulating IgM level, Decreased T cell activation, Hemolytic anemia, Decreased circulat... |
OMIM:308230 |
| Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Decreased circulating total IgM, Monocytopenia, Decreased prop... |
OMIM:619802 |
| Hemochromatosis, Type 3 |
|
Anemia, Neutropenia, Lymphopenia |
OMIM:604250 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Reticulocytopenia, Erythroid hypoplasia, Pancytopenia, Decreased... |
OMIM:275350 |
| Adult Acute Respiratory Distress Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
| Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:178320 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop... |
OMIM:304790 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets |
ORPHA:238459 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Hemolytic anemia, Abnormality of chemokine secretion, Increased circulating interl... |
ORPHA:544482 |
| Aggressive Systemic Mastocytosis |
|
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD25+ mast cells... |
ORPHA:98850 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
| Specific Granule Deficiency 2 |
|
Thrombocytopenia, Neutropenia, Absent neutrophil specific granules, Anemia |
OMIM:617475 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Increased circulatin... |
ORPHA:3243 |
| Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... |
OMIM:169400 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... |
ORPHA:486 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Abnormal cytokin... |
ORPHA:158048 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:603909 |
| Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... |
ORPHA:443811 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Abnormal mast cell morphology, Splenomegaly, Increased proportion of CD25+ mast cells |
ORPHA:98848 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Thrombocytopenia, Neutropenia, Splenomegaly, Anemia |
ORPHA:79312 |
| Idiopathic Aplastic Anemia |
|
Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
ORPHA:88 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Panhypogammaglobulinemia, Neutropenia, B lymphocytopenia, Decreased circulating antibody level, R... |
OMIM:601495 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Splenomegaly, Impaired neutrophil ... |
OMIM:613470 |
| Diamond-Blackfan Anemia 11 |
|
Anemia, Anemia of inadequate production, Bone marrow hypocellularity, Neutropenia |
OMIM:614900 |
| X-Linked Agammaglobulinemia |
|
Anemia, Recurrent cutaneous abscess formation, Agammaglobulinemia, Thrombocytopenia, Neutropenia |
ORPHA:47 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Neutropenia, Splenomegaly |
OMIM:615387 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia |
OMIM:603585 |
| Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Giant neutrophil granules, Hemophagocytosis, Impaired neutrophil bactericidal... |
OMIM:214500 |
| Autosomal Agammaglobulinemia |
|
Agammaglobulinemia, Neutropenia |
ORPHA:33110 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Cutaneous anergy, Agammaglobulinemia, Neutropenia, Panhypogammaglobulinemia |
OMIM:209920 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
| Griscelli Syndrome Type 2 |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Pancytopenia |
ORPHA:79477 |
| Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... |
ORPHA:35858 |
| Trichothiodystrophy 3, Photosensitive |
|
Neutropenia, Increased circulating IgA level, Lymphopenia |
OMIM:616395 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
| Immunodeficiency 108 With Autoinflammation |
|
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei |
OMIM:260570 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, Decreased circulating total IgM, B lymphocytopenia, Decreased specific antib... |
OMIM:614700 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Increased circulating IgG level, Lymphopenia, Increased circulating IgM level, ... |
OMIM:615816 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Perianal abscess, Hemolytic anemia, Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidativ... |
OMIM:618935 |
| Schimke Immunoosseous Dysplasia |
|
Anemia, Abnormal T cell morphology, Decreased circulating antibody level, Pancytopenia, Lymphopen... |
OMIM:242900 |
| Neonatal Lupus Erythematosus |
|
Anemia, Neutropenia, Hemolytic anemia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Splenomegaly |
ORPHA:398124 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
| Aspergillosis |
|
Neutropenia, Increased circulating IgE level, Eosinophilia |
ORPHA:1163 |
| Propionic Acidemia |
|
Anemia, Thrombocytopenia, Neutropenia, Pancytopenia |
OMIM:606054 |
| Chédiak-Higashi Syndrome |
|
Anemia, Neutropenia, Abnormal platelet function, Pancytopenia, Hepatosplenomegaly, Hemophagocytos... |
ORPHA:167 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Neutropenia, Normochromic anemia |
OMIM:614857 |
| Congenital Enterovirus Infection |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:292 |
| Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Anemia, Neutropenia, Hepatosplenomegaly |
OMIM:246400 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia |
OMIM:614520 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Bone marrow hypocellularity, Increased circulating IgM level, Thrombocytopeni... |
OMIM:617303 |
| Sepsis In Premature Infants |
|
Anemia, Increased circulating interleukin 6 concentration, Leukocytosis, Thrombocytopenia, Neutro... |
ORPHA:90051 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
| Felty Syndrome |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Splenomegaly, Abnormal lympho... |
ORPHA:47612 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:251000 |
| Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
| Barth Syndrome |
|
Hypochromic microcytic anemia, Neutropenia, Cyclic neutropenia, Granulocytopenia |
OMIM:302060 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Neutropenia |
OMIM:618253 |
| Cyclic Neutropenia |
|
Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... |
ORPHA:2686 |
| Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
| Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Pancytopenia, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:520 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Pancytopenia |
ORPHA:2169 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Decreased circulating antibody level, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
OMIM:615952 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Aplastic anemia, Neutrop... |
OMIM:613989 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
| Schimke Immuno-Osseous Dysplasia |
|
Anemia, Lymphopenia, Impaired T cell function, Bone marrow hypocellularity, Decreased proportion ... |
ORPHA:1830 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
| Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Impaired neutrophil... |
ORPHA:811 |
| X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Aplas... |
ORPHA:2442 |
| Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Neutropenia, Infection associated neutropenia, Bone marrow hypocellularity |
ORPHA:445038 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Red... |
OMIM:608233 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
| Evans Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, Autoimmune thr... |
ORPHA:1959 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Bone marrow hypocellularit... |
ORPHA:508542 |
| Methylmalonic Aciduria, Cblb Type |
|
Anemia, Thrombocytopenia, Neutropenia, Pancytopenia |
OMIM:251110 |
| Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Reticulocytosis, Bone marrow hypocellularity, Eosinophilia, Dec... |
ORPHA:3261 |
| Fanconi Anemia, Complementation Group I |
|
Neutropenia, Bone marrow hypocellularity |
OMIM:609053 |
| Necrotizing Enterocolitis |
|
Thrombocytopenia, Neutropenia, Leukocytosis |
ORPHA:391673 |
| Vici Syndrome |
|
Leukopenia, Decreased T cell activation, T lymphocytopenia, Decreased circulating IgG2 level, Lym... |
OMIM:242840 |
| Methylmalonic Aciduria, Cbla Type |
|
Anemia, Thrombocytopenia, Neutropenia, Pancytopenia |
OMIM:251100 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Anemia, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:277380 |
| Cartilage-Hair Hypoplasia |
|
Anemia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemi... |
OMIM:250250 |
| Whim Syndrome |
|
Neutropenia, Lymphopenia, Abnormality of neutrophil morphology, Decreased circulating antibody level |
ORPHA:51636 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:600901 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in p... |
ORPHA:37042 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen... |
OMIM:612541 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:616271 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproliferative disorder... |
ORPHA:3226 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
| Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Neutropenia |
ORPHA:1667 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:227650 |
| Immunodeficiency 55 |
|
Neutropenia, Absent natural killer cells, Lymphopenia |
OMIM:617827 |
| Poikiloderma With Neutropenia |
|
Leukopenia, Neutropenia, Splenomegaly |
OMIM:604173 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Liver abscess, Granulomatosis, Rectal abscess, Impaired oxidative burst, Splenomegaly |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Liver abscess, Granulomatosis, Rectal abscess, Impaired oxidative burst, Splenomegaly |
OMIM:233710 |
| Fanconi Anemia, Complementation Group C |
|
Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropen... |
OMIM:227645 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Neutropenia, Microcytic anemia |
OMIM:251900 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Liver abscess, Granulomatosis, Rectal abscess, Impaired oxidative burst, Splenomegaly |
OMIM:233690 |
| Hermansky-Pudlak Syndrome 10 |
|
Neutropenia, Splenomegaly |
OMIM:617050 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Neutropenia |
OMIM:615471 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interferon-gamma concentration, Increased circulating interleukin 6 concent... |
ORPHA:542323 |
| Kasabach-Merritt Syndrome |
|
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop... |
ORPHA:2330 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Neutropenia, Megaloblastic anemia |
ORPHA:79284 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Abnormality of B cel... |
OMIM:613179 |
| Wiskott-Aldrich Syndrome |
|
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph... |
ORPHA:906 |
| Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia, Panhypogammaglobulinemia |
ORPHA:33364 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Neutropenia, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:607944 |
| Pearson Marrow-Pancreas Syndrome |
|
Anemia, Reticulocytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Pancytopenia, T... |
OMIM:557000 |
| Pneumocystosis |
|
Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
| Fusariosis |
|
Brain abscess, Granuloma, Lung abscess, Lymphopenia, Abnormality of the spleen, Neutropenia |
ORPHA:228119 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
| Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Granuloma, Granulomatosis, Rectal abscess, Impaired oxidative burst, Splenomegaly |
OMIM:306400 |
| Selective Igm Deficiency |
|
Decreased circulating IgG level, Decreased circulating total IgM, Neutropenia in presence of anti... |
ORPHA:331235 |
| Leigh Syndrome |
|
Anemia, Neutropenia |
ORPHA:506 |
| Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia, Decreased circulating IgG level |
OMIM:271510 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropen... |
OMIM:227646 |
| Cartilage-Hair Hypoplasia |
|
Anemia, Neutropenia, Decreased circulating antibody level |
ORPHA:175 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
| Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Thrombocytopenia, Neutropenia, Megaloblastic anemia |
OMIM:277400 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph... |
ORPHA:391487 |
| Relapsing Fever |
|
Leukopenia, Anemia, Neutrophilia, Leukocytosis, Thrombocytopenia |
ORPHA:91547 |
| Khan-Khan-Katsanis Syndrome |
|
Anemia, Neutropenia, Lymphopenia |
OMIM:618460 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Impaired neutrophil chemotaxis, Polycythemia, Impaired ... |
ORPHA:2968 |
| Rothmund-Thomson Syndrome |
|
Aplastic anemia, Neutropenia, Leukemia, Anemia |
ORPHA:2909 |
| Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Neutropenia, Anemia |
ORPHA:537 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Neutropenia, Leukemia, Anemia |
ORPHA:221008 |
| Diamond-Blackfan Anemia 1 |
|
Reticulocytopenia, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red cell adenosine dea... |
OMIM:105650 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Anemia, Brain abscess, Neutrophilia |
ORPHA:54251 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Thrombocytopenia, Neutropenia, Megaloblastic anemia |
ORPHA:79282 |
| Glycogen Storage Disease Ib |
|
Neutropenia, Splenomegaly |
OMIM:232220 |
| Pediatric-Onset Graves Disease |
|
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly |
ORPHA:525731 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Neutropenia, Leukemia, Anemia |
ORPHA:221016 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Neutropenia |
OMIM:617799 |
| Mastocytosis |
|
Mastocytosis, Acute leukemia, Splenomegaly, Chronic leukemia |
ORPHA:98292 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
| Pearson Syndrome |
|
Anemia, Reticulocytosis, Pancytopenia, Hypoplastic spleen, Bone marrow hypocellularity, Thrombocy... |
ORPHA:699 |
| Hermansky-Pudlak Syndrome |
|
Neutropenia |
ORPHA:79430 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neutropenia |
ORPHA:163956 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgD level, Hepatosplenomegaly, Increased circulating IgA leve... |
OMIM:260920 |
| Psoriasis 14, Pustular |
|
Neutrophilia, Leukocytosis |
OMIM:614204 |
| Kikuchi-Fujimoto Disease |
|
Leukopenia, Anemia, Lymphocytosis, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:50918 |
| Say-Barber-Miller Syndrome |
|
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating antibody level... |
ORPHA:3132 |
| Zygomycosis |
|
Brain abscess, Neutropenia, Splenic abscess |
ORPHA:73263 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Hypersplenism, Pancytopenia, Hepatosplenome... |
ORPHA:228426 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Anemia, Abnormal myeloid leukocyte morphology |
ORPHA:79259 |
| Hennekam-Beemer Syndrome |
|
Mastocytosis |
ORPHA:2135 |
| Parenteral Nutrition-Associated Cholestasis |
|
Abnormality of cytokine secretion, Splenomegaly |
ORPHA:567983 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Chronic neutropenia, Transient neutropenia |
ORPHA:500095 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
| Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia |
OMIM:617107 |
| Sponastrime Dysplasia |
|
Neutropenia, Decreased circulating antibody level |
ORPHA:93357 |
| Glycogen Storage Disease Ic |
|
Cyclic neutropenia |
OMIM:232240 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Neutropenia |
ORPHA:95455 |
| Yellow Fever |
|
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat... |
ORPHA:99829 |
| Aspartylglucosaminuria |
|
Neutropenia, Vacuolated lymphocytes |
OMIM:208400 |
| Pmm2-Cdg |
|
Impaired neutrophil chemotaxis |
ORPHA:79318 |
