Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... |
OMIM:614470 |
Immunodeficiency 110 With Lymphoproliferation |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
X-Linked Severe Congenital Neutropenia |
|
Neutropenia, Monocytopenia |
ORPHA:86788 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Monocytosis, Leukopenia, Acute myeloid leukemia, Refractory anemia |
OMIM:616871 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hemophagocytosis, Thr... |
OMIM:603552 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:615285 |
Hemochromatosis, Type 3 |
|
Anemia, Elevated transferrin saturation, Lymphopenia, Increased circulating ferritin concentratio... |
OMIM:604250 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Neutropenia, Absent circulating B cells |
OMIM:613501 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia, Hyponatremia |
OMIM:616949 |
Specific Granule Deficiency 1 |
|
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... |
OMIM:245480 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617243 |
Glutathione Synthetase Deficiency |
|
Neutropenia, Hemolytic anemia |
OMIM:266130 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Transcobalamin Deficiency |
|
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia |
ORPHA:859 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... |
ORPHA:486 |
Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytopenia, Anemia... |
ORPHA:98826 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Neutropenia, Acute lymphoblastic leukemia |
OMIM:610738 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Hemophagocytosis, Elevated circulating C-reactive protein conce... |
OMIM:619644 |
Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... |
OMIM:159550 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... |
ORPHA:158057 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Neutropenia |
OMIM:613502 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ... |
OMIM:308240 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia |
OMIM:612527 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomega... |
OMIM:150550 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... |
OMIM:226990 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Anemia, Neutropenia, Hyperuricemia |
OMIM:617056 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia |
OMIM:598500 |
Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... |
OMIM:618986 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Increased circulating ferritin ... |
ORPHA:158061 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Hemophagocytosis, Hyperlipidemia, Neutropenia, Splenomegaly |
ORPHA:79477 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Neutropenia, Hyperammonemia, Anemia |
ORPHA:289916 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... |
OMIM:300835 |
Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets |
ORPHA:238459 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:79312 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent cir... |
OMIM:619705 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune hemoly... |
OMIM:619220 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, ... |
OMIM:301078 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Neutropenia, Splenomegaly |
OMIM:615387 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
T lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Pancytopenia, Autoimmune... |
ORPHA:572 |
Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence... |
OMIM:301082 |
Specific Granule Deficiency 2 |
|
Thrombocytopenia, Neutropenia, Absent neutrophil specific granules, Anemia |
OMIM:617475 |
Congenital Enterovirus Infection |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Hyperammonemia, Leukocytosis, Thrombocytopeni... |
ORPHA:292 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia... |
ORPHA:158048 |
Idiopathic Aplastic Anemia |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:88 |
Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... |
OMIM:169400 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Elevated circulating propionylcar... |
OMIM:614857 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Aggressive Systemic Mastocytosis |
|
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD25+ mast cells... |
ORPHA:98850 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Hyperammonemia, Thrombocytopenia, Neutropenia |
OMIM:251000 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen... |
OMIM:612541 |
Diamond-Blackfan Anemia 11 |
|
Anemia, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased... |
OMIM:601859 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... |
ORPHA:35858 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Neutropenia, Macrothrombocytopenia |
OMIM:603585 |
Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... |
OMIM:601775 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia |
OMIM:619752 |
Propionic Acidemia |
|
Anemia, Hyperglycinemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Neutropenia |
OMIM:606054 |
Methylmalonic Aciduria, Cblb Type |
|
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, ... |
OMIM:251110 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Wolcott-Rallison Syndrome |
|
Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency anemia, Neutrope... |
ORPHA:1667 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hemophagocytosis, Thr... |
ORPHA:540 |
Methylmalonic Aciduria, Cbla Type |
|
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, ... |
OMIM:251100 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Letterer-Siwe Disease |
|
Thrombocytopenia, Anemia, Neutropenia, Hepatosplenomegaly |
OMIM:246400 |
X-Linked Agammaglobulinemia |
|
Anemia, Hypocalcemia, Recurrent cutaneous abscess formation, Thrombocytopenia, Neutropenia |
ORPHA:47 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop... |
OMIM:304790 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
Methylcobalamin Deficiency Type Cble |
|
Hyperhomocystinemia, Hypomethioninemia, Pancytopenia, Macrocytic anemia, Increased mean corpuscul... |
ORPHA:2169 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hyperammonemia, Neutropenia |
OMIM:618253 |
Neonatal Lupus Erythematosus |
|
Anemia, Neutropenia, Hemolytic anemia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Splenomegaly |
ORPHA:398124 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Highly elevated creatine kinase, Neutropenia, Microcytic anemia, Elevated circulating creatine ki... |
OMIM:251900 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... |
ORPHA:443811 |
Cyclic Neutropenia |
|
Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... |
ORPHA:2686 |
Necrotizing Enterocolitis |
|
Thrombocytopenia, Neutropenia, Leukocytosis, Hyponatremia |
ORPHA:391673 |
Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Pancytopenia, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:520 |
Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Giant neutrophil granules, Hemophagocytosis, Impaired neutrophil bactericidal... |
OMIM:214500 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Anemia, Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Panc... |
OMIM:277380 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:603909 |
Barth Syndrome |
|
Hypochromic microcytic anemia, Neutropenia, Cyclic neutropenia, Granulocytopenia |
OMIM:302060 |
Felty Syndrome |
|
Anemia, Thrombocytopenia, Neutropenia, Splenomegaly, Abnormal lymphocyte morphology |
ORPHA:47612 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:614520 |
Transcobalamin Ii Deficiency |
|
Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia |
OMIM:275350 |
Evans Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, Autoimmune thr... |
ORPHA:1959 |
Immunodeficiency 55 |
|
Neutropenia, Absent natural killer cells, Lymphopenia |
OMIM:617827 |
Trichothiodystrophy 3, Photosensitive |
|
Neutropenia, Lymphopenia |
OMIM:616395 |
Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
Poikiloderma With Neutropenia |
|
Leukopenia, Neutropenia, Splenomegaly, Elevated circulating creatine kinase concentration |
OMIM:604173 |
Schimke Immuno-Osseous Dysplasia |
|
Anemia, Lymphopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Thrombocytopenia,... |
ORPHA:1830 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentratio... |
ORPHA:79284 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Hypoamylasemia, Imp... |
ORPHA:811 |
Neurotrophic Keratopathy |
|
Allodynia, Anterior uveitis |
ORPHA:137596 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Neutropenia |
OMIM:613989 |
Chédiak-Higashi Syndrome |
|
Anemia, Hypertriglyceridemia, Neutropenia, Pancytopenia, Hepatosplenomegaly, Increased circulatin... |
ORPHA:167 |
Autosomal Agammaglobulinemia |
|
Neutropenia |
ORPHA:33110 |
Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Elevated circulating C-reactive prot... |
ORPHA:91547 |
Schimke Immunoosseous Dysplasia |
|
Anemia, Abnormal T cell morphology, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:242900 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Anemia, Brain abscess, Liver abscess, Neutrophilia, Elevated circulating C-reactive protein conce... |
ORPHA:54251 |
Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Thrombocytopenia, Neutropenia, Splenomegaly, Hypoalbuminemia |
OMIM:617303 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:508542 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ... |
ORPHA:37042 |
Psoriasis 14, Pustular |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:614204 |
Sepsis In Premature Infants |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Thrombocytopenia, Ne... |
ORPHA:90051 |
Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Eosinophilia, Neutropenia, Abscess |
OMIM:615816 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... |
OMIM:613179 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:614700 |
3-Methylglutaconic Aciduria Type 7 |
|
Neutropenia, Infection associated neutropenia |
ORPHA:445038 |
Aspergillosis |
|
Neutropenia, Eosinophilia |
ORPHA:1163 |
Cartilage-Hair Hypoplasia |
|
Anemia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemi... |
OMIM:250250 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Abs... |
OMIM:608233 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Leukocytosis, Myeloproliferative disorder, Thrombocytopenia, Acute leu... |
ORPHA:3226 |
Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia |
ORPHA:1930 |
Fanconi Anemia, Complementation Group E |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:600901 |
Trigeminal Neuralgia |
|
Allodynia |
ORPHA:221091 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hyperalaninemia, Hyperammonemia, Neutropenia |
OMIM:615471 |
Fanconi Anemia, Complementation Group I |
|
Neutropenia |
OMIM:609053 |
Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:1302 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, Neutropenia, B lymphocytopenia |
OMIM:601495 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni... |
OMIM:277400 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
Fanconi Anemia, Complementation Group A |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:227650 |
3-Methylglutaconic Aciduria, Type Viib |
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Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:616271 |
Kasabach-Merritt Syndrome |
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Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop... |
ORPHA:2330 |
Acute Monoblastic/Monocytic Leukemia |
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Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia |
ORPHA:514 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Neutrophilia, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive prote... |
OMIM:617099 |
Anterior Cutaneous Nerve Entrapment Syndrome |
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Allodynia |
ORPHA:51890 |
Bare Lymphocyte Syndrome, Type Ii |
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Neutropenia |
OMIM:209920 |
Hermansky-Pudlak Syndrome 10 |
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Neutropenia, Splenomegaly |
OMIM:617050 |
Acute Panmyelosis With Myelofibrosis |
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Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Splenomegaly |
ORPHA:86843 |
Pearson Marrow-Pancreas Syndrome |
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Anemia, Reticulocytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Sideroblastic ane... |
OMIM:557000 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:308230 |
Immunodeficiency 92 |
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B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... |
OMIM:619652 |
Adult-Onset Still Disease |
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Abnormal circulating lipid concentration, Neutrophilia, Elevated circulating C-reactive protein c... |
ORPHA:829 |
Vici Syndrome |
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Leukopenia, T lymphocytopenia, Lymphopenia, Elevated circulating creatine kinase concentration, D... |
OMIM:242840 |
Fanconi Anemia, Complementation Group C |
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Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:227645 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Neutropenia, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:607944 |
Fusariosis |
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Brain abscess, Granuloma, Lung abscess, Lymphopenia, Abnormality of the spleen, Neutropenia |
ORPHA:228119 |
Saul-Wilson Syndrome |
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Neutropenia |
OMIM:618150 |
Glycogen Storage Disease Ib |
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Hyperuricemia, Neutropenia, Splenomegaly, Hyperlipidemia |
OMIM:232220 |
Shwachman-Diamond Syndrome 2 |
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Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Wiskott-Aldrich Syndrome |
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Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lymphopenia, ... |
ORPHA:906 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
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Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, Autoimmune thr... |
OMIM:615952 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Elevated circulating palmitole... |
ORPHA:79282 |
Leigh Syndrome |
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Hyperalaninemia, Anemia, Neutropenia |
ORPHA:506 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
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Neutropenia |
OMIM:618005 |
X-Linked Lymphoproliferative Disease |
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Increased B cell count, Reduced natural killer cell count, Hypertriglyceridemia, T lymphocytopeni... |
ORPHA:2442 |
Blackfan-Diamond Anemia |
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Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:36238 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos... |
ORPHA:911 |
Whim Syndrome |
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Neutropenia, Lymphopenia, Abnormality of neutrophil morphology |
ORPHA:51636 |
Kikuchi-Fujimoto Disease |
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Leukopenia, Anemia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Thrombo... |
ORPHA:50918 |
Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
Agammaglobulinemia, X-Linked |
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Anemia, Neutropenia, T lymphocytopenia, B lymphocytopenia |
OMIM:300755 |
Rothmund-Thomson Syndrome |
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Anemia, Calcinosis, Aplastic anemia, Neutropenia, Leukemia |
ORPHA:2909 |
Fanconi Anemia, Complementation Group D2 |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:227646 |
Pearson Syndrome |
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Anemia, Hyperalaninemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Reticulocytosis, Pancytopen... |
ORPHA:699 |
Khan-Khan-Katsanis Syndrome |
|
Anemia, Neutropenia, Lymphopenia |
OMIM:618460 |
Rothmund-Thomson Syndrome Type 1 |
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Anemia, Calcinosis, Aplastic anemia, Neutropenia, Leukemia |
ORPHA:221008 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... |
ORPHA:3261 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Reduced natural killer cell count, Perianal abscess, Lymphocytosis, Thrombocytosis, Decreased pro... |
OMIM:301074 |
Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia |
ORPHA:33364 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Elevated circulating C-reactive protein concentration, Neutrophilia, Splenomegaly, Abscess |
OMIM:612852 |
Rothmund-Thomson Syndrome Type 2 |
|
Anemia, Calcinosis, Aplastic anemia, Neutropenia, Leukemia |
ORPHA:221016 |
Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Neutropenia, Anemia |
ORPHA:537 |
Cartilage-Hair Hypoplasia |
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Anemia, Neutropenia, Hypocalcemia |
ORPHA:175 |
Diamond-Blackfan Anemia 1 |
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Reticulocytopenia, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red cell adenosine dea... |
OMIM:105650 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neutropenia, Neonatal hyperbilirubinemia |
ORPHA:163956 |
Sweet Syndrome |
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Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Neutrophilia, Elevat... |
ORPHA:3243 |
Pediatric-Onset Graves Disease |
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Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly |
ORPHA:525731 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Chronic neutropenia, Anemia, Hyperuricemia, Abnormal myeloid leukocyte morphology, Hyperlipidemia... |
ORPHA:79259 |
Diffuse Cutaneous Mastocytosis |
|
Lymphocytosis, Abnormality of the spleen, Myeloproliferative disorder |
ORPHA:79456 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Neutropenia |
OMIM:617799 |
Glycogen Storage Disease Ic |
|
Hyperuricemia, Cyclic neutropenia, Hyperlipidemia |
OMIM:232240 |
Hermansky-Pudlak Syndrome |
|
Neutropenia |
ORPHA:79430 |
Selective Igm Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of CD8-positive T cell... |
ORPHA:331235 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia |
OMIM:271510 |
Familial Mediterranean Fever |
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Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... |
OMIM:249100 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Hypersplenism, Pancytopenia, Hepatosplenome... |
ORPHA:228426 |
Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume, Elevated circulating C-reactive ... |
OMIM:617718 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph... |
ORPHA:391487 |
Zygomycosis |
|
Brain abscess, Neutropenia, Splenic abscess |
ORPHA:73263 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Lymphocytosis, Eosinophilia |
ORPHA:139402 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Chronic neutropenia, Transient neutropenia |
ORPHA:500095 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
Benign Schwannoma |
|
Allodynia |
ORPHA:252164 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia |
OMIM:617107 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Allodynia |
OMIM:603041 |
Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly |
OMIM:260920 |
Aspartylglucosaminuria |
|
Neutropenia, Vacuolated lymphocytes |
OMIM:208400 |
Sponastrime Dysplasia |
|
Neutropenia |
ORPHA:93357 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Neutropenia |
ORPHA:95455 |
Yellow Fever |
|
Hyperbilirubinemia, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosi... |
ORPHA:99829 |
Liver Disease, Severe Congenital |
|
Leukopenia, Anemia, Hyperalaninemia, Lymphocytosis, Hyperbilirubinemia, Elevated hepatic iron con... |
OMIM:619991 |