Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... |
OMIM:614470 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis |
OMIM:616871 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis |
ORPHA:2688 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Monocytosis |
OMIM:615592 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology |
OMIM:615214 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... |
OMIM:620481 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:615285 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
Hemochromatosis, Type 3 |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... |
OMIM:604250 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Absent circulating B cells, Neutropenia, Abnormal T cell morphology |
OMIM:613501 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617243 |
Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... |
ORPHA:98826 |
Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Disabling Pansclerotic Morphea Of Childhood |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia |
OMIM:620443 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis, Elevated circu... |
OMIM:619644 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... |
OMIM:308240 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... |
ORPHA:158057 |
Immunodeficiency 32B |
|
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... |
OMIM:226990 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Elevated circulating creatinine concentration, Hyperuricemia, Neutropenia |
OMIM:617056 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... |
OMIM:618986 |
Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia |
OMIM:598500 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:616738 |
Immunodeficiency 67 |
|
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... |
OMIM:607676 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hemolytic anemia,... |
OMIM:620565 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia |
ORPHA:79477 |
Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... |
ORPHA:158061 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia |
ORPHA:289916 |
Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hyperammonemia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:79312 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B... |
OMIM:619705 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil ... |
OMIM:619220 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
Immunodeficiency 7 |
|
Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia |
OMIM:615387 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level... |
OMIM:301110 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ... |
OMIM:301078 |
Specific Granule Deficiency 2 |
|
Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia |
OMIM:617475 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim... |
ORPHA:572 |
Immunodeficiency 102 |
|
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... |
OMIM:301082 |
Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... |
ORPHA:98850 |
Pelger-Huet Anomaly |
|
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... |
OMIM:169400 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hyperhomocystinemia, Th... |
OMIM:614857 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Hyperammonemia, Neutro... |
ORPHA:292 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... |
OMIM:612541 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... |
ORPHA:158048 |
Ziegler-Huang Syndrome |
|
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Hypomethioninemia |
OMIM:250940 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:601859 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... |
OMIM:304790 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Aregenerative Anemia |
|
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... |
ORPHA:101096 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia |
OMIM:619752 |
Propionic Acidemia |
|
Pancytopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:606054 |
Immunodeficiency, Common Variable, 1 |
|
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Neutr... |
OMIM:607594 |
Methylmalonic Aciduria, Cblb Type |
|
Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglycinemia, Hyperammone... |
OMIM:251110 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Methylmalonic acidemia |
OMIM:251000 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Lymphocytosis, Iron deficiency... |
ORPHA:1667 |
Immunodeficiency 110 With Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Neutropenia |
OMIM:614868 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... |
ORPHA:540 |
Neonatal Lupus Erythematosus |
|
Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia |
ORPHA:398124 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Hyperhomoc... |
ORPHA:2169 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia, Thrombocytopenia, Neutropenia, Anemia, Recurrent cutaneous abscess formation |
ORPHA:47 |
Letterer-Siwe Disease |
|
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hyperammonemia, Neutropenia |
OMIM:618253 |
Pgm3-Cdg |
|
Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia, Leukop... |
ORPHA:443811 |
Transcobalamin Ii Deficiency |
|
Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Hyperhomocystinemia, Ne... |
OMIM:275350 |
Barth Syndrome |
|
Elevated monolysocardiolipin/cardiolipin ratio, Cyclic neutropenia, Hypochromic microcytic anemia... |
OMIM:302060 |
Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:520 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:603909 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Elevated circulating creatine kinase concentration, Neutropenia, Highly elevat... |
OMIM:251900 |
Cyclic Neutropenia |
|
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia, Methylmalon... |
OMIM:251100 |
Evans Syndrome |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... |
ORPHA:1959 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Megaloblas... |
OMIM:277380 |
Acute Generalized Exanthematous Pustulosis |
|
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia |
ORPHA:293173 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:614520 |
Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N... |
OMIM:214500 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, Neutropenia, B lymphocytopenia |
OMIM:301081 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Allodynia |
ORPHA:137596 |
Felty Syndrome |
|
Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:47612 |
Diamond-Blackfan Anemia 11 |
|
Neutropenia, Anemia of inadequate production |
OMIM:614900 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia |
OMIM:616395 |
Schimke Immuno-Osseous Dysplasia |
|
Abnormal proportion of naive CD4 T cells, Lymphopenia, Hyperlipidemia, Decreased proportion of na... |
ORPHA:1830 |
Poikiloderma With Neutropenia |
|
Leukopenia, Splenomegaly, Neutropenia, Elevated circulating creatine kinase concentration |
OMIM:604173 |
Autosomal Agammaglobulinemia |
|
Neutropenia |
ORPHA:33110 |
Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Neutropenia |
OMIM:617827 |
Necrotizing Enterocolitis |
|
Hyponatremia, Thrombocytopenia, Leukocytosis, Neutropenia |
ORPHA:391673 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:613989 |
Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... |
ORPHA:91547 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Trigeminal Neuralgia |
|
Allodynia |
ORPHA:221091 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Hypoamylasemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopen... |
ORPHA:811 |
Chédiak-Higashi Syndrome |
|
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... |
ORPHA:167 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypoalbuminemia, Hypomagnesemia, Autoimmune hemolytic anemia, Splenomegaly, Hypocalcemia, Decreas... |
ORPHA:37042 |
Schimke Immunoosseous Dysplasia |
|
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia, Neutropenia, Anemia |
OMIM:242900 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Elevated circulating palmitoleylcarnitine... |
ORPHA:79284 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:617303 |
Immunodeficiency 23 |
|
Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia |
OMIM:615816 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:508542 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Decreased proportion of class-switched m... |
OMIM:614700 |
Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Elevated circulating C-reactive protein concentration, Neutrophilia, Anemia, Liver... |
ORPHA:54251 |
Pudendal Neuralgia |
|
Allodynia |
ORPHA:60039 |
Sepsis In Premature Infants |
|
Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration, Thrombocytopen... |
ORPHA:90051 |
Psoriasis 14, Pustular |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia |
OMIM:614204 |
Cartilage-Hair Hypoplasia |
|
Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge... |
OMIM:250250 |
3-Methylglutaconic Aciduria Type 7 |
|
Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro... |
ORPHA:3226 |
Hermansky-Pudlak Syndrome 2 |
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Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... |
OMIM:608233 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
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Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:613990 |
Cryptogenic Organizing Pneumonia |
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Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia |
ORPHA:1302 |
Herpes Simplex Virus Encephalitis |
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Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia |
ORPHA:1930 |
Fanconi Anemia, Complementation Group E |
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Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:600901 |
Diamond-Blackfan Anemia 7 |
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Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Agammaglobulinemia 1, Autosomal Recessive |
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Rectal abscess, Neutropenia, B lymphocytopenia |
OMIM:601495 |
Anterior Cutaneous Nerve Entrapment Syndrome |
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Allodynia |
ORPHA:51890 |
Shwachman-Diamond Syndrome 1 |
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Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:260400 |
Fanconi Anemia, Complementation Group I |
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Neutropenia |
OMIM:609053 |
Bone Marrow Failure Syndrome 3 |
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Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... |
OMIM:617052 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
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Hyperalaninemia, Hyperammonemia, Neutropenia |
OMIM:615471 |
Acute Monoblastic/Monocytic Leukemia |
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Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia |
ORPHA:514 |
3-Methylglutaconic Aciduria, Type Viib |
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Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:616271 |
Fanconi Anemia, Complementation Group A |
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Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:227650 |
Kasabach-Merritt Phenomenon |
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Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... |
ORPHA:2330 |
Mhc Class Ii Deficiency 1 |
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Neutropenia |
OMIM:209920 |
Purine Nucleoside Phosphorylase Deficiency |
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Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating inosi... |
OMIM:613179 |
Immunodeficiency 92 |
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Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... |
OMIM:619652 |
Acute Panmyelosis With Myelofibrosis |
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Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis |
ORPHA:86843 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Increased proportion of CD4-positive T cells, Leukocytosis, Elevated circulating C-reactive prote... |
OMIM:617099 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Thrombocytopenia, Hemolytic anemia, Splenomegaly, Neutropenia |
OMIM:308230 |
Hermansky-Pudlak Syndrome 10 |
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Splenomegaly, Neutropenia |
OMIM:617050 |
Pearson Marrow-Pancreas Syndrome |
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Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Reticulo... |
OMIM:557000 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
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Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Neutropenia in presence of anti-ne... |
OMIM:615952 |
Vici Syndrome |
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Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, Elevated circulatin... |
OMIM:242840 |
Fanconi Anemia, Complementation Group C |
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Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:227645 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Lymphopenia, Autoimmune thrombocytopenia, Neutropenia, T lymphocytopenia |
OMIM:607944 |
Fusariosis |
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Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Lung abscess, Neutropenia |
ORPHA:228119 |
Spinal Cord Injury |
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Allodynia |
ORPHA:90058 |
Saul-Wilson Syndrome |
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Neutropenia |
OMIM:618150 |
Shwachman-Diamond Syndrome 2 |
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Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Wiskott-Aldrich Syndrome |
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Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,... |
ORPHA:906 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Cystathioninemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Thrombocytopenia,... |
OMIM:277400 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
Glycogen Storage Disease Ib |
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Hyperuricemia, Hyperlipidemia, Splenomegaly, Neutropenia |
OMIM:232220 |
Staphylococcal Necrotizing Pneumonia |
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Elevated circulating C-reactive protein concentration, Leukopenia, Leukocytosis, Neutrophilia |
ORPHA:36238 |
Diamond-Blackfan Anemia |
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Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
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Neutropenia |
OMIM:618005 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Elevated circulating palmitoleylcarnitine concentration, Hyperammonemia, Hypomethioninemia, Megal... |
ORPHA:79282 |
Leigh Syndrome |
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Anemia, Hyperalaninemia, Neutropenia |
ORPHA:506 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... |
ORPHA:911 |
Whim Syndrome |
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Abnormal neutrophil morphology, Lymphopenia, Neutropenia |
ORPHA:51636 |
Agammaglobulinemia, X-Linked |
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Anemia, T lymphocytopenia, Neutropenia, B lymphocytopenia |
OMIM:300755 |
Revesz Syndrome |
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Macrocytic anemia, Aplastic anemia, Neutropenia |
OMIM:268130 |
Cohen Syndrome |
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Neutropenia |
ORPHA:193 |
Fanconi Anemia, Complementation Group D2 |
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Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:227646 |
Kikuchi-Fujimoto Disease |
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Leukopenia, Splenomegaly, Lymphocytosis, Elevated circulating C-reactive protein concentration, N... |
ORPHA:50918 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
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Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:436159 |
Khan-Khan-Katsanis Syndrome |
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Anemia, Lymphopenia, Neutropenia |
OMIM:618460 |
Pearson Syndrome |
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Hypomagnesemia, Pancytopenia, Reticulocytosis, Splenomegaly, Hypocalcemia, Hypokalemia, Hypophosp... |
ORPHA:699 |
Adult-Onset Still Disease |
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Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Leukocyto... |
ORPHA:829 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... |
OMIM:301074 |
Rothmund-Thomson Syndrome |
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Aplastic anemia, Anemia, Calcinosis, Neutropenia, Leukemia |
ORPHA:2909 |
Benign Schwannoma |
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Allodynia |
ORPHA:252164 |
Trichothiodystrophy |
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Anemia, Increased mean corpuscular hemoglobin concentration, Neutropenia |
ORPHA:33364 |
Toxic Epidermal Necrolysis |
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Anemia, Thrombocytopenia, Neutropenia |
ORPHA:537 |
Cartilage-Hair Hypoplasia |
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Anemia, Hypocalcemia, Neutropenia |
ORPHA:175 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Elevated circulating C-reactive protein concentration, Splenomegaly, Abscess, Neutrophilia |
OMIM:612852 |
Rothmund-Thomson Syndrome Type 1 |
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Aplastic anemia, Anemia, Calcinosis, Neutropenia, Leukemia |
ORPHA:221008 |
Autoimmune Lymphoproliferative Syndrome |
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Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Autoimmune hemol... |
ORPHA:3261 |
X-Linked Intellectual Disability, Nascimento Type |
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Neonatal hyperbilirubinemia, Recurrent cutaneous abscess formation, Neutropenia |
ORPHA:163956 |
Diamond-Blackfan Anemia 1 |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
Diffuse Cutaneous Mastocytosis |
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Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosis |
ORPHA:79456 |
Rothmund-Thomson Syndrome Type 2 |
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Aplastic anemia, Anemia, Calcinosis, Neutropenia, Leukemia |
ORPHA:221016 |
Glycogen Storage Disease Ic |
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Cyclic neutropenia, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
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Neutropenia |
OMIM:617799 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Anemia, Abnormal myelo... |
ORPHA:79259 |
Sweet Syndrome |
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Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Elevated circulating C-reactive... |
ORPHA:3243 |
Pediatric-Onset Graves Disease |
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Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:525731 |
Hermansky-Pudlak Syndrome |
|
Neutropenia |
ORPHA:79430 |
Selective Igm Deficiency |
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Decreased proportion of transitional B cells, Cutaneous abscess, Decreased proportion of CD8-posi... |
ORPHA:331235 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia |
OMIM:271510 |
Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
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Hepatosplenomegaly, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hypersple... |
ORPHA:228426 |
Familial Mediterranean Fever |
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Leukocytosis, Splenomegaly, Elevated circulating amyloid A concentration, Neutrophilia, Elevated ... |
OMIM:249100 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Lymphocytosis, Elevated circulating C-reactive protein concentrat... |
OMIM:617718 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Zygomycosis |
|
Brain abscess, Splenic abscess, Neutropenia |
ORPHA:73263 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Chronic neutropenia |
ORPHA:500095 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in p... |
ORPHA:391487 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia |
OMIM:617107 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Allodynia |
OMIM:603041 |
Hyper-Igd Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Neutrophilia |
OMIM:260920 |
Aspartylglucosaminuria |
|
Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Neutropenia |
ORPHA:95455 |
Sponastrime Dysplasia |
|
Neutropenia |
ORPHA:93357 |
Yellow Fever |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula... |
ORPHA:99829 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Splenomegaly, Hypoc... |
OMIM:619991 |