Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... |
OMIM:603552 |
Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice |
OMIM:312500 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia, Steatorrhea |
OMIM:618752 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Hep... |
OMIM:308240 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... |
OMIM:150550 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... |
OMIM:619041 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Colonic Varices Without Portal Hypertension |
|
Intestinal bleeding, Colonic varices |
OMIM:120440 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia |
OMIM:613501 |
Folate Malabsorption, Hereditary |
|
Neutropenia, Leukopenia, Malabsorption, Irritability, Thrombocytopenia, Folate-responsive megalob... |
OMIM:229050 |
Immunodeficiency 55 |
|
Lymphadenopathy, Neutropenia |
OMIM:617827 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... |
ORPHA:98826 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Elevated hepatic transaminas... |
ORPHA:158057 |
Aregenerative Anemia |
|
Dementia, Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Cognitive im... |
ORPHA:101096 |
Immunodeficiency 76 |
|
B lymphocytopenia, Colitis, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Lymphadenopathy, Leukemia, Anemia, Malabsorption, Ab... |
ORPHA:98850 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Hemochromatosis, Type 3 |
|
Neutropenia, Anemia, Cirrhosis, Lymphopenia, Elevated hepatic transaminase |
OMIM:604250 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice |
ORPHA:79477 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Lymphadenitis, Abnormally low T cell receptor excisio... |
OMIM:618986 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Lymphadenopathy, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, L... |
ORPHA:169154 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Immunodeficiency 75 |
|
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... |
OMIM:619126 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality of the pancreas, Abnormali... |
ORPHA:543 |
Cyclic Neutropenia |
|
Enterocolitis, Peritonitis, Lymphadenopathy, Perianal abscess, Cyclic neutropenia, Lymphopenia, R... |
ORPHA:2686 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Decreased liver func... |
ORPHA:158061 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... |
OMIM:601859 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia |
ORPHA:859 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Villous atrophy, Lymphadenopathy, Coombs-positive hemolytic anemia, Hepatitis, Anemi... |
OMIM:304790 |
3-Methylglutaconic Aciduria, Type Vii |
|
Neutropenia |
OMIM:616271 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
Adult Idiopathic Neutropenia |
|
Neutropenia, Helicobacter pylori infection, Monocytosis, Lymphopenia, Monocytopenia |
ORPHA:2688 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia |
OMIM:613502 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia |
OMIM:617243 |
Kimura Disease |
|
Lymphadenopathy, Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia |
ORPHA:482 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Inflammation of the large intestine, Lymphadenopathy, Decreased mean platelet volume, Lymphocytos... |
OMIM:617718 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Letterer-Siwe Disease |
|
Neutropenia, Anemia, Hepatosplenomegaly, Irritability, Thrombocytopenia, Jaundice |
OMIM:246400 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia |
ORPHA:79312 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Neutropenia, Villous atrophy, Colitis, Malabsorption, Viral hepatitis, Biliary tract... |
OMIM:209920 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Dysphagia, Abnormal esophagus physiology, Esophageal neoplasm, Abnormal large intes... |
ORPHA:2198 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Neutropenia, Chronic hepatitis, Sclerosing cholangitis, Hepatitis, Splenomegaly, Ci... |
OMIM:308230 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly,... |
ORPHA:398124 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Macroglossia, Hepatomegaly, Microcytic anemia, Neutropenia |
OMIM:251900 |
X-Linked Agammaglobulinemia |
|
Neutropenia, Recurrent cutaneous abscess formation, Abnormality of the lymphatic system, Hepatiti... |
ORPHA:47 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Abnormal intestine morphology, Neutropenia |
OMIM:600351 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Cognitive impairment, Neutropenia |
OMIM:617056 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Decreased liver function, Chole... |
ORPHA:540 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Celiac disease, Decreased pr... |
OMIM:619375 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Cleft palate, Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Crohn's disease, Neutropenia |
OMIM:601495 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia |
OMIM:612527 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... |
OMIM:619281 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess |
OMIM:607676 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cleft palate, Neutropenia, High palate, Leukopenia, Monocytosis, Hypoplasia of the ... |
OMIM:612541 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Recurrent infection of the gastrointestinal tract, Neutropenia, Neutropen... |
ORPHA:572 |
Congenital Enterovirus Infection |
|
Leukocytosis, Neutropenia, Leukopenia, Hepatitis, Anemia, Abnormal macrophage morphology, Irritab... |
ORPHA:292 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Diamond-Blackfan Anemia 11 |
|
Cleft palate, Neutropenia, Anemia, Bone marrow hypocellularity, Anemia of inadequate production |
OMIM:614900 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnor... |
ORPHA:54251 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Lymphadenopathy, Lymphadenitis, Absence of CD8... |
ORPHA:911 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Lymphadenopathy, Neo... |
ORPHA:424019 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, In... |
OMIM:614700 |
Idiopathic Aplastic Anemia |
|
Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
ORPHA:88 |
Felty Syndrome |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellu... |
ORPHA:47612 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Decre... |
ORPHA:276 |
Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent infection of the gastrointestinal tract, Acute lymphoblastic leukemia, Neutropenia, Mon... |
ORPHA:486 |
Poikiloderma With Neutropenia |
|
Neutropenia, Splenomegaly |
OMIM:604173 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil... |
OMIM:214500 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lymphocytosis |
ORPHA:79087 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Dysphagia, Inflammation of the large intestine, Neutropenia, Chronic gastritis, Colitis |
OMIM:608809 |
Barth Syndrome |
|
Granulocytopenia, Neutropenia |
OMIM:302060 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Lactose intolerance, High palate, Neutropenia, Abnormal proportion of CD8... |
ORPHA:443811 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
Pelger-Huet Anomaly |
|
Neutropenia, Hyposegmentation of neutrophil nuclei, Median cleft palate, Giant platelets, Thrombo... |
OMIM:169400 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... |
ORPHA:3226 |
Autosomal Agammaglobulinemia |
|
High palate, Hepatitis, Neutropenia, Malabsorption |
ORPHA:33110 |
X-Linked Lymphoproliferative Disease |
|
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Absent natural killer cells, ... |
ORPHA:2442 |
Cartilage-Hair Hypoplasia |
|
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Aganglionic megaco... |
OMIM:250250 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Abnormal intestine morphology, Celiac disease, Neutropenia in presence of anti-neutropil antibodi... |
OMIM:615952 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
Specific Granule Deficiency 2 |
|
Anemia, Thrombocytopenia, Neutropenia, Absent neutrophil specific granules |
OMIM:617475 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impa... |
OMIM:618935 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Abnormal T cell s... |
ORPHA:158048 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
OMIM:251190 |
Shwachman-Diamond Syndrome |
|
Neutropenia, Pancreatic hypoplasia, Leukemia, Steatorrhea, Pancytopenia, Bone marrow hypocellular... |
ORPHA:811 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Neutropenia, Iron deficiency anemia, Abnormality of the liver, Acute hepatic failur... |
ORPHA:1667 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Hepatomegaly, Lymphadenopathy, Abnormality of the liver, Myeloprolifer... |
ORPHA:79456 |
Nk-Cell Enteropathy |
|
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Increased T ... |
ORPHA:263665 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Anemia, Thrombocytopenia, Gastroesophageal reflux, Neutropenia |
OMIM:614857 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... |
OMIM:612840 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal intestine morphology, Neutropenia, Neutropenia in presence of anti-neutropil antibodies,... |
ORPHA:37042 |
Sepsis In Premature Infants |
|
Leukocytosis, Hepatomegaly, Neutropenia, Functional abnormality of the gastrointestinal tract, Ga... |
ORPHA:90051 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Neutropenia, Leukopenia, Lymphadenopathy, Anemia, Pancytopenia, Thrombocytopenia |
ORPHA:520 |
Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, High palate, Normocytic anemia, Neutropenia, Hyperechogenic pancreas, Steatorrhea, ... |
OMIM:617941 |
Shwachman-Diamond Syndrome 1 |
|
Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Persistence of hemoglobin F, Ac... |
OMIM:260400 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Irritability, Reticulocytopenia, Pancytopenia |
OMIM:275350 |
Lichtenstein Syndrome |
|
Neutropenia |
OMIM:246550 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Sple... |
OMIM:608233 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
High palate, Neutropenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:614520 |
Chédiak-Higashi Syndrome |
|
Abnormal natural killer cell morphology, Dementia, Neutropenia, Thrombocytopenia, Elevated hepati... |
ORPHA:167 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Retinal Venous Beading |
|
Neutropenia |
OMIM:180080 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Macrothrombocytopenia, Neutropenia |
OMIM:603585 |
Propionic Acidemia |
|
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Pancytopenia, Thrombocytopenia |
OMIM:606054 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Crohn's disease, Autoimmune thrombocytopenia, Lympho... |
OMIM:616100 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Abnormal intestine morphology, Neutropenia, Bone marro... |
ORPHA:1830 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Neutropenia, Leukopenia, Macroglossia, Anemia, Bone marrow hypocellularity, Splenom... |
OMIM:617303 |
Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia, Cervical lymph... |
ORPHA:514 |
3-Methylglutaconic Aciduria Type 7 |
|
Neutropenia, Bone marrow hypocellularity, Hepatic steatosis, Elevated hepatic transaminase, Infec... |
ORPHA:445038 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... |
ORPHA:86843 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymph node hypoplasia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasi... |
OMIM:613179 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Neutropenia, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Anemia, Ab... |
ORPHA:50918 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Abnormality of the liver, Panc... |
ORPHA:2169 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia |
OMIM:602450 |
Evans Syndrome |
|
Jaundice, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of an... |
ORPHA:1959 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Neutropenia, Anemia, Pancytopenia, Thrombocytopenia |
OMIM:251110 |
Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, I... |
OMIM:619350 |
Kasabach-Merritt Syndrome |
|
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Abnormal lymphatic vessel morphology,... |
ORPHA:2330 |
Blue Rubber Bleb Nevus |
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Rectal prolapse, Iron deficiency anemia, Volvulus, Abnormality of the liver, Intussusception, Int... |
OMIM:112200 |
Adult-Onset Still Disease |
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Leukocytosis, Hepatomegaly, Hepatitis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia, G... |
ORPHA:829 |
Aspergillosis |
|
Eosinophilia, Hepatitis, Neutropenia, Abnormal esophagus morphology |
ORPHA:1163 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Monocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Acute hepatic failu... |
OMIM:619644 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Normo... |
ORPHA:98849 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Neutropenia, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:242900 |
Cohen Syndrome |
|
High, narrow palate, Neutropenia, Leukopenia |
OMIM:216550 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Neutropenia, Splenomegaly |
OMIM:617050 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Neutropenia, Anemia, Pancytopenia, Thrombocytopenia |
OMIM:251100 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
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Cholangitis, Abnormal intestine morphology, Neutropenia in presence of anti-neutropil antibodies,... |
ORPHA:228426 |
Toxic Epidermal Necrolysis |
|
Dysphagia, Neutropenia, Intestinal perforation, Anemia, Pancreatitis, Malabsorption, Acute hepati... |
ORPHA:537 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
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Cleft palate, Neutropenia, Megaloblastic anemia, Glossitis, Reduced number of intrahepatic bile d... |
ORPHA:79284 |
Necrotizing Enterocolitis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Peritonitis |
ORPHA:391673 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
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High palate, Neutropenia, Megaloblastic anemia, Glossitis, Pancytopenia, Thrombocytopenia |
OMIM:277380 |
Immunodeficiency 23 |
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High palate, Neutropenia, Abscess, Esophageal stricture, Lymphopenia, Eosinophilia, Hemolytic anemia |
OMIM:615816 |
Whim Syndrome |
|
Neutropenia, Abnormality of the small intestine, Lymphadenitis, Parotitis, Lymphopenia, Abnormali... |
ORPHA:51636 |
Congenital Disorder Of Glycosylation, Type Iic |
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Anxiety, Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Reticulocytopeni... |
ORPHA:508542 |
Fusariosis |
|
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Peritonitis, Abnormality of ... |
ORPHA:228119 |
Pearson Syndrome |
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Hepatomegaly, Dysphagia, Neutropenia, Macronodular cirrhosis, Elevated hepatic transaminase, Medi... |
ORPHA:699 |
Psoriasis 14, Pustular |
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Geographic tongue, Leukocytosis, Cholangitis, Furrowed tongue, Neutrophilia |
OMIM:614204 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Cleft palate, Neutropenia, Increased mean corpuscular volume, Esophagitis |
OMIM:612562 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
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Elevated hepatic transaminase, Dysphagia, Gastroesophageal reflux, Neutropenia |
OMIM:615471 |
Congenital Tufting Enteropathy |
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Villous atrophy, Malabsorption, Cholestatic liver disease, Abnormal small intestinal mucosa morph... |
ORPHA:92050 |
Neonatal Alloimmune Neutropenia |
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Jaundice, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Zygomycosis |
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Brain abscess, Colon perforation, Splenic abscess, Mediastinal lymphadenopathy, Neutropenia, Peri... |
ORPHA:73263 |
Pediatric-Onset Graves Disease |
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Mood swings, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Ir... |
ORPHA:525731 |
Fanconi Anemia, Complementation Group I |
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Bone marrow hypocellularity, Neutropenia |
OMIM:609053 |
Glycogen Storage Disease Ib |
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Hepatomegaly, Neutropenia, Hepatocellular carcinoma, Pancreatitis, Elevated hepatic transaminase |
OMIM:232220 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Hepatomegaly, Inflammation of the large intestine, Hepatocellular carcinoma,... |
ORPHA:79259 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Neutropenia, Lymphadenopathy, Autoimmune thrombocytopenia, Lymphopenia, T lymphocytopenia |
OMIM:607944 |
Fanconi Anemia, Complementation Group D2 |
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Neutropenia, Annular pancreas, Leukemia, Bone marrow hypocellularity, Anemia, Esophageal atresia,... |
OMIM:227646 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Lymphadenopathy, Hepatitis, Acute hepatic failure, Lymphocytosis, Elevated hepatic transaminase, ... |
ORPHA:139402 |
Wiskott-Aldrich Syndrome |
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Inflammation of the large intestine, Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chron... |
ORPHA:906 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Rectal prolapse, Schistocytosis, Microangiopathic hemolytic anemia, Peritonitis, Ac... |
ORPHA:90038 |
Adenocarcinoma Of The Anal Canal |
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Rectal prolapse, Neoplasm of the rectum, Lymphadenopathy, Neoplasm of the liver, Intestinal bleed... |
ORPHA:424016 |
Fanconi Anemia, Complementation Group C |
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Neutropenia, Leukemia, Bone marrow hypocellularity, Anemia, Reticulocytopenia, Pancytopenia, Thro... |
OMIM:227645 |
Fanconi Anemia, Complementation Group E |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:600901 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dementia, Neutropenia, Megaloblastic anemia, Glossitis, Mental deterioration, Thrombocytopenia, M... |
ORPHA:79282 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Aganglionic megacolon, Neutropenia, Cognitive impairment, Anemia, Malabsorption, Ab... |
ORPHA:175 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227650 |
Leigh Syndrome |
|
Dysphagia, Neutropenia, Gastrointestinal dysmotility, Anemia, Progressive neurologic deterioratio... |
ORPHA:506 |
Selective Igm Deficiency |
|
Recurrent infection of the gastrointestinal tract, Stomach cancer, Neutropenia in presence of ant... |
ORPHA:331235 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Thrombocytopenia, Dementia, Megaloblastic anemia, Neutropenia |
OMIM:277400 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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B lymphocytopenia, Abnormal intestine morphology, Villous atrophy, Neutropenia in presence of ant... |
ORPHA:391487 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy, Leukocytosis, Neutrophilia, Increased proportion of CD4-positive T cells |
OMIM:617099 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Anemia, Neutrophilia, Elevated hepatic transaminase, Thrombocytopenia, ... |
ORPHA:91547 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Portal fibrosis, Splenomegaly, Hepatosplenomegaly, Eosinophilia, Leukocytosis, Demen... |
ORPHA:3260 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
High palate, Neutropenia |
OMIM:618005 |
Diamond-Blackfan Anemia 1 |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Cleft palate, High pala... |
OMIM:105650 |
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Anemia, Acute myeloid leukemia, Neutropenia, Steatorrhea |
OMIM:601347 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Neutropenia, Malabsorption |
ORPHA:79430 |
Cohen Syndrome |
|
High, narrow palate, Aplasia/Hypoplasia of the tongue, Neutropenia |
ORPHA:193 |
Trichothiodystrophy |
|
Anemia, High, narrow palate, Neutropenia, Increased mean corpuscular hemoglobin concentration |
ORPHA:33364 |
Hyper-Igd Syndrome |
|
Leukocytosis, Lymphadenopathy, Lymphadenitis, Splenomegaly, Neutrophilia, Hepatosplenomegaly |
OMIM:260920 |
Rothmund-Thomson Syndrome Type 2 |
|
Cleft palate, Neutropenia, High palate, Leukemia, Functional abnormality of the gastrointestinal ... |
ORPHA:221016 |
Scleroderma |
|
Abnormality of the small intestine, Abnormal large intestine morphology, Cognitive impairment, Ab... |
ORPHA:801 |
Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Rothmund-Thomson Syndrome Type 1 |
|
Neutropenia, Leukemia, Functional abnormality of the gastrointestinal tract, Anemia, Aplastic anemia |
ORPHA:221008 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Neutrophilia, Abscess, Hepatomegaly, Splenomegaly |
OMIM:612852 |
X-Linked Intellectual Disability, Nascimento Type |
|
Aggressive behavior, Neutropenia, Recurrent cutaneous abscess formation |
ORPHA:163956 |
Rothmund-Thomson Syndrome |
|
Leukemia, Aplastic anemia, Neutropenia, Anemia |
ORPHA:2909 |
Familial Mediterranean Fever |
|
Leukocytosis, Hepatomegaly, Peritonitis, Splenomegaly, Neutrophilia, Crohn's disease |
OMIM:249100 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Lymph node hypoplasia |
OMIM:300755 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Inflammation of the large intestine, Sterile abscess, A... |
ORPHA:3243 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Neutropenia, Elevated hepatic transaminase, Xerostomia, Abnormality of the anus, Intestinal perfo... |
ORPHA:95455 |
Staphylococcal Necrotizing Pneumonia |
|
Leukocytosis, Neutrophilia, Leukopenia |
ORPHA:36238 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia |
OMIM:271510 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Chronic neutropenia, Transient neutropenia, Macroglossia |
ORPHA:500095 |
Crimean-Congo Hemorrhagic Fever |
|
Mood swings, Leukocytosis, Hepatomegaly, Leukopenia, Lymphadenopathy, Melena, Splenomegaly, Hemop... |
ORPHA:99827 |
Aspartylglucosaminuria |
|
Macroglossia, Vacuolated lymphocytes, Neutropenia, Hepatomegaly |
OMIM:208400 |
Fg Syndrome Type 1 |
|
Pyloric stenosis, High palate, Abnormal large intestine morphology, Anal atresia, Gastroesophagea... |
ORPHA:93932 |
Systemic Sclerosis |
|
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Abnormal stom... |
ORPHA:90291 |
Leukocyte Adhesion Deficiency Type Ii |
|
Leukocytosis, Hepatomegaly, Anemia, Neutrophilia, Narrow palate, Microcytic anemia, Protruding to... |
ORPHA:99843 |
Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
Sponastrime Dysplasia |
|
Neutropenia |
ORPHA:93357 |
Yellow Fever |
|
Leukocytosis, Neutrophilia, Elevated circulating alanine aminotransferase concentration, Elevated... |
ORPHA:99829 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Narrow palate, Hamartomatous polyposis, Abnormal large intestine morphology, Intestinal polyposis |
ORPHA:109 |
Alveolar Soft Part Sarcoma |
|
|
OMIM:606243 |