Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Trimethylaminuria |
|
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Transcobalamin Deficiency |
|
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... |
ORPHA:859 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Neutropenia |
OMIM:266130 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... |
OMIM:598500 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... |
OMIM:618986 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... |
OMIM:308240 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... |
OMIM:301078 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Neutropenia |
OMIM:618752 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,... |
OMIM:617056 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Cirrhosis, Anemia, Neutropenia |
OMIM:604250 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... |
ORPHA:158057 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Anemia, Renal tubular dysfunction, Neutropenia, Pancreatitis, ... |
ORPHA:289916 |
Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... |
ORPHA:98850 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... |
OMIM:301082 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:603909 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab... |
ORPHA:158061 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Acquired Partial Lipodystrophy |
|
Microscopic hematuria, Hepatic steatosis, Lymphocytosis, Proteinuria |
ORPHA:79087 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... |
ORPHA:2686 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia... |
OMIM:304790 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Cholestasis, Anemia,... |
ORPHA:398124 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Thrombocytopenia |
OMIM:603585 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617475 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, Neutropenia, Ab... |
ORPHA:47612 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Leukopenia, Tubulointerstit... |
OMIM:251000 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neut... |
ORPHA:293173 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... |
ORPHA:572 |
3-Methylglutaconic Aciduria, Type Viia |
|
3-Methylglutaconic aciduria, Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... |
OMIM:226990 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... |
ORPHA:86843 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... |
OMIM:214500 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Hyperglycinuria, Anemia, N... |
OMIM:606054 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
OMIM:614520 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s... |
ORPHA:47 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Hematuria, Neutropenia, Thromboc... |
ORPHA:520 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
Diamond-Blackfan Anemia 11 |
|
Unilateral renal agenesis, Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Neonatal Alloimmune Neutropenia |
|
Jaundice, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cholestatic liver disease, Hemopha... |
ORPHA:540 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypo... |
OMIM:613989 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch... |
ORPHA:514 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia |
OMIM:617827 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... |
ORPHA:158048 |
Pgm3-Cdg |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Abnormal proportion of CD8-positive T... |
ORPHA:443811 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Bone marrow hypoc... |
ORPHA:445038 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal... |
OMIM:275350 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Hepatitis, Cholestasis, Anemia, Leukopenia, Neutrop... |
ORPHA:292 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Iron deficiency anemia, Abno... |
ORPHA:1667 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic aciduria, Normochromic anemia, Neutropenia, Homocystinuria, Thrombocytopenia |
OMIM:614857 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Ketonuria, Methylmalonic aciduria, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251110 |
Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Microscopic hematuria, Minimal change glomerulonephritis, Thrombocytopenia, Stage 5 ... |
ORPHA:1830 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Anemia, Leukopenia, Nephrotic syndrome, Focal segmental ... |
OMIM:617303 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... |
OMIM:614700 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... |
ORPHA:54251 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Abnormality of the liver, Increased m... |
ORPHA:2169 |
Barth Syndrome |
|
Cyclic neutropenia, Hypochromic microcytic anemia, 3-Methylglutaconic aciduria, Granulocytopenia,... |
OMIM:302060 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Auto... |
ORPHA:1959 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Abnormal T cell m... |
OMIM:242900 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Neutropenia |
OMIM:618253 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Neutropenia, Nephrolithiasis, Focal... |
OMIM:232220 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatospleno... |
OMIM:608233 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... |
OMIM:612541 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmaloni... |
OMIM:251100 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer... |
ORPHA:79456 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
Fanconi Anemia, Complementation Group I |
|
Renal hypoplasia, Horseshoe kidney, Bone marrow hypocellularity, Neutropenia, Vesicoureteral reflux |
OMIM:609053 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... |
ORPHA:2330 |
Necrotizing Enterocolitis |
|
Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Hemoly... |
OMIM:619644 |
Autosomal Agammaglobulinemia |
|
Hepatitis, Neutropenia |
ORPHA:33110 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Persistence of hemoglobin F, Anemia, Nephroca... |
OMIM:260400 |
Sepsis In Premature Infants |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Jaundice, Oliguria, Anemia, Reversible renal failure, N... |
ORPHA:90051 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Splenomegaly, Neutropenia |
OMIM:617050 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Cystathioninuria, Methylmalonic aciduria, Anemi... |
OMIM:277380 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia |
OMIM:616395 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Anemia, Neutropenia, Leukemia,... |
OMIM:600901 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... |
ORPHA:508542 |
Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
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Hepatomegaly, Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Neutropenia, Myoglobinuria |
OMIM:251900 |
Bare Lymphocyte Syndrome, Type Ii |
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Viral hepatitis, Biliary tract abnormality, Cholangitis, Neutropenia |
OMIM:209920 |
Immunodeficiency 23 |
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Hemolytic anemia, Membranoproliferative glomerulonephritis, Eosinophilia, Abscess, Neutropenia, L... |
OMIM:615816 |
Pearson Marrow-Pancreas Syndrome |
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Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Thrombocytopenia, Reticulo... |
OMIM:557000 |
Diamond-Blackfan Anemia 7 |
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Macrocytic anemia, Horseshoe kidney, Increased mean corpuscular volume, Neutropenia, Vesicoureter... |
OMIM:612562 |
Bone Marrow Failure Syndrome 3 |
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Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe... |
OMIM:617052 |
Fanconi Anemia, Complementation Group A |
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Pancytopenia, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Anemia, Neutropenia, Leukemia,... |
OMIM:227650 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
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Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic aciduria, Reduced number of intrah... |
ORPHA:79284 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... |
ORPHA:167 |
Poikiloderma With Neutropenia |
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Splenomegaly, Leukopenia, Neutropenia |
OMIM:604173 |
Congenital Disorder Of Glycosylation, Type Iic |
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Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Shwachman-Diamond Syndrome 2 |
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Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine... |
OMIM:617941 |
Adult-Onset Still Disease |
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Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Hepatitis, B... |
ORPHA:829 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
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Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
OMIM:615952 |
Fanconi Anemia, Complementation Group C |
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Pancytopenia, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Anemia, Bone marrow hypocellul... |
OMIM:227645 |
Aspergillosis |
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Hepatitis, Eosinophilia, Neutropenia |
ORPHA:1163 |
Autoimmune Lymphoproliferative Syndrome |
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Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Fusariosis |
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Brain abscess, Lung abscess, Abnormality of the spleen, Peritonitis, Abnormality of the liver, Gr... |
ORPHA:228119 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in presence o... |
ORPHA:37042 |
3-Methylglutaconic Aciduria, Type Viib |
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Leukopenia, 3-Methylglutaconic aciduria, Neutropenia, Hepatic steatosis, Thrombocytopenia |
OMIM:616271 |
Cartilage-Hair Hypoplasia |
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Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Tubulo... |
OMIM:607944 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
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Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Kikuchi-Fujimoto Disease |
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Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Lymphadenopath... |
ORPHA:50918 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... |
OMIM:277400 |
Agammaglobulinemia 1, Autosomal Recessive |
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B lymphocytopenia, Rectal abscess, Neutropenia |
OMIM:601495 |
Fanconi Anemia, Complementation Group D2 |
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Pancytopenia, Ectopic kidney, Annular pancreas, Reticulocytopenia, Horseshoe kidney, Micropenis, ... |
OMIM:227646 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Renal insufficiency, Eosinophilia, Hepatitis, Lymphadenopathy, Tubulointerstitial nephritis, Neph... |
ORPHA:139402 |
Relapsing Fever |
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Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Hematuria, Acute kidney injury, Thrombo... |
ORPHA:91547 |
Agammaglobulinemia, X-Linked |
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Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp... |
OMIM:300755 |
Pearson Syndrome |
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Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Renal insufficiency, Proteinuri... |
ORPHA:699 |
Khan-Khan-Katsanis Syndrome |
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Ureteral duplication, Renal hypoplasia, Renal cyst, Neutropenia, Vesicoureteral reflux, Lymphopen... |
OMIM:618460 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
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Renal tubular acidosis, Hypospadias, Neutropenia |
OMIM:615471 |
Vici Syndrome |
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Left ventricular hypertrophy, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, Neutrope... |
OMIM:242840 |
Wiskott-Aldrich Syndrome |
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Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
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Nephrocalcinosis, Neutropenia |
OMIM:618005 |
Diamond-Blackfan Anemia |
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Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopen... |
ORPHA:124 |
Leigh Syndrome |
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Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Renal tubular dysfunction, Ren... |
ORPHA:506 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy |
OMIM:617099 |
Whim Syndrome |
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Lymphadenitis, Lymphopenia, Abnormal neutrophil morphology, Neutropenia |
ORPHA:51636 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
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Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Neutropenia in presence of anti-ne... |
ORPHA:228426 |
Glycogen Storage Disease Ic |
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Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Chronic pancreatitis, Hematur... |
OMIM:232240 |
Toxic Epidermal Necrolysis |
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Renal insufficiency, Dysuria, Abnormality of the urethra, Anemia, Neutropenia, Pancreatitis, Thro... |
ORPHA:537 |
Psoriasis 14, Pustular |
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Leukocytosis, Neutrophilia, Cholangitis |
OMIM:614204 |
Saul-Wilson Syndrome |
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Neutropenia |
OMIM:618150 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hepatomegaly, Proteinuria, Chronic neutropenia, Hepatocellular adenoma, Stage 5 chronic kidney di... |
ORPHA:79259 |
Pediatric-Onset Graves Disease |
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Hepatomegaly, Splenomegaly, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Throm... |
ORPHA:525731 |
Hyper-Igd Syndrome |
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Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Ren... |
OMIM:260920 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Renal insufficiency, Ketonuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Jaundice, Methyl... |
ORPHA:79282 |
Cryptogenic Organizing Pneumonia |
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Leukocytosis, Neutrophilia |
ORPHA:1302 |
Cohen Syndrome |
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Neutropenia |
ORPHA:193 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Functional abnormality of the bladder, ... |
ORPHA:391487 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Splenomegaly, Neutrophilia, Abscess, Hepatomegaly |
OMIM:612852 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Renal hypoplasia, Persistenc... |
OMIM:105650 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... |
OMIM:617718 |
Cartilage-Hair Hypoplasia |
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Hepatomegaly, Abnormality of the pancreas, Mucopolysacchariduria, Neutropenia, Anemia |
ORPHA:175 |
Zygomycosis |
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Brain abscess, Renal insufficiency, Mediastinal lymphadenopathy, Peritonitis, Hepatitis, Neutrope... |
ORPHA:73263 |
Trichothiodystrophy |
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Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia |
ORPHA:33364 |
Selective Igm Deficiency |
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Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... |
ORPHA:331235 |
X-Linked Intellectual Disability, Nascimento Type |
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Recurrent cutaneous abscess formation, Hypospadias, Neutropenia, Vesicoureteral reflux, Micropenis |
ORPHA:163956 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
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Urinary retention, Neutropenia |
OMIM:617799 |
Herpes Simplex Virus Encephalitis |
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Leukocytosis, Neutrophilia |
ORPHA:1930 |
Rothmund-Thomson Syndrome |
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Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:2909 |
Hermansky-Pudlak Syndrome |
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Renal insufficiency, Neutropenia |
ORPHA:79430 |
Rothmund-Thomson Syndrome Type 1 |
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Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:221008 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... |
OMIM:301074 |
Rothmund-Thomson Syndrome Type 2 |
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Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:221016 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Bifid ureter, Enlarged ... |
ORPHA:500095 |
Familial Mediterranean Fever |
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Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis, Stage 5 chronic kidney disea... |
OMIM:249100 |
3-Methylglutaconic Aciduria, Type Viii |
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3-Methylglutaconic aciduria, Jaundice, 3-Methylglutaric aciduria, Neutropenia |
OMIM:617248 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
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Neutropenia |
OMIM:271510 |
Thauvin-Robinet-Faivre Syndrome |
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Transient neutropenia, Renal cyst, Bifid ureter |
OMIM:617107 |
Idiopathic Hypereosinophilic Syndrome |
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Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocyto... |
ORPHA:3260 |
Pneumocystosis |
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Abnormal neutrophil count |
ORPHA:723 |
Sweet Syndrome |
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Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... |
ORPHA:3243 |
Aspartylglucosaminuria |
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Hepatomegaly, Aspartylglucosaminuria, Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Neutropenia, Mo... |
ORPHA:95455 |
Liver Disease, Severe Congenital |
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Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iro... |
OMIM:619991 |
Sponastrime Dysplasia |
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Hypospadias, Neutropenia |
ORPHA:93357 |
Yellow Fever |
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Acute pancreatitis, Neutrophilia, Anuria, Renal insufficiency, Jaundice, Leukocytosis, Pancreatic... |
ORPHA:99829 |
Deafness, Autosomal Recessive 112 |
|
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OMIM:618257 |