Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Immunodeficiency 7 |
|
Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Kimura Disease |
|
Lymphadenopathy, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Halothane Hepatitis |
|
Viral hepatitis, Eosinophilia, Hepatitis, Jaundice |
OMIM:234350 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Leukocytosis, Enlarged tonsils |
ORPHA:168621 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Candidiasis, Familial, 2 |
|
Lymphadenopathy, Hypereosinophilia |
OMIM:212050 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
Eosinophil Peroxidase Deficiency |
|
Abnormal eosinophil morphology |
OMIM:261500 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
Cinca Syndrome |
|
Leukocytosis, Lymphadenopathy, Anemia, Papilledema, Hepatosplenomegaly, Eosinophilia |
OMIM:607115 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Myelolymphatic Insufficiency |
|
Hyposegmentation of neutrophil nuclei, Leukopenia |
OMIM:310350 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Omenn Syndrome |
|
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... |
OMIM:603554 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia |
OMIM:267500 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Lymphadenopathy, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, L... |
ORPHA:169154 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia |
OMIM:243700 |
Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... |
OMIM:615897 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... |
OMIM:245480 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatosplenomegaly, Eosinophilia, Hepatic cysts, Eosinophilic liver infiltration |
OMIM:618999 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells,... |
ORPHA:331206 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Abnormal macular morp... |
OMIM:607616 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Hepatitis, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinop... |
ORPHA:169160 |
Roifman Syndrome |
|
Hepatomegaly, Lymphadenopathy, Retinal dystrophy, Splenomegaly, Eosinophilia |
OMIM:616651 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly |
OMIM:618394 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Omenn Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly... |
ORPHA:39041 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Lipemia retinalis, Splenomegaly |
OMIM:615947 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Eosinophilia |
OMIM:618282 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Normo... |
ORPHA:98849 |
Roifman Syndrome |
|
Lymphadenopathy, Retinal dystrophy, Hepatosplenomegaly, Eosinophilia |
ORPHA:353298 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenopathy, Lymphadenitis, Absence of CD8-positive T cells, Abnormality of the lymph nodes, ... |
ORPHA:911 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... |
ORPHA:486 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia |
OMIM:617237 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, S... |
OMIM:617514 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia |
OMIM:618092 |
Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia |
OMIM:608898 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia, Pigmentary retinopathy |
OMIM:266130 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eosinophilia |
OMIM:618523 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Hepatitis, Anemia, Autoimmune thr... |
OMIM:304790 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... |
OMIM:603552 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eosinophilia |
OMIM:147060 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia, Ascites |
ORPHA:2070 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Hepatomegaly, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasi... |
OMIM:102700 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... |
OMIM:613673 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Retinal Venous Beading |
|
Neutropenia, Retinal infarction, Retinal neovascularization, Vitreous hemorrhage, Abnormal distri... |
OMIM:180080 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia |
OMIM:613501 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:618495 |
Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
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 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Cyclic Neutropenia |
|
Peritonitis, Lymphadenopathy, Perianal abscess, Lymphopenia, Cyclic neutropenia, Recurrent tonsil... |
ORPHA:2686 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... |
OMIM:312700 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:617388 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:100024 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia |
ORPHA:90045 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Retinopathy, Thrombocytopenia, Sea-blue ... |
ORPHA:158029 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Splenomegaly |
OMIM:602271 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Abnormality of the optic nerve, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone... |
ORPHA:3226 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Hepatomegaly, Optic disc pallor, Anemia, Splenomegaly, Hepatosplenomegaly, Reticul... |
OMIM:611490 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Optic atrophy, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia |
ORPHA:859 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia |
ORPHA:2902 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Immunodeficiency 13 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... |
OMIM:612840 |
Cystic Echinococcosis |
|
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Abscess, Hepatic cysts... |
ORPHA:400 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:614480 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... |
ORPHA:98826 |
Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Acute myeloid leukemia, Bone marrow hypocellularity |
ORPHA:98827 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... |
OMIM:300853 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... |
OMIM:224120 |
Spherocytosis, Type 5 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612690 |
Combined Saposin Deficiency |
|
Optic atrophy, Hepatomegaly, Splenomegaly |
OMIM:611721 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Lymphadenitis, Abnormally low T cell receptor excisio... |
OMIM:618986 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Aspergillosis |
|
Vitritis, Eosinophilia, Hepatitis, Neutropenia |
ORPHA:1163 |
Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Splenomega... |
OMIM:209950 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:613101 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... |
OMIM:618534 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Pan... |
OMIM:308240 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, B lymphocytopenia, Lymphopenia, T lymphocytopenia, Absence of lymph node germinal... |
ORPHA:277 |
Sandhoff Disease |
|
Hepatomegaly, Cherry red spot of the macula, Splenomegaly |
ORPHA:796 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphadenopathy, Eosinophilia, Lymphocytosis, Hepatitis |
ORPHA:139402 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Hepatic cysts, Lymphopenia |
OMIM:617425 |
Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... |
ORPHA:766 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia |
OMIM:613502 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Eosinophilia |
ORPHA:75566 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:37748 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... |
ORPHA:98848 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Lymphopenia, Splenomegaly |
OMIM:605309 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis |
ORPHA:2688 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
Incontinentia Pigmenti |
|
Leukocytosis, Optic atrophy, Hypoplasia of the fovea, Retinal vascular proliferation, Retinal det... |
OMIM:308300 |
Immunodeficiency 23 |
|
Neutropenia, Abscess, Lymphopenia, Eosinophilia, Hemolytic anemia |
OMIM:615816 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia |
OMIM:598500 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity |
OMIM:617243 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia |
ORPHA:79312 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice |
ORPHA:79477 |
Spherocytosis, Type 4 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Hemochromatosis, Type 3 |
|
Anemia, Neutropenia, Lymphopenia, Cirrhosis |
OMIM:604250 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia |
OMIM:612527 |
Hypobetalipoproteinemia, Familial, 1 |
|
Acanthocytosis, Retinal degeneration, Rod-cone dystrophy |
OMIM:615558 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:185000 |
Alveolar Echinococcosis |
|
Cholangitis, Biliary cirrhosis, Pancreatic cysts, Abnormality of mesentery morphology, Hepatic cy... |
ORPHA:284 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Idiopathic Aplastic Anemia |
|
Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thrombocytopen... |
ORPHA:88 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Igg4-Related Aortitis |
|
Hypereosinophilia |
ORPHA:449400 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... |
OMIM:616860 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:235700 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis |
OMIM:300635 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti... |
OMIM:300908 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:100025 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:616649 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
Sickle Cell Anemia |
|
Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Retinopathy, Increased re... |
OMIM:603903 |
Galactosemia Iii |
|
Jaundice, Hepatomegaly, Splenomegaly |
OMIM:230350 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis |
OMIM:271500 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:182900 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly |
OMIM:314050 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Neutropenia |
OMIM:618752 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Pigment gallstones, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... |
OMIM:613470 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnor... |
ORPHA:54251 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... |
OMIM:615122 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly |
OMIM:616005 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Splenomegaly, Acute ... |
ORPHA:158057 |
Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:507 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis |
OMIM:613313 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impa... |
OMIM:618935 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia |
OMIM:619632 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Chorioretinal coloboma, Lymphopenia |
ORPHA:1116 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... |
ORPHA:86843 |
Idiopathic Hypereosinophilic Syndrome |
|
Leukocytosis, Thrombocytosis, Cholangitis, Portal fibrosis, Chronic hepatitis, Anemia, Pancreatit... |
ORPHA:3260 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... |
OMIM:617780 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Dec... |
OMIM:613011 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Igg4-Related Pachymeningitis |
|
Lymphadenitis, Abnormality of the optic nerve, Eosinophilia, Pancreatitis |
ORPHA:449427 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Poikiloderma With Neutropenia |
|
Neutropenia, Splenomegaly |
OMIM:604173 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia |
ORPHA:2314 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:610333 |
Immunodeficiency 68 |
|
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:2584 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Lipogranulomatosis, Cherry red spot of the macula, Splenomegaly |
OMIM:228000 |
Harderoporphyria |
|
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:618892 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormal... |
ORPHA:79301 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Optic atrophy, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Babesiosis |
|
Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Jaundice |
ORPHA:108 |
Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly |
OMIM:611804 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... |
OMIM:109270 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly |
OMIM:618398 |
Immunodeficiency 54 |
|
Lymphadenopathy, Reduced natural killer cell count, Hepatomegaly, Splenomegaly |
OMIM:609981 |
Immunodeficiency 31C |
|
Lymphopenia, Autoimmune hemolytic anemia |
OMIM:614162 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Portal hyp... |
OMIM:616278 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia |
OMIM:158310 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Leukemia, Lymphadenopathy, Anemia, Abnormal... |
ORPHA:98850 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:616719 |
Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly |
ORPHA:172 |
Cinca Syndrome |
|
Leukocytosis, Hepatomegaly, Retrobulbar optic neuritis, Lymphadenopathy, Anemia, Pseudopapilledem... |
ORPHA:1451 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:231000 |
Adult-Onset Still Disease |
|
Leukocytosis, Hepatomegaly, Hepatitis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia, G... |
ORPHA:829 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice |
OMIM:266200 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Jaundice |
OMIM:619658 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Griscelli Syndrome |
|
Hepatomegaly, Leukopenia, Ascites, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splen... |
ORPHA:381 |
Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly |
ORPHA:545 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess |
OMIM:607676 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly |
OMIM:607271 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
Immunodeficiency 32B |
|
Splenomegaly |
OMIM:226990 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Decreased p... |
ORPHA:508533 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Hepatosplenomegaly, Aplasia of the thymus, Lymphopenia |
OMIM:242700 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Cholestasis, Splenomegaly |
OMIM:105200 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Thrombocytopenia, He... |
ORPHA:158061 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice |
OMIM:214900 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... |
OMIM:619463 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cherry red spot of the macula, Ascites, Vacuolated lymphocytes, Bone-marrow foam ce... |
OMIM:256550 |
Beta-Thalassemia |
|
Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Microcytic an... |
ORPHA:848 |
Incontinentia Pigmenti |
|
Retinal vascular proliferation, Retinal detachment, Eosinophilia, Abnormal chorioretinal morpholo... |
ORPHA:464 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Neutropenia, Leukopenia, Ocular albinism, Lymphadenopathy, Abnormal dense granules,... |
OMIM:214500 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia |
OMIM:616738 |
Late-Onset Isolated Acth Deficiency |
|
Macrocytic anemia, Eosinophilia, Hepatitis, Normocytic anemia |
ORPHA:199299 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia |
ORPHA:183 |
Thrombocytopenia-Absent Radius Syndrome |
|
Leukocytosis, Pancreatic cysts, Anemia, Hepatosplenomegaly, Thrombocytopenia, Eosinophilia |
OMIM:274000 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune... |
OMIM:616100 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... |
OMIM:194380 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Ascites, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly |
OMIM:269920 |
Coproporphyria, Hereditary |
|
Jaundice, Hepatomegaly, Splenomegaly |
OMIM:121300 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis, Pancreatic calcification, Recurrent pancreatitis, Jaundice |
ORPHA:676 |
Hepatoportal Sclerosis |
|
Leukopenia, Hepatocellular carcinoma, Ascites, Anemia, Nodular regenerative hyperplasia of liver,... |
ORPHA:64743 |
Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... |
OMIM:619510 |
Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis |
OMIM:616217 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid h... |
OMIM:612541 |
Coccidioidomycosis |
|
Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymphadenopathy, Abscess, Pa... |
ORPHA:228123 |
Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Anemia, Splenomegaly |
OMIM:618107 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Monocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, H... |
OMIM:619644 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Lymphatic Filariasis |
|
Lymphangiectasis, Lymphadenopathy, Lymphadenitis, Abnormality of the lymphatic system, Hypereosin... |
ORPHA:2035 |
Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia, Cervical lymph... |
ORPHA:514 |
Wolman Disease |
|
Hepatomegaly, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly |
ORPHA:75233 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestatic liver disease, Hepatosplenomegaly, Prolonged n... |
OMIM:616828 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... |
ORPHA:100026 |
Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
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 |
Psoriasis 14, Pustular |
|
Leukocytosis, Cholangitis, Neutrophilia |
OMIM:614204 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Abnormality of retinal pigmentation, Anemia, Splenomegaly, Thrombocytopenia, Jaundice |
ORPHA:290 |
Aicardi-Goutieres Syndrome 7 |
|
Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615846 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Retinal hemorrhage, Abnormal mean corpuscular volume, Bone marrow hypocellularity, ... |
ORPHA:86839 |
Hyper-Igd Syndrome |
|
Leukocytosis, Optic disc pallor, Lymphadenopathy, Lymphadenitis, Rod-cone dystrophy, Splenomegaly... |
OMIM:260920 |
Cold Agglutinin Disease |
|
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly |
ORPHA:56425 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombocytopenia |
OMIM:616050 |
Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Bone marrow hypocellul... |
ORPHA:101096 |
Sialidosis Type 2 |
|
Hepatomegaly, Ascites, Abnormal macular morphology, Splenomegaly |
ORPHA:87876 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Lymphadenopathy, Retroperitoneal fibrosis, Abnormal pancreas morphology, Eosinophilia |
ORPHA:449432 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:612526 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:75234 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Ascites, Splenomegaly |
ORPHA:1046 |
Gaucher Disease, Type Ii |
|
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly |
OMIM:230900 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Biliary cirrhosis, Portal hypertension, Scler... |
OMIM:617394 |
Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormality of the liver, Panc... |
ORPHA:398124 |
Gaucher Disease, Type I |
|
Hepatomegaly, Macular atrophy, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia |
OMIM:230800 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... |
OMIM:278000 |
Letterer-Siwe Disease |
|
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Jaundice |
OMIM:246400 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Elevated hepatic iron concentration, Hepatocel... |
ORPHA:231222 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy, Leukocytosis, Neutrophilia, Increased proportion of CD4-positive T cells |
OMIM:617099 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Hepatomegaly, Optic disc pallor, Ascites, Anemia, Decreased osteoclast count, Sple... |
OMIM:259720 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Neutropenia, Chronic hepatitis, Sclerosing cholangitis, Hepatitis, Splenomegaly, Ci... |
OMIM:308230 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Scleroderma |
|
Hypereosinophilia |
ORPHA:801 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Cherry red spot of the macula, Ascites, Lymphadenopathy, Bone-marrow foam cells, Sp... |
OMIM:257200 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:611881 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Intrahepatic cho... |
OMIM:602347 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl... |
ORPHA:1414 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq... |
OMIM:612714 |
Felty Syndrome |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Bone marrow h... |
ORPHA:47612 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Igg4-Related Ophthalmic Disease |
|
Cholangitis, Abnormality of the optic nerve, Lymphadenopathy, Retroperitoneal fibrosis, Pancreati... |
ORPHA:449563 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Hepatomegaly, Splenomegaly |
OMIM:602390 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Lymphope... |
OMIM:600802 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Lymphadenitis, Anemia, Cardiomegaly, Congenital thrombocytopenia |
OMIM:618886 |
Hereditary Elliptocytosis |
|
Congenital hemolytic anemia, Prolonged neonatal jaundice, Stomatocytosis, Cholelithiasis, Splenom... |
ORPHA:288 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Anemia, Neutrophilia, Thrombocytopenia, Jaundice |
ORPHA:91547 |
Sézary Syndrome |
|
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:3162 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly |
OMIM:240500 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Pure red cell aplasi... |
OMIM:613179 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distribution, Pancytopeni... |
ORPHA:158048 |
Fetal Gaucher Disease |
|
Abnormality of the spleen, Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia |
ORPHA:85212 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... |
OMIM:210250 |
X-Linked Lymphoproliferative Disease |
|
Lymphadenopathy, Splenomegaly, Absent natural killer cells, Hepatosplenomegaly, Lymphocytosis, Pa... |
ORPHA:2442 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormality of the tonsils, Splenomegaly |
ORPHA:93476 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Jaundice, Hepatomegaly, Hemolytic anemia, Splenomegaly |
OMIM:608885 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Neutropenia, Ocular albinism, Splenomegaly |
OMIM:617050 |
Igg4-Related Kidney Disease |
|
Abnormality of mesentery morphology, Lymphadenopathy, Lymphadenitis, Retroperitoneal fibrosis, Pa... |
ORPHA:449395 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Lipemia retinalis, Splenomegaly |
OMIM:207750 |
Essential Thrombocythemia |
|
Abnormal platelet morphology, Acute leukemia, Splenomegaly |
ORPHA:3318 |
Caroli Disease |
|
Leukocytosis, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... |
ORPHA:53035 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytop... |
ORPHA:760 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Neutropenia, Ocular albinism, Enlarged platelet dense granules, Absent platelet den... |
OMIM:608233 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Congenital Enterovirus Infection |
|
Fetal ascites, Leukocytosis, Neutropenia, Leukopenia, Hepatitis, Anemia, Abnormal macrophage morp... |
ORPHA:292 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Liver abscess |
ORPHA:379 |
Classic Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly |
ORPHA:391 |
Ataxia-Telangiectasia |
|
Lymphopenia, Aplasia/Hypoplasia of the thymus |
ORPHA:100 |
Triosephosphate Isomerase Deficiency |
|
Optic disc pallor, Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic ... |
OMIM:615512 |
Icf Syndrome |
|
Abnormality of neutrophils, Anemia, Lymphopenia |
ORPHA:2268 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Jaundice |
OMIM:613812 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Sideroblastic anemia, Splenomeg... |
OMIM:616084 |
Hereditary Spherocytosis |
|
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Extramedullary hematopoiesis, Increased mean ... |
ORPHA:822 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Retinal degeneration, Hepatic fibrosis, Splenomegaly, Cholestasis |
OMIM:615630 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Jaundice, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90033 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:619183 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Transaldolase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp... |
OMIM:606003 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly |
OMIM:614699 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Neutrophilia, Abscess, Hepatomegaly, Splenomegaly |
OMIM:612852 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Leukopenia, Ascites, Biliary tract obstruction, Anemia, Splenomegaly, Cirrhosis, Hy... |
ORPHA:77259 |
Mucopolysaccharidosis-Plus Syndrome |
|
Optic atrophy, Hepatomegaly, Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Spleno... |
OMIM:617303 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... |
OMIM:233700 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Neutropenia, Leukopenia, Lymphadenopathy, Anemia, Pancytopenia, Thrombocytopenia |
ORPHA:520 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Ly... |
OMIM:614700 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural kil... |
ORPHA:35078 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Cholestatic liver disease, Thro... |
ORPHA:540 |
Wilson Disease |
|
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Thr... |
ORPHA:905 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod... |
OMIM:251880 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly |
OMIM:153670 |
Niemann-Pick Disease, Type C1 |
|
Fetal ascites, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Prolonged neonatal jaundice, S... |
OMIM:257220 |
Majeed Syndrome |
|
Leukocytosis, Hepatomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Splenom... |
ORPHA:77297 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Neutropenia, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:242900 |
Sarcoidosis |
|
Portal hypertension, Hepatomegaly, Leukopenia, Increased T cell count, Lymphadenopathy, Anemia, A... |
ORPHA:797 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... |
OMIM:233690 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia... |
OMIM:603553 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosis |
OMIM:613027 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukocytosis, Thrombocytosis, Optic atrophy, Hepatomegaly, Leukopenia, Lymphadenopathy, Bone marr... |
OMIM:615688 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:85414 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... |
OMIM:211600 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Ascites, Splenomegaly |
ORPHA:2414 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:235555 |
Staphylococcal Necrotizing Pneumonia |
|
Leukocytosis, Neutrophilia, Leukopenia |
ORPHA:36238 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytos... |
OMIM:267700 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly |
OMIM:139090 |
Osteopetrosis, Autosomal Recessive 1 |
|
Optic atrophy, Hepatomegaly, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:259700 |
Cartilage-Hair Hypoplasia |
|
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... |
OMIM:250250 |
Niemann-Pick Disease, Type C2 |
|
Fetal ascites, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Prolonged neonatal jaundice, S... |
OMIM:607625 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Lymphopenia, Ret... |
ORPHA:508542 |
Primary Intestinal Lymphangiectasia |
|
Ascites, Abnormal lymphatic vessel morphology, Anemia, Reduced proportion of CD4+ effector memory... |
ORPHA:90362 |
Fusariosis |
|
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Peritonitis, Abnormality of ... |
ORPHA:228119 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Leukopenia, Paratracheal lymphadenopathy, Anemia, Lymphopenia, Follicular hyperpl... |
OMIM:615934 |
Legionnaires Disease |
|
Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Pancreatitis, Splenomegaly, Lymphopenia,... |
ORPHA:549 |
Wiskott-Aldrich Syndrome |
|
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... |
ORPHA:906 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly, Eosinophilia |
ORPHA:75565 |
Hyperlipoproteinemia, Type I |
|
Lipemia retinalis, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Jaundice |
OMIM:238600 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Cholecystitis, Portal hypertension, ... |
ORPHA:131 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Normocytic anemia, Leukemia, Lymphadenopathy, Splenomegaly, Abnormal retinal vascul... |
ORPHA:33226 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Thrombocytopenia, Hemolytic anemia |
ORPHA:169090 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Intrahepatic cholest... |
OMIM:607765 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia |
ORPHA:391307 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Hepatitis, Acute pancreatitis, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Common Variable Immunodeficiency |
|
Lymphadenopathy, Splenomegaly, Abnormality of the liver, Autoimmune thrombocytopenia, Lymphopenia... |
ORPHA:1572 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Ascites, Hepatocellular carcinoma, Cardiomegaly, Splenomegaly, Cirrhosis |
OMIM:235200 |
Caroli Syndrome |
|
Abnormality of the intrahepatic bile duct, Leukocytosis, Cholangitis, Hepatomegaly, Cholangiocarc... |
ORPHA:480520 |
Gm1-Gangliosidosis, Type I |
|
Vacuolated lymphocytes, Hepatomegaly, Cherry red spot of the macula, Splenomegaly |
OMIM:230500 |
Familial Mediterranean Fever |
|
Leukocytosis, Hepatomegaly, Peritonitis, Splenomegaly, Neutrophilia |
OMIM:249100 |
Chédiak-Higashi Syndrome |
|
Abnormal natural killer cell morphology, Abnormality of retinal pigmentation, Neutropenia, Thromb... |
ORPHA:167 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Rod-cone dystrophy, Splenomegaly |
OMIM:252930 |
|