Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... |
OMIM:616860 |
Beta-Thalassemia Intermedia |
|
Splenomegaly, Reduced bone mineral density, Hepatosplenomegaly, Jaundice, Anemia of inadequate pr... |
ORPHA:231222 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... |
OMIM:615285 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Elevated hepatic iro... |
ORPHA:300298 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Abnormality of iron homeostasis, Anemia, Splenomegaly |
ORPHA:75563 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Hemochromatosis, Type 2B |
|
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Sp... |
OMIM:613313 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocy... |
OMIM:608898 |
Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration, Anemia, Abnormal circulating copper concentration |
OMIM:121270 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithi... |
ORPHA:848 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Iron deficiency anemia, Hyperbilirubinemia, Sple... |
OMIM:616278 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
Porphyria Cutanea Tarda |
|
Increased serum iron, Abnormal erythrocyte enzyme level, Elevated hepatic iron concentration, Por... |
ORPHA:101330 |
Gracile Syndrome |
|
Decreased transferrin saturation, Elevated hepatic iron concentration, Cirrhosis, Increased circu... |
ORPHA:53693 |
Familial Benign Copper Deficiency |
|
Decreased circulating copper concentration, Anemia |
ORPHA:1551 |
Aceruloplasminemia |
|
Aceruloplasminemia, Hypochromic microcytic anemia, Elevated hepatic iron concentration, Refractor... |
ORPHA:48818 |
Hemochromatosis, Type 3 |
|
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Cirrhosis, Increased ... |
OMIM:604250 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin ... |
OMIM:603552 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Ascites, Osteopetrosis, Anemia, Decreased osteoclast count, Hyperbilirubinemia, Spl... |
OMIM:259720 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... |
OMIM:613101 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Osteopetrosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, ... |
OMIM:612840 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Candidiasis, Familial, 2 |
|
Lymphadenopathy, Increased circulating IgE level, Hypereosinophilia, Decreased serum iron |
OMIM:212050 |
Immunodeficiency 47 |
|
Decreased circulating antibody level, Splenomegaly, Accessory spleen, Decreased circulating total... |
OMIM:300972 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, B... |
OMIM:607616 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Anemia, Elevated transferrin saturation, Cirrhosis, Increased circulating ferritin ... |
OMIM:606069 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis, Copper accumulation in liver, Increased circulating copper concentr... |
ORPHA:209919 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Jaundice, Reticulocytosis,... |
OMIM:237800 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia, Hypocalcemia |
ORPHA:100025 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular ... |
ORPHA:231226 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Beta-Thalassemia Major |
|
Hepatomegaly, Abnormality of iron homeostasis, Anisopoikilocytosis, Hypochromic microcytic anemia... |
ORPHA:231214 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Po... |
OMIM:615234 |
Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Increased ... |
OMIM:209950 |
Hereditary Spherocytosis |
|
Hepatomegaly, Anemia, Hyperbilirubinemia, Cholelithiasis, Splenomegaly, Extramedullary hematopoie... |
ORPHA:822 |
Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia |
OMIM:619398 |
Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, A... |
OMIM:613673 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... |
ORPHA:79230 |
Hemochromatosis, Neonatal |
|
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... |
OMIM:231100 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Anemia, Splenomegaly, A... |
ORPHA:507 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis |
ORPHA:158025 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... |
OMIM:618963 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... |
ORPHA:2585 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice |
OMIM:312500 |
Wilson Disease |
|
Hemolytic anemia, Hepatomegaly, Hepatocellular carcinoma, Osteoporosis, Cirrhosis, Hepatic failur... |
OMIM:277900 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Gracile Syndrome |
|
Increased serum iron, Increased circulating ferritin concentration, Increased serum pyruvate, Cho... |
OMIM:603358 |
Neonatal Hemochromatosis |
|
Increased serum iron, Increased circulating ferritin concentration, Congenital hepatic fibrosis, ... |
ORPHA:446 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... |
ORPHA:79303 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hepatitis, Decreased circulating antibody level, Splenomegaly, Increased circulatin... |
OMIM:300635 |
Hemochromatosis, Type 2A |
|
Increased serum iron, Hepatomegaly, Splenomegaly, Cirrhosis, Increased circulating ferritin conce... |
OMIM:602390 |
Osteopetrosis, Autosomal Recessive 2 |
|
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedul... |
OMIM:259710 |
Benign Cephalic Histiocytosis |
|
Histiocytosis |
ORPHA:157997 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... |
ORPHA:98870 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Osteoporosis, Anemia, Splenomegaly, Increas... |
ORPHA:100024 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Reduced bone mineral density, Cholestasis, Hypocalcemia, Jaundice |
ORPHA:172 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypocholesterolemia, Anemia, Splenomegaly, Osteopenia, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Increased circulating antibody level, Autoimmune hem... |
OMIM:618495 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Mednik Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration, Decreased circulating cerul... |
ORPHA:171851 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Elevated hepatic transaminas... |
ORPHA:158057 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619658 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Aceruloplasminemia, Anemia, Decreased serum iron |
OMIM:604290 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anisopoikilocytosis, Myelofibrosis, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:617441 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Polycythemia, Hypermanganesemia, Cirrhosis, Decrea... |
OMIM:613280 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Reduced natural killer cell activity, Fulminant hepat... |
OMIM:308240 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Decreased liver func... |
ORPHA:158061 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Cog2-Cdg |
|
Decreased liver function, Decreased circulating copper concentration, Decreased circulating cerul... |
ORPHA:435934 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:1802 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Hyperlipoproteinemia, Splenomegaly |
OMIM:118830 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Decreased plasma carnitine, Anemia |
OMIM:611283 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Pancyto... |
OMIM:618398 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... |
OMIM:614480 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Bone marrow hypocel... |
OMIM:231095 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Leukopenia,... |
OMIM:267700 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... |
OMIM:616828 |
Immunodeficiency 48 |
|
Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly |
OMIM:269840 |
Hemochromatosis, Type 1 |
|
Increased serum iron, Hepatomegaly, Hepatocellular carcinoma, Ascites, Osteoporosis, Cardiomegaly... |
OMIM:235200 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Irida Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration |
ORPHA:209981 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... |
OMIM:616689 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly |
OMIM:615947 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, D... |
OMIM:617514 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Lymphaden... |
OMIM:603553 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating... |
OMIM:613011 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Fgfr2-Related Bent Bone Dysplasia |
|
Decreased calvarial ossification, Osteopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, I... |
ORPHA:313855 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedullary hematopoiesis, Cr... |
OMIM:259730 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas |
ORPHA:1195 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocellular carcinoma, Oste... |
ORPHA:465508 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
Harderoporphyria |
|
Hepatomegaly, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Splenomegaly, Increased c... |
OMIM:618892 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating IgM leve... |
ORPHA:37748 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Bone cyst, Anemia |
ORPHA:2668 |
Malaria |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia |
ORPHA:673 |
Atransferrinemia |
|
Abnormality of the liver, Atransferrinemia, Hypochromic anemia |
OMIM:209300 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Neutropenia, Hyperlipidemia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophago... |
ORPHA:79477 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia, Hepatomegaly, Ascites, Anemia, Thrombocytopenia |
ORPHA:2123 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Cholelithiasis, Splenomegaly, Nonsphe... |
OMIM:235700 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Decreased skull ossification, Abnormal hemoglobin |
ORPHA:3319 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Defective T cell proliferation, Lymphadenopa... |
OMIM:618534 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... |
OMIM:224120 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Reduced natural killer cell activity, Decreased circu... |
ORPHA:540 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Decreased circulating ferritin concentration, Polycythemia, Copper accumulation in ... |
ORPHA:309854 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell activity, Anemia, Splenomegaly, Reduced natural killer cell count, In... |
OMIM:616050 |
Galactosemia Iii |
|
Jaundice, Hepatomegaly, Hypergalactosemia, Splenomegaly |
OMIM:230350 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Portal hypertension, Dec... |
OMIM:278000 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, El... |
OMIM:616959 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Hepatomegaly, Splenomegaly, Hemolytic anemia, Jaundice |
OMIM:608885 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... |
OMIM:210250 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating copper concentration |
ORPHA:521411 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegaly, Hypertri... |
OMIM:612526 |
Hepatoportal Sclerosis |
|
Leukopenia, Hepatocellular carcinoma, Ascites, Anemia, Hyperbilirubinemia, Nodular regenerative h... |
ORPHA:64743 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnor... |
ORPHA:54251 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Ascites, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Hepat... |
OMIM:615122 |
Essential Thrombocythemia |
|
Myelofibrosis, Abnormal platelet morphology, Acute leukemia, Splenomegaly |
ORPHA:3318 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia |
OMIM:273680 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Decreased glucose-6-p... |
OMIM:300908 |
RosaĂŻ-Dorfman Disease |
|
Lymphadenopathy, Dysgammaglobulinemia, Anemia, Osteolysis |
ORPHA:158014 |
Castleman Disease |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Lymphadenopathy, Myelofibrosis, Anemia, Gene... |
ORPHA:160 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Myelofibrosis, Splenomegaly, Acute my... |
ORPHA:86843 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia... |
OMIM:185000 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Acute hepatic failure, Rickets of the lower... |
ORPHA:882 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia, Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... |
OMIM:182900 |
Rhabdoid Tumor |
|
Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia |
ORPHA:69077 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Myelofibrosis,... |
OMIM:139090 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch... |
OMIM:214900 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... |
OMIM:202700 |
Omenn Syndrome |
|
B lymphocytopenia, Hypoproteinemia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anem... |
OMIM:603554 |
Transaldolase Deficiency |
|
Abnormal circulating glutamine concentration, Anemia, Cirrhosis, Hepatosplenomegaly, Increased se... |
ORPHA:101028 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... |
OMIM:616649 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Hyperammonemia, Cirrhosis, Splen... |
OMIM:271500 |
Refractory Celiac Disease |
|
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Osteoporosis, Hypo... |
ORPHA:398063 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Monocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Acute hepatic failu... |
OMIM:619644 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
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 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocy... |
OMIM:611490 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Lymphadenopathy, De... |
OMIM:300853 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Osteoporosis, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated... |
ORPHA:79301 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hyperproteinemia, Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly,... |
ORPHA:158048 |
Hereditary Elliptocytosis |
|
Congenital hemolytic anemia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Stomatocyt... |
ORPHA:288 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... |
ORPHA:169079 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia, High nonceruloplasmin-bound serum copper |
ORPHA:457351 |
Acute Erythroid Leukemia |
|
Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia, Pancytopenia |
ORPHA:318 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Hyperammonemia, Splenomegaly, Thrombocytopenia |
ORPHA:79312 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Neutropenia, Chronic hepatitis, Sclerosing cholangitis, Decreased circulating IgA l... |
OMIM:308230 |
X-Linked Lymphoproliferative Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... |
ORPHA:2442 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Hyperlipidemia, Biliary tract abnormality, Abnormality of the lymph... |
ORPHA:1414 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Congenital Enterovirus Infection |
|
Fetal ascites, Leukocytosis, Neutropenia, Leukopenia, Hepatitis, Anemia, Hyperammonemia, Abnormal... |
ORPHA:292 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Ascites, Lymphadenopathy, Osteoporosis, Bone-marrow foam cells, Splenomegaly, Eleva... |
OMIM:257200 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Anemia, Osteopenia, Splenomegaly |
OMIM:618107 |
Fanconi Anemia, Complementation Group V |
|
Neutropenia, Anemia, Bone marrow hypocellularity, Elevated alpha-fetoprotein, Thrombocytopenia |
OMIM:617243 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Unconjugated hyperbilirubinemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecys... |
OMIM:266200 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Anemia, Hyperammonemia |
ORPHA:28 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Osteopenia, Calvarial hyperostosis, Exocrine pancre... |
OMIM:612714 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Jaundice, Ret... |
OMIM:109270 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Combined Saposin Deficiency |
|
Hepatomegaly, Abnormal glycosphingolipid metabolism, Splenomegaly |
OMIM:611721 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Abnormal lymphatic vessel morphology, Ascites, Decreased circulating IgA level, ... |
ORPHA:90362 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
Sandhoff Disease |
|
Hepatomegaly, Abnormal glycosphingolipid metabolism, Splenomegaly |
ORPHA:796 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Osteoporosis, Abnormal mast cell morphology, Splenomegaly, Increas... |
ORPHA:98848 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... |
ORPHA:98826 |
Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia, Abnormal circulating histidine concentration |
ORPHA:51208 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis |
ORPHA:139436 |
Cinca Syndrome |
|
Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia, Elevated circulating C-r... |
OMIM:607115 |
Syndromic Diarrhea |
|
Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet volume, Hepatomegaly, He... |
ORPHA:84064 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridemia, Hepatic failur... |
ORPHA:75234 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Ascites, Vacuolated lymphocytes, Cardiomegaly, Osteopenia, Splenomegaly, Conjugated... |
OMIM:269920 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
Gm1-Gangliosidosis, Type Ii |
|
Sea-blue histiocytosis |
OMIM:230600 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Splenomegaly, In... |
OMIM:259700 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia |
OMIM:615715 |
Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Rickets, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hem... |
OMIM:611590 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Pigment gallstones, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... |
OMIM:613470 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Elevated circulating C-reactive protein concentration, Splenomegaly |
OMIM:611762 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Splenomegaly, ... |
OMIM:607271 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Cirrhosis, Hepatomegaly, Elevated hepatic iron concentration |
OMIM:300868 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Abnormal macrophage morphology, Right ventricular hypertrophy, Elevated circulating creatine kina... |
ORPHA:353 |
Greenberg Dysplasia |
|
Hepatomegaly, Hepatic calcification, Absent or minimally ossified vertebral bodies, Costal cartil... |
OMIM:215140 |
Myelofibrosis |
|
Myeloproliferative disorder, Myelofibrosis, Splenomegaly |
OMIM:254450 |
Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo... |
OMIM:222470 |
Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... |
OMIM:187950 |
Hypophosphatasia |
|
Hypercalcemia, Craniosynostosis, Anemia |
ORPHA:436 |
Babesiosis |
|
Hepatomegaly, Leukopenia, Splenomegaly, Hepatic failure, Thrombocytopenia, Hemolytic anemia, Jaun... |
ORPHA:108 |
Cinca Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Abnormal granulocyte morphology, Splenomegal... |
ORPHA:1451 |
Griscelli Syndrome |
|
Hepatomegaly, Leukopenia, Ascites, Abnormal circulating lipid concentration, Lymphadenopathy, Hep... |
ORPHA:381 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Anemia |
OMIM:238700 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... |
OMIM:619041 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Hyperammonemia, Thrombocytopenia |
ORPHA:289916 |
Heme Oxygenase 1 Deficiency |
|
Thrombocytosis, Hepatomegaly, Elevated circulating C-reactive protein concentration, Asplenia, Co... |
OMIM:614034 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Cardiomegaly, Elevated hepatic transaminase, Thro... |
ORPHA:858 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod... |
OMIM:251880 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Leukemia, Lymphadenopathy, Osteoporosis, An... |
ORPHA:98850 |
Wolman Disease |
|
Hepatomegaly, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly, Hepatic failure |
ORPHA:75233 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Hepatomegaly, Leukopenia, Anemia, Pancreatitis, Hyperammonemia, Thrombocytopenia |
ORPHA:27 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Macrocytic anemia, Hyperalaninemia, Hyperprolinemia, Splenomegaly, Increased serum pyruvate |
OMIM:619046 |
X-Linked Agammaglobulinemia |
|
Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Abnormality of the lympha... |
ORPHA:47 |
Spherocytosis, Type 5 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612690 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thro... |
OMIM:610333 |
Trichohepatoenteric Syndrome 2 |
|
Cirrhosis, Hepatomegaly, Hepatitis, Decreased serum iron |
OMIM:614602 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Lysinuric Protein Intolerance |
|
Decreased circulating antibody level, Hyperglycinemia, Hyperammonemia, Increased circulating ferr... |
ORPHA:470 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Mediastinal lymphadenopathy, Anemia, Bone marrow hypocellularity, Osteopenia, Myeloid leukemia, C... |
OMIM:614742 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Elevated hepatic transaminase, Hypocholestero... |
OMIM:607765 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Osteomalacia, Tooth abscess |
ORPHA:89937 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Reticular Dysgenesis |
|
Leukopenia, Decreased circulating antibody level, Anemia, Aplasia/Hypoplasia of the thymus, Abnor... |
ORPHA:33355 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Hypocalcemic seizures, Decreased circulating IgA level, Osteopetrosis, Decreased ci... |
OMIM:612301 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Rickets, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with epi... |
OMIM:211600 |
Adult-Onset Still Disease |
|
Leukocytosis, Hepatomegaly, Abnormal circulating lipid concentration, Hepatitis, Bone marrow hypo... |
ORPHA:829 |
Proteus Syndrome |
|
Mandibular hyperostosis, Thin bony cortex, Lymphangioma, Splenomegaly, Calvarial hyperostosis, Fa... |
OMIM:176920 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphadenopathy, Decreased circulating IgA level, Decreased circulating IgG level, ... |
OMIM:616100 |
Aicardi-Goutieres Syndrome 7 |
|
Thrombocytopenia, Increased circulating antibody level, Hepatomegaly, Splenomegaly |
OMIM:615846 |
Lesch-Nyhan Syndrome |
|
Anemia, Hyperuricemia |
ORPHA:510 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Osteolysis, ... |
ORPHA:100026 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Lymphadenopathy, Increased circulating IgA level, Elevated circu... |
ORPHA:29073 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Leukopenia, Ascites, Biliary tract obstruction, Anemia, Splenomegaly, Cirrhosis, Os... |
ORPHA:77259 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine... |
OMIM:613179 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia, Hyperuricemia |
ORPHA:371 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil... |
OMIM:214500 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly |
OMIM:616719 |
Fanconi Anemia, Complementation Group T |
|
Pancytopenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity |
OMIM:616435 |
Intermediate Osteopetrosis |
|
Abnormality of bone mineral density, Generalized osteosclerosis, Osteosclerosis of the base of th... |
ORPHA:210110 |
Albers-Schönberg Osteopetrosis |
|
Generalized osteosclerosis, Anemia, Abnormal leukocyte morphology, Hypocalcemia |
ORPHA:53 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia |
ORPHA:3204 |
Gaucher Disease, Type Ii |
|
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly |
OMIM:230900 |
Bone Marrow Failure Syndrome 5 |
|
Decreased circulating antibody level, Anemia, Pure red cell aplasia |
OMIM:618165 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:611881 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Lymphadenopathy, Decreased circulating IgA level, Decreas... |
OMIM:240500 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly |
OMIM:314050 |
Immunodeficiency 46 |
|
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Ascites, Splenomegaly |
ORPHA:1046 |
Infantile Liver Failure Syndrome 1 |
|
Macrocytic anemia, Hepatomegaly, Anemia, Hepatic steatosis, Acute hepatic failure, Elevated hepat... |
OMIM:615438 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis |
OMIM:607665 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia, Ascites |
ORPHA:295 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Ascites, Anemia, Decreased liver function, Cholestasis, Hypoalbuminemia, Thrombocyt... |
OMIM:608104 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Chédiak-Higashi Syndrome |
|
Neutropenia, Abnormal platelet function, Lymphadenopathy, Splenomegaly, Increased circulating fer... |
ORPHA:167 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Niemann-Pick Disease, Type C2 |
|
Fetal ascites, Hepatomegaly, Abnormal circulating cholesterol concentration, Bone-marrow foam cel... |
OMIM:607625 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia |
OMIM:616871 |
Stormorken Syndrome |
|
Asplenia, Elevated circulating creatine kinase concentration, Anemia, Howell-Jolly bodies, Thromb... |
OMIM:185070 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Osteolysis involving bones of the feet, Splenomegaly, Lipogranulomatosis, Osteolyti... |
OMIM:228000 |
Poikiloderma With Neutropenia |
|
Elevated circulating creatine kinase concentration, Neutropenia, Splenomegaly |
OMIM:604173 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
Cold Agglutinin Disease |
|
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly |
ORPHA:56425 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Ascites, Nodular regenerative hyperplasia of liver, Splen... |
OMIM:619463 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating antibody level, Lympho... |
OMIM:617591 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Calvarial osteosclerosis, Hypomagnesemia, Decreased skull ossification, Hypocalcemia |
OMIM:244460 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Increased circulating IgA level, Increased circulating IgG level, Splenomegaly, Hyp... |
OMIM:617388 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Leukopenia, Anemia, Hyperuricemia, Hypomagnesemia, Thrombocytopenia |
OMIM:613845 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... |
OMIM:150550 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Cholelithiasis, Hyperuricemia, Reticulocytosis, Reduced erythrocyte 2,... |
OMIM:232800 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly |
ORPHA:90037 |
Hyperparathyroidism, Neonatal Severe |
|
Hypercalcemia, Hepatomegaly, Calcinosis, Anemia, Hypophosphatemia, Splenomegaly |
OMIM:239200 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Wilson Disease |
|
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acu... |
ORPHA:905 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly |
OMIM:605309 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, I... |
OMIM:601847 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly,... |
ORPHA:398124 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Leukopenia, Osteoporosis, Anemia, Pancreatitis, Splenomegaly, Hyperammonemia, Incre... |
OMIM:222700 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:2584 |
Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Hepatic failure, Splenomegaly |
ORPHA:664 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia, Hyperuricemia |
OMIM:617056 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Thrombocytopenia 6 |
|
Myelofibrosis, Thrombocytopenia, Osteoporosis |
OMIM:616937 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Anemia |
OMIM:616176 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impa... |
OMIM:618935 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Anemia, Hyperuricemia |
OMIM:613092 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:231000 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Osteoporosis, Increased serum zinc |
OMIM:601979 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reduced haptoglobin level, Hypochromia, Stomatocytosis, Hype... |
ORPHA:71275 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Lymphadenitis, Anemia, Cardiomegaly, Increased circulating ferritin concentration, ... |
OMIM:618886 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... |
OMIM:613027 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... |
OMIM:618394 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... |
ORPHA:91547 |
Coproporphyria, Hereditary |
|
Jaundice, Hepatomegaly, Splenomegaly |
OMIM:121300 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Elevated circulating creatine kinase concentrati... |
ORPHA:264580 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Decreased circulating antibody level, Hyperammonemia, Hyperthreoninemia, Hepat... |
ORPHA:247598 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperhomocystinemia, Schistocytosis, Episodic hemolytic anemia, Hyperbilirubinemia, Increased cir... |
OMIM:601775 |
Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... |
ORPHA:3226 |
Mastocytosis |
|
Hypercalcemia, Hepatomegaly, Acute leukemia, Chronic leukemia, Osteoporosis, Splenomegaly, Mastoc... |
ORPHA:98292 |
Felty Syndrome |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Bone marrow h... |
ORPHA:47612 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Portal fibrosis, Hypokalemia, Hepatic fibrosis, Anemia, Reduced... |
OMIM:619377 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, An... |
ORPHA:447 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly |
OMIM:608540 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Elevated hepatic transaminase, Hyperbilirubinemia, Splenomegaly, Hepatic failure, I... |
OMIM:235555 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly |
OMIM:611804 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the lymphatic system, Abnormal lymphocyte m... |
ORPHA:229717 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly |
ORPHA:79292 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia, Jaundice |
ORPHA:290 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Polycythemia Vera |
|
Hepatomegaly, Acute leukemia, Myelofibrosis, Splenomegaly, Portal hypertension |
ORPHA:729 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Hyperammonemia, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis... |
OMIM:618641 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Cholestasis, Splenomegaly |
OMIM:105200 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal circulating... |
ORPHA:86839 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Hepatomegaly, Abscess, Periostitis, Splenomegaly, Osteopenia, Neutrophilia, Elevated circulating ... |
OMIM:612852 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulating creatine kinase co... |
ORPHA:79240 |
Caroli Disease |
|
Leukocytosis, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... |
ORPHA:53035 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulating c... |
ORPHA:370 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Hepatomegaly, Decreased circulating IgA level, Reduced red cell adenosine deam... |
OMIM:102700 |
Transaldolase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Decrease... |
OMIM:606003 |
Idiopathic Hypereosinophilic Syndrome |
|
Leukocytosis, Thrombocytosis, Cholangitis, Portal fibrosis, Elevated hepatic transaminase, Chroni... |
ORPHA:3260 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Normo... |
ORPHA:98849 |
Neuraminidase Deficiency |
|
Hepatomegaly, Ascites, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Card... |
OMIM:256550 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Leukocytosis, Increased circulating IgD level, Normocytic hypoplastic a... |
OMIM:610377 |
Tempi Syndrome |
|
Polycythemia, Increased hematocrit, Increased circulating IgG level, Ascites |
ORPHA:284227 |
Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Decreased serum zinc, Hepatic steatosis, Hepatosplenomegaly, Cholestasis, Hepat... |
ORPHA:541423 |
Niemann-Pick Disease, Type C1 |
|
Fetal ascites, Hepatomegaly, Bone-marrow foam cells, Fatal liver failure in infancy, Splenomegaly... |
OMIM:257220 |
Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly |
ORPHA:545 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly |
ORPHA:85414 |
Bleeding Disorder, Platelet-Type, 17 |
|
Absence of alpha granules, Thrombocytopenia, Myelofibrosis |
OMIM:187900 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Ascites, Anemia, Hypoalbuminemia, Eosinophilia, Elevated circulating C-reactive pro... |
ORPHA:2070 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase, Bile duct proliferation, Splenomega... |
OMIM:602347 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Osteolysis |
ORPHA:391 |
Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly |
OMIM:602271 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum zinc, Anemia, Decreased serum iron, Abnormal circulating selenium concentration, ... |
ORPHA:89842 |
Omenn Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly... |
ORPHA:39041 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Neutropenia, Methylmalonic acidemia, Anemia, Hyperglycinemia, Hyperammonemia, Pancy... |
OMIM:251110 |
Propionic Acidemia |
|
Hepatomegaly, Neutropenia, Osteoporosis, Anemia, Pancreatitis, Hyperglycinemia, Hyperammonemia, P... |
OMIM:606054 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Hemophagocytosis |
ORPHA:86884 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, ... |
OMIM:614576 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... |
ORPHA:231111 |
Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Increased total bilirubin, Acute hepatiti... |
ORPHA:2137 |
Coach Syndrome 3 |
|
Anemia, Portal fibrosis |
OMIM:619113 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Leukopenia, Increased circulating IgA level, Paratracheal lymphadenopathy, Anemia... |
OMIM:615934 |
Prolidase Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Elevated circulating aspartate aminotransferase concentration... |
OMIM:170100 |
Sialidosis Type 2 |
|
Hepatomegaly, Osteoporosis, Ascites, Splenomegaly |
ORPHA:87876 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... |
OMIM:617394 |
Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Amed Syndrome, Digenic |
|
Leukopenia, Bone marrow hypocellularity, Anemia, Acute myeloid leukemia, Thrombocytopenia |
OMIM:619151 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Myeloid leukemia, Myelofibrosis |
OMIM:616604 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Portal hypertension, Hepatomegaly, Ascites, Elevated hepatic transaminase, Absence of lymph node ... |
ORPHA:79124 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Hepatitis, Anemia, Increased circ... |
OMIM:304790 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid h... |
OMIM:612541 |
Familial Pseudohyperkalemia |
|
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... |
ORPHA:90044 |
Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C... |
OMIM:615512 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Hepatitis, Decreased circulating... |
ORPHA:227990 |
Sickle Cell Anemia |
|
Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli... |
OMIM:603903 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... |
OMIM:207750 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... |
ORPHA:567983 |
Sézary Syndrome |
|
Hepatomegaly, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Spl... |
ORPHA:3162 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Anemia, Thrombocytopenia |
OMIM:614857 |
Hypophosphatasia, Infantile |
|
Hypercalcemia, Decreased calvarial ossification, Unossified vertebral bodies, Anemia, Craniosynos... |
OMIM:241500 |
Myopathy With Extrapyramidal Signs |
|
Leukocytosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypervalinemia, E... |
OMIM:615673 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... |
OMIM:233710 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Neutropenia, Methylmalonic acidemia, Anemia, Hyperglycinemia, Hyperammonemia, Pancy... |
OMIM:251100 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Hepatitis, Splenomegaly, Cirrhosis, ... |
OMIM:613812 |
Immunodeficiency 54 |
|
Lymphadenopathy, Reduced natural killer cell count, Hepatomegaly, Splenomegaly |
OMIM:609981 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Decreased serum iron |
ORPHA:391372 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Elevated hepatic transaminase |
OMIM:613489 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Splenomegaly, Macrove... |
OMIM:617303 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Decreased circulating antibody level, Lymphopenia, Splenomegaly |
OMIM:616005 |
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 |
Legionnaires Disease |
|
Hyponatremia, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Pancreatitis, Splenomegaly... |
ORPHA:549 |
Interstitial Lung And Liver Disease |
|
Thrombocytosis, Hepatomegaly, Hepatic fibrosis, Anemia, Hyperammonemia, Cirrhosis, Hepatic steato... |
OMIM:615486 |
Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis |
OMIM:616217 |
Fetal Gaucher Disease |
|
Abnormality of the spleen, Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia |
ORPHA:85212 |
Immunodeficiency 32B |
|
Splenomegaly |
OMIM:226990 |
Kenny-Caffey Syndrome, Type 2 |
|
Thickened cortex of long bones, Anemia, Increased bone mineral density, Hypocalcemia, Transient h... |
OMIM:127000 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Anemia, Hypokalemia, Hypocalcemia |
OMIM:175500 |
Hepatocellular Carcinoma |
|
Thrombocytosis, Hyponatremia, Hypercalcemia, Hepatomegaly, Hypokalemia, Hemobilia, Polycythemia, ... |
ORPHA:88673 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612926 |
H Syndrome |
|
Lymphadenopathy, Enlarged kidney, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hi... |
ORPHA:168569 |
Gaucher Disease, Type I |
|
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia |
OMIM:230800 |
Desmoplastic Small Round Cell Tumor |
|
Hepatomegaly, Mediastinal lymphadenopathy, Ascites, Lymphadenopathy, Anemia, Abnormality of the p... |
ORPHA:83469 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Anemia, Hyperuricemia, Hyperammonemia, Decreased plasma carnitine |
OMIM:246450 |
Diamond-Blackfan Anemia 11 |
|
Anemia, Neutropenia, Bone marrow hypocellularity, Anemia of inadequate production |
OMIM:614900 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Hyperostosis, Anemia, Craniofacial osteosclerosis, Elevated circulating C-reactive protein concen... |
ORPHA:324964 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Letterer-Siwe Disease |
|
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Jaundice |
OMIM:246400 |
Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Radial club hand, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, ... |
OMIM:617053 |
Graft Versus Host Disease |
|
Lymphadenopathy, Hyperbilirubinemia, Acute hepatitis, Hepatosplenomegaly, Elevated hepatic transa... |
ORPHA:39812 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Anemia, Hepatic failure, Elevated circulating creatine kinase concentration |
OMIM:607426 |
Majeed Syndrome |
|
Leukocytosis, Hepatomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Splenom... |
ORPHA:77297 |
Senior-Loken Syndrome 1 |
|
Anemia |
OMIM:266900 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Anisopoikilocytosis, Elevated red cell adenosine deaminase level, Stomatocytosis, Hyperuricemia, ... |
OMIM:102730 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Elevated circulating creatine kinase concentration, Decreased liver function, Anemia |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Elevated circulating creatine kinase concentration, Decreased liver function, Anemia |
OMIM:618839 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased red blood cell count, Increased circulating renin level, Hyperuricemi... |
ORPHA:90041 |
Rh-Null, Regulator Type |
|
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia, Jaundice |
OMIM:268150 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated circulating creatine kinase concentration, Hepatomegaly, Elevated hepatic transaminase, ... |
OMIM:608799 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Hepatitis, Decreased circulating... |
ORPHA:227982 |
Developmental And Epileptic Encephalopathy 50 |
|
Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Anemia, Hyperammonemia |
OMIM:616457 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Decreased prealbumin level, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Ir... |
ORPHA:37042 |
Hurler-Scheie Syndrome |
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Hepatomegaly, Abnormality of the tonsils, Splenomegaly |
ORPHA:93476 |
Acute Transverse Myelitis |
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Abscess, Decreased circulating copper concentration |
ORPHA:139417 |
Tangier Disease |
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Left ventricular hypertrophy, Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly |
OMIM:205400 |
Mevalonic Aciduria |
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Splenomegaly |
ORPHA:29 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Portal hypertension, Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Elevated hepatic tra... |
OMIM:615688 |
Alveolar Echinococcosis |
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Cholangitis, Biliary cirrhosis, Bone cyst, Pancreatic cysts, Abnormality of mesentery morphology,... |
ORPHA:284 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Hepatomegaly, Impaired T cell function, Splenomegaly |
OMIM:201100 |
Common Variable Immunodeficiency |
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Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Abnormality of the liver, Au... |
ORPHA:1572 |
Gracile Bone Dysplasia |
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Ascites, Asplenia, Decreased skull ossification, Hypocalcemia, Hypoplastic spleen |
OMIM:602361 |
Dohle Bodies And Leukemia |
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Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies |
OMIM:223350 |
Cronkhite-Canada Syndrome |
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Hepatomegaly, Anemia, Splenomegaly |
ORPHA:2930 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De... |
OMIM:614700 |
Autoimmune Lymphoproliferative Syndrome |
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Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Aicardi-Goutieres Syndrome 9 |
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Portal hypertension, Hepatomegaly, Hepatic fibrosis, Ascites, Osteoporosis, Anemia, Left ventricu... |
OMIM:619487 |
Elliptocytosis 2 |
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Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
Senior-Boichis Syndrome |
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Malformation of the hepatic ductal plate, Hepatic fibrosis, Ascites, Congenital hepatic fibrosis,... |
ORPHA:84081 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
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Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia |
OMIM:616738 |
Acute Monoblastic/Monocytic Leukemia |
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Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia, Cervical lymph... |
ORPHA:514 |
Lysosomal Acid Lipase Deficiency |
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Hyperkalemia, Hyponatremia, Microvesicular hepatic steatosis, Hepatic fibrosis, Ascites, Vacuolat... |
ORPHA:275761 |
Whipple Disease |
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Hyponatremia, Hepatomegaly, Mediastinal lymphadenopathy, Anemia, Splenomegaly |
ORPHA:3452 |
Anemia, Sideroblastic, 1 |
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Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... |
OMIM:300751 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
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Hepatomegaly, Lymphadenopathy, Splenomegaly, Thrombocytopenia, Hemolytic anemia |
ORPHA:169090 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
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Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly |
OMIM:153670 |
Shwachman-Diamond Syndrome |
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Neutropenia, Pancreatic hypoplasia, Leukemia, Pancytopenia, Bone marrow hypocellularity, Osteopen... |
ORPHA:811 |
Kaposiform Lymphangiomatosis |
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Pancreatic cysts, Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of the lymphati... |
ORPHA:464329 |
Idiopathic Aplastic Anemia |
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Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
ORPHA:88 |
Diamond-Blackfan Anemia 20 |
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Anemia, Erythroid hypoplasia |
OMIM:618313 |
Amoebiasis Due To Entamoeba Histolytica |
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