Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center, Abnormality of the liver, Endocardial fibrosis |
OMIM:235550 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy, Mucinous histiocytosis |
ORPHA:158025 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy |
ORPHA:60026 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Increased serum bile acid c... |
OMIM:619868 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Immunodeficiency 75 With Lymphoproliferation |
|
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... |
OMIM:619126 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Splenomegaly, Hepatomegaly |
OMIM:619175 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... |
OMIM:209950 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder, Hepatomegaly, Eosi... |
OMIM:607685 |
Immunodeficiency 104 |
|
Lymphadenopathy, Splenomegaly, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Increased variability in muscle fiber diameter, Decreased hepatic echogenicit... |
OMIM:613752 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Neutropenia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentration, Hem... |
OMIM:603552 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... |
OMIM:237800 |
Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:66661 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Increased circulating ferritin concentration, Hemoph... |
OMIM:613101 |
Hemochromatosis, Type 2B |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Increased cir... |
OMIM:613313 |
Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:507 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt... |
OMIM:308240 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Hyperuricemia, Abnormality of the liver, Abnormality of the pancr... |
ORPHA:543 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Jaundice, Hyperbilirubinemia, Increased serum bile acid concentration, Cholestasis, Hepatomegaly,... |
OMIM:620010 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy... |
OMIM:618963 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... |
OMIM:618654 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cirrhosis, Cholestatic liver disease, Decreased circulating ceruloplasmin concentration, Elevated... |
OMIM:616828 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Hepatomegaly, Thrombocytopenia, ... |
OMIM:133180 |
Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly |
OMIM:614480 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Pancytopenia, Increased circulating ferritin concentra... |
OMIM:616050 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Autoi... |
OMIM:617514 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... |
OMIM:615513 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Neutropenia, Hepatitis, Lymphadenopathy, Increased ci... |
ORPHA:158061 |
Follicular Lymphoma |
|
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum |
ORPHA:545 |
Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100024 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Decreased muscle mass, Hypopituitarism, Hepatosplenomegaly, Hepatic steatosis, Hypertriglyceridem... |
OMIM:619013 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
Fish-Eye Disease |
|
Lymphadenopathy, Decreased HDL cholesterol concentration, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Abnormal liver parenchyma morphology, Anem... |
ORPHA:64743 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Cirrhosis, Flexion contracture, Abnormal muscle glycogen content, Dilated cardiomyopathy, Hepatos... |
ORPHA:367 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia |
ORPHA:482 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... |
OMIM:267700 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Elevated carcinoembryo... |
ORPHA:100083 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Hepatomegaly, Eosinophilia, Impaired oxidative burst, Thromb... |
OMIM:226990 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Hyperammonemia, Ascites, Splen... |
OMIM:271500 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Congenital hemolytic anemia, Unconjugated hyperbilirubinemia, Elevated tran... |
ORPHA:766 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly, Leukocytosis |
OMIM:611762 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:98293 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Congenital Toxoplasmosis |
|
Anemia, Ascites, Jaundice, Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thrombocytopenia |
ORPHA:858 |
Glycogen Storage Disease Ixb |
|
Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Increased muscle glycogen conten... |
OMIM:261750 |
Galactosemia Iii |
|
Jaundice, Hypergalactosemia, Splenomegaly, Hepatomegaly |
OMIM:230350 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormal lymph node morphology, Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter |
ORPHA:97290 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... |
OMIM:607616 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Splenomegaly, Dilated cardiomyopathy, Increased circulating ferritin concentration, He... |
OMIM:602390 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pericarditis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatomegal... |
ORPHA:85414 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Lymphadenopathy, Increased proportion of memory T cells, Hepatosplenomegaly |
OMIM:618982 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormal lymph node morphology, Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter |
ORPHA:319487 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... |
OMIM:613011 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... |
OMIM:612840 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology, Hypercalcemia |
ORPHA:33111 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicular ... |
OMIM:614470 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis |
OMIM:269600 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni... |
OMIM:300853 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Generalized lymphadenopathy, Hepatosplenomegaly, Autoimmune thrombocytope... |
OMIM:615559 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Jaundice, Elevated circulating gamma-aminobutyric acid concentration, Hepatic b... |
OMIM:619658 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Pfapa Syndrome |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:42642 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... |
OMIM:618534 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Flexion contracture, Hepatomegaly, Joint contracture, Splenomegaly, Cardiomyopathy |
OMIM:608540 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Pancytopenia, Hepatosplenomegaly, Lympha... |
OMIM:603553 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly |
OMIM:611721 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Jaundice, Portal fib... |
OMIM:616278 |
Galactose Epimerase Deficiency |
|
Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Hepatic steatosis, Hepatomegaly, Pancreatitis, Microcytic anemia, Hypoalb... |
OMIM:618805 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbiliru... |
OMIM:269920 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L... |
OMIM:619846 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia |
ORPHA:157991 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... |
OMIM:602450 |
Isolated Anencephaly |
|
Congenital diaphragmatic hernia, Thymus hyperplasia |
ORPHA:563609 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hyperlipidemia, Hepatomegaly, Splenomega... |
OMIM:214900 |
Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:172 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Flexion contracture, Myositis, Autoimmune hemolytic anemia, Lymphadenopathy, Skeletal muscle atro... |
OMIM:619183 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Splenomegaly, Hepatomegaly |
OMIM:617068 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Abnormal testis morphology, ... |
ORPHA:54251 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Distal amyotrophy, Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... |
ORPHA:846 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Myopathy, Hepat... |
OMIM:617713 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Reduced serum alpha-1-antitrypsin, Hepatocellular carcinoma, Splenomegaly |
OMIM:613490 |
Glut1 Deficiency Syndrome 2 |
|
Reduced haptoglobin level, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:612126 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Abnormal heart valve morphology, Cardiomy... |
ORPHA:93476 |
Hemochromatosis, Type 1 |
|
Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Testicular atrophy, Increased circulating ferr... |
OMIM:235200 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Lymphadenopathy, Increased circulat... |
OMIM:614034 |
Sandhoff Disease |
|
Splenomegaly, Hepatomegaly |
ORPHA:796 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated ... |
OMIM:256550 |
X-Linked Sideroblastic Anemia |
|
Anemia, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
Griscelli Syndrome Type 2 |
|
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hyperlipidemia, Hepatomegaly, Neutrope... |
ORPHA:79477 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... |
ORPHA:98848 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Schnitzler Syndrome |
|
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly |
ORPHA:37748 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Distal amyotrophy, Hypoalbuminemia, Distal lower limb muscle weakness, Hypercholesterolemia |
ORPHA:94124 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatic bridging fibrosis, Skeletal muscle atrophy, Hepatomegaly, Splenomegaly |
OMIM:616719 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:618495 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Anemia, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, ... |
OMIM:618886 |
Tangier Disease |
|
Left ventricular hypertrophy, Facial diplegia, Decreased HDL cholesterol concentration, Hepatomeg... |
OMIM:205400 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly |
OMIM:240500 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... |
OMIM:615234 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy, Anemia |
ORPHA:158014 |
Refractory Celiac Disease |
|
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
OMIM:306000 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri... |
OMIM:612526 |
Cholesteryl Ester Storage Disease |
|
Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
ORPHA:75234 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... |
ORPHA:86839 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hepatome... |
OMIM:300635 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Neonatal hyperbilirubinemia, Increased circulating ferritin co... |
OMIM:618892 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Anemia, Reduced proportion of CD4+ effector memory T cells, Pericardial effu... |
ORPHA:90362 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Neutropenia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentration, Hem... |
ORPHA:540 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy |
OMIM:618987 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:56425 |
Cinca Syndrome |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentratio... |
OMIM:607115 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H... |
OMIM:603554 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology |
ORPHA:2584 |
Gaucher Disease Type 2 |
|
Flexion contracture, Splenomegaly, Hepatomegaly |
ORPHA:77260 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... |
OMIM:615631 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascites, Aplas... |
OMIM:615122 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... |
OMIM:615387 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Lymphadenopathy, Hepatomeg... |
OMIM:609981 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:608184 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Hepatomegaly,... |
ORPHA:79301 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Hyperbilir... |
OMIM:251880 |
Caspase 8 Deficiency |
|
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Splenomegaly |
ORPHA:664 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... |
ORPHA:247598 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Hypoalbuminemia |
OMIM:614652 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reti... |
OMIM:266200 |
Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... |
OMIM:207750 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... |
OMIM:607594 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Jaundi... |
OMIM:616689 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Limb hypertonia, Perimembranous ventricular septal defect, Hyperprolinemia, Card... |
OMIM:619170 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615010 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, ... |
OMIM:235700 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Hepatomegaly, Sp... |
OMIM:185000 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Anemia, Perimembranous ventricular septal defect, Ascites, Camptodactyly, Cholestasis, Hepatomega... |
OMIM:608104 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Hepatitis, Neutrophilia, Generalized lymphadenopathy, P... |
ORPHA:829 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Ch... |
ORPHA:848 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Microvesicular hepatic steatosis, Decreased plasma carnitine, Reduced muscle carn... |
OMIM:212140 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Facial palsy |
OMIM:615085 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Coombs-positive... |
OMIM:601859 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Sp... |
OMIM:182900 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly |
ORPHA:391 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Increased variability in muscle fiber diameter |
OMIM:614096 |
Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Tendon rupture, Increased circu... |
ORPHA:85451 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Hyperammonemia, Hepat... |
OMIM:600649 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Sp... |
OMIM:616649 |
Sickle Cell Disease |
|
Cholelithiasis, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Increased red cell ... |
OMIM:603903 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Sézary Syndrome |
|
Lymphadenopathy, Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology |
ORPHA:3162 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly |
OMIM:222800 |
Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:252920 |
Pleural Mesothelioma |
|
Lymphadenopathy, Hepatomegaly |
ORPHA:50251 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Hypoproteinemia, Thrombocytosis, Hepatomegaly, Iron deficiency anemia, Ascites, Intestina... |
OMIM:226300 |
Pseudomyxoma Peritonei |
|
Ascites, Lymphadenopathy, Abnormality of the peritoneum |
ORPHA:26790 |
Roifman Syndrome |
|
Hip contracture, Ventricular septal defect, Noncompaction cardiomyopathy, Lymphadenopathy, Eosino... |
OMIM:616651 |
Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Flexion contracture, Enlarged kidney, Macroglossia, Atrial septal defect, Mac... |
OMIM:617303 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... |
ORPHA:2585 |
Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... |
OMIM:613179 |
Griscelli Syndrome |
|
Leukopenia, Abnormal circulating lipid concentration, Hepatitis, Jaundice, Abnormality of neutrop... |
ORPHA:381 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Glycogen Storage Disease Ii |
|
Firm muscles, Macroglossia, Increased circulating NT-proBNP concentration, Elevated circulating c... |
OMIM:232300 |
Dysplastic Cortical Hyperostosis |
|
Splenomegaly, Hepatomegaly |
ORPHA:2204 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopenia, Myopathy |
OMIM:612783 |
Congenital Enterovirus Infection |
|
Leukopenia, Anemia, Cardiomyopathy, Myocarditis, Abnormal macrophage morphology, Hepatitis, Peric... |
ORPHA:292 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hypertrigly... |
OMIM:618398 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Lymphadenopathy, Skeletal muscle atrophy, Bone-marrow foam cells, Hepatom... |
OMIM:257200 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr... |
OMIM:602347 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Coproporphyria, Hereditary |
|
Jaundice, Splenomegaly, Hepatomegaly |
OMIM:121300 |
Mcleod Syndrome |
|
Reduced haptoglobin level, Rhabdomyolysis, Dilated cardiomyopathy, Elevated circulating creatine ... |
OMIM:300842 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Hepatomegaly, Myeloproli... |
ORPHA:3226 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Pancreatitis, Hyperammonemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly, ... |
ORPHA:79312 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Eleva... |
OMIM:619750 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Abnormality of the liver, Jaundice, Macroglossia, Hypoal... |
ORPHA:79320 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Abnormality of the liver, Lymphocytosis, Hyperbilirubinemia, Jaund... |
ORPHA:1667 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent tonsils, Absence of lymph node germinal... |
ORPHA:277 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Hepatic fibrosis, Anemia, Dilated cardiomyopathy, Elevated circulating creatine ki... |
OMIM:615895 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... |
OMIM:616217 |
Desmoplastic Small Round Cell Tumor |
|
Anemia, Neoplasm of the pancreas, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lym... |
ORPHA:83469 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cirrhosis, Decreased muscle mass, Abnormality of iron homeostasis, Elevated transferrin saturatio... |
ORPHA:465508 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutropenia, Hyperbilirubinemi... |
ORPHA:158057 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Lymphangiectasis, Hepatic fibrosis, Cirrhosis, Hepatomegaly, Hypoalbuminemia |
OMIM:602579 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Anemia, Splenomegaly, Hepatomegaly |
OMIM:618107 |
Primary Myelofibrosis |
|
Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphaden... |
ORPHA:824 |
Klatskin Tumor |
|
Extrahepatic cholestasis, Jaundice, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly |
ORPHA:99978 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Intraalveolar phospholipid accumulation, Splenomegaly, Leukocytosis |
OMIM:618042 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Alg1-Cdg |
|
Cardiomyopathy, Abnormal heart morphology, Hypoalbuminemia |
ORPHA:79327 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Limb-girdle muscle weakness, Hepatocellular carcinoma, Elevated circulating creatine kinase conce... |
ORPHA:370 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Muscle fiber splitting, Anemia, Increased variability in muscle fiber ... |
OMIM:611881 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Cardiomyopathy, Abnormality of the liver, Muscular dystrophy, Hyperhomocystin... |
ORPHA:88618 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... |
OMIM:301078 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Hyperalaninemia, Increased serum pyruvate, Macrocytic anemia, Hyperprolinemia, Splenomegaly, Card... |
OMIM:619046 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Anemia, Hemolytic anemia, Pericardial effusion, Left ventricular hypertrophy, H... |
OMIM:619487 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Jaund... |
OMIM:194380 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... |
OMIM:601847 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Coronary artery stenosis, Skeletal myopathy, Pancreatitis, Abnormality of the calf musculature, A... |
ORPHA:565612 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Jaundice, Fava bean-induced hemolytic anemia, Reti... |
OMIM:300908 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:610333 |
Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:100026 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Intermittent jaundice, Increased mean corpuscular hemoglobin concentra... |
ORPHA:3202 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
Rhabdoid Tumor |
|
Anemia, Neoplasm of the liver, Lymphadenopathy, Hypercalcemia, Thrombocytopenia |
ORPHA:69077 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati... |
OMIM:231005 |
Sialidosis Type 2 |
|
Flexion contracture, Skeletal muscle atrophy, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:87876 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Cardiomegal... |
ORPHA:615 |
American Trypanosomiasis |
|
Lymphadenopathy, Hepatomegaly, Myocarditis, Splenomegaly, Cardiomyopathy |
ORPHA:3386 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta... |
OMIM:241600 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hyp... |
ORPHA:42 |
Al Amyloidosis |
|
Anemia, Howell-Jolly bodies, Abnormality of the liver, Macroglossia, Increased circulating NT-pro... |
ORPHA:85443 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Facial palsy |
ORPHA:100084 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Exercise-induced rhabdomyolysis, Decreased plasma c... |
OMIM:201475 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Abnormal lymph node morphology, Lymphadenitis, Lymphocytosis, Decreased proportion of CD8-positiv... |
ORPHA:911 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
Castleman Disease |
|
Anemia, Restrictive cardiomyopathy, Jaundice, Generalized lymphadenopathy, Decreased mean corpusc... |
ORPHA:160 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Elevated circulating C-react... |
OMIM:619644 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Hemolytic anemia, Lymphopenia, Hepatosplenomegaly, Lymphadenopathy, Acute pancreat... |
OMIM:618935 |
Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Chylopericardium, Hepatomegaly, Ascites, Pulmonic stenosis |
ORPHA:2414 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Flexion contracture, Lymphopenia, Myositis, Lymphadenopathy, Hepatomegaly, Thrombocytopen... |
OMIM:617591 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Primary Lipodystrophy |
|
Cirrhosis, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Myopathy, Skeletal muscle hypertr... |
ORPHA:90970 |
Roifman Syndrome |
|
Hip contracture, Noncompaction cardiomyopathy, Hepatosplenomegaly, Lymphadenopathy, Eosinophilia |
ORPHA:353298 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Type 2 muscle fiber predominance, Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Thymu... |
OMIM:619036 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased proportion of CD3-positive T cells, Jaundice, Decrea... |
ORPHA:276 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Camptodactyly of finger, Retroperitoneal fibrosis, Decreased response to g... |
OMIM:602782 |
Overhydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Hepatomegaly |
OMIM:619064 |
Fetal Gaucher Disease |
|
Flexion contracture, Pancytopenia, Arthrogryposis multiplex congenita, Thrombocytopenia, Hepatome... |
ORPHA:85212 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Mevalonic Aciduria |
|
Splenomegaly |
ORPHA:29 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy, Macroglossia, Ovarian neoplasm |
ORPHA:2221 |
Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Hyperuricemia, Pancreatitis, Abnormality of skeletal muscle fiber size, Hepatic steato... |
ORPHA:79083 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly, Facial palsy |
OMIM:611490 |
Eosinophilic Gastroenteritis |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Ascite... |
ORPHA:2070 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Lymphadenopathy, Abnormal skeletal muscle morphology, Goiter |
ORPHA:142 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Truncus arteriosus, Ventricular septal defect, Portal hypertension, Splenomegaly |
OMIM:616589 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Lymphadenopathy, Myopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:169090 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Hepatomegaly, Portal hyperte... |
OMIM:619463 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Jaundice, Hyperbilirubinemia, Intrahepatic cholestasis, Hepatomegaly, Splenomegaly |
OMIM:235555 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:231000 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Aggressive Systemic Mastocytosis |
|
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Incre... |
ORPHA:98850 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Cinca Syndrome |
|
Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils, Lymphadenopathy, Elevated ci... |
ORPHA:1451 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Increased hepatic glycogen content, Bile duct proliferation, Hepatomegaly, Hypertrigly... |
OMIM:613027 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Hepatic fibrosis, Cirrhosis, Anemia, Periportal fibrosis, Increased hepatic echogenic... |
OMIM:278000 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Abnormality of skeletal muscle fiber size, Hepatic steatosis, Hypertrophic cardiomy... |
ORPHA:2348 |
Cirrhotic Cardiomyopathy |
|
Abnormal circulating A-type atrial natriuretic peptide concentration, Cirrhosis, Jaundice, Left v... |
ORPHA:57777 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Tularemia |
|
Anemia, Abnormal nasopharyngeal adenoid morphology, Lymphadenopathy, Mediastinal lymphadenopathy,... |
ORPHA:3392 |
Elliptocytosis 1 |
|
Elliptocytosis, Hemolytic anemia, Jaundice, Splenomegaly |
OMIM:611804 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Anemia, Primary testicular failure, Abnormal testis morphology, H... |
ORPHA:85450 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Ascites, Anemia, Splenomegaly |
ORPHA:1046 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly |
ORPHA:59303 |
Mpi-Cdg |
|
Portal hypertension, Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia |
ORPHA:79319 |
Adams-Oliver Syndrome 5 |
|
Patent foramen ovale, Hypersplenism, Pulmonic stenosis, Portal vein thrombosis, Right ventricular... |
OMIM:616028 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia |
OMIM:246700 |
Legionnaires Disease |
|
Endocarditis, Hepatitis, Jaundice, Pancreatitis, Lymphopenia, Pericarditis, Lymphadenopathy, Bone... |
ORPHA:549 |
Pancreatoblastoma |
|
Abnormal lymph node morphology, Jaundice, Elevated maternal serum alpha-fetoprotein, Pancreatic c... |
ORPHA:677 |
Thymic Neuroendocrine Tumor |
|
Increased circulating prolactin concentration, Neoplasm of the thymus, Pituitary adenoma, Pituita... |
ORPHA:97289 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... |
OMIM:613470 |
Danon Disease |
|
Generalized amyotrophy, Dilated cardiomyopathy, Myocardial fibrosis, Elevated circulating creatin... |
OMIM:300257 |
Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Hypoplasia of the thymus, Ventricular septal defe... |
OMIM:617022 |
Galloway-Mowat Syndrome 6 |
|
Decreased response to growth hormone stimulation test, Hypoalbuminemia |
OMIM:618347 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Elevated circulating C-reactive prot... |
OMIM:618048 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomeg... |
OMIM:616100 |
Medullary Thyroid Carcinoma |
|
Nodular goiter, Pheochromocytoma, Lymphadenopathy, Primary hyperparathyroidism, Abnormal liver pa... |
ORPHA:1332 |
Tangier Disease |
|
Anemia, Coronary artery stenosis, Left ventricular hypertrophy, Hepatosplenomegaly, Facial dipleg... |
ORPHA:31150 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia, Elevated circulating creatine kinase co... |
OMIM:208920 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Jaundice, Acholic stools, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly... |
OMIM:607765 |
Felty Syndrome |
|
Anemia, Pericarditis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopeni... |
ORPHA:47612 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... |
OMIM:211600 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Hepatitis, Neutropenia in presence of anti-neutropil antibodies, Redu... |
ORPHA:37042 |
Citrullinemia Type Ii |
|
Hepatic fibrosis, Hepatocellular carcinoma, Acute hyperammonemia, Hepatic steatosis, Hypoproteine... |
ORPHA:247585 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly |
OMIM:614699 |
Hyperlipoproteinemia, Type I |
|
Jaundice, Pancreatitis, Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemi... |
OMIM:238600 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Pericardial effusion, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly,... |
OMIM:614702 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Myositis, Lymphadenopathy |
ORPHA:69126 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ventricular septal defect, Joint contracture of the hand, Thyroid lymphangiectasia, Pericardial e... |
OMIM:235510 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Lymphadenopathy |
ORPHA:411703 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... |
OMIM:224120 |
Omenn Syndrome |
|
Anemia, Lymphadenopathy, Eosinophilia, Hepatomegaly, Leukocytosis, Splenomegaly, Abnormal lymphoc... |
ORPHA:39041 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating creatine kinase concentration, Transient hyperlipidemia, Hepatic steatosis, ... |
OMIM:255120 |
Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Splenomegaly, Hepatic fibrosis, Abnormality of iron homeostasis, Cirrhosis, A... |
OMIM:222470 |
Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Decreased LDL cholesterol concentration, Pancreatitis, Hyperlipoproteinem... |
OMIM:615947 |
Congenital Rubella Syndrome |
|
Anemia, Ventricular septal defect, Jaundice, Atrial septal defect, Hepatomegaly, Thrombocytopenia... |
ORPHA:290 |
Scrub Typhus |
|
Lymphadenopathy, Myocarditis, Splenomegaly |
ORPHA:83317 |
Wilson Disease |
|
Cirrhosis, Anemia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Increased... |
OMIM:277900 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Anemia, Liver abscess, Constrictive pericarditis, Leukocytosis, ... |
ORPHA:67 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... |
ORPHA:860 |
Thyroid Lymphoma |
|
Lymphadenopathy, Goiter |
ORPHA:97285 |
Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot |
OMIM:601005 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of inadequate production, Splen... |
OMIM:612714 |
Avian Influenza |
|
Leukopenia, Rhabdomyolysis, Hepatitis, Lymphopenia, Elevated circulating creatine kinase concentr... |
ORPHA:454836 |
Free Sialic Acid Storage Disease |
|
Ascites, Aplasia/Hypoplasia of the abdominal wall musculature, Splenomegaly, Hepatomegaly |
ORPHA:834 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Anemia, Patent foramen ovale, Flexion contracture, Enlarged kidney, Macroglossia, Atr... |
ORPHA:505248 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy, Macroglossia, Facial palsy |
ORPHA:2483 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... |
ORPHA:288 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly, Myeloproliferative disord... |
ORPHA:79456 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Jaundice, Hyperbilirubinemia, Hepatomegaly, Macrovesicular hepa... |
OMIM:613070 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Hypoalbuminemia, Ventricular septal defect, Hypercholesterolemia |
OMIM:616730 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
Abetalipoproteinemia |
|
Hepatic fibrosis, Decreased LDL cholesterol concentration, Cirrhosis, Anemia, Hyperbilirubinemia,... |
ORPHA:14 |
Nephroblastoma |
|
Lymphadenopathy, Neoplasm of the liver |
ORPHA:654 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly |
OMIM:619051 |
Wolman Disease |
|
Anemia, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:75233 |
Sclerosing Cholangitis, Neonatal |
|
Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic stools, Portal fibrosis, ... |
OMIM:617394 |
Sandhoff Disease |
|
Macroglossia, Hepatosplenomegaly, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
Neonatal Lupus Erythematosus |
|
Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytop... |
ORPHA:398124 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Myofiber disarray, Ventricular hypertrophy, Pericardial effusion, Ventricular septal hypertrophy,... |
OMIM:115197 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:255249 |
Transaldolase Deficiency |
|
Patent foramen ovale, Hepatic fibrosis, Cirrhosis, Anemia, Ventricular septal defect, Pancytopeni... |
OMIM:606003 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt... |
OMIM:619824 |
Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidism, Atrial septal defect, ... |
OMIM:618652 |
Primary Sclerosing Cholangitis |
|
Hepatic fibrosis, Cirrhosis, Generalized amyotrophy, Hepatitis, Jaundice, Pancreatitis, Cholangio... |
ORPHA:171 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Cirrhosis, Abnormality of iron homeostasis, Abnormality of the liver, Increased H... |
ORPHA:231222 |
Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri... |
ORPHA:822 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Pericardial effusion, Lymphadenopathy, Hepatomegaly, Ascites, Abnormal heart valve ... |
ORPHA:36412 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Cirrhosis, Hepatitis, Hyperbilirubinemia, Jaundice, Acholic stools, Hepatic bridging fibrosis, In... |
OMIM:613812 |
Proteus-Like Syndrome |
|
Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia, Splenomegaly |
ORPHA:2969 |
Mulibrey Nanism |
|
Pericardial constriction, Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Ascites |
OMIM:253250 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... |
ORPHA:231226 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Lower limb muscle weakness, Calf muscle hypertrophy, Elevated circulating creatine kinase concent... |
ORPHA:268 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy, Neoplasm of the liver |
ORPHA:424019 |
Mevalonic Aciduria |
|
Anemia, Elevated circulating creatine kinase concentration, Hepatosplenomegaly, Normocytic hypopl... |
OMIM:610377 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Stomatocytosis, Anemia, Giant platelets, Reticulocytosis, Elevated cir... |
OMIM:210250 |
Infantile Liver Failure Syndrome 3 |
|
Jaundice, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammonemia, Cholestasis, Hepatomegaly... |
OMIM:618641 |
Mixed Connective Tissue Disease |
|
Leukopenia, Hemolytic anemia, Pericarditis, Myositis, Lymphadenopathy, Mediastinal lymphadenopath... |
ORPHA:809 |
Sarcoidosis, Susceptibility To, 2 |
|
Facial palsy, Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly |
OMIM:612387 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy |
ORPHA:33276 |
Carcinoid Syndrome |
|
Chronic noninfectious lymphadenopathy, Abnormal B-type natriuretic peptide concentration, Myopath... |
ORPHA:100093 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Cirrhosis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concen... |
OMIM:242150 |
Cyclic Neutropenia |
|
Peritonitis, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Cyclic neutropenia, Cervic... |
ORPHA:2686 |
Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Hepatocellular carcinoma, Hypoplasia of the musculature, Hepatos... |
ORPHA:231214 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Cryptorchidism, Lymphopenia, Hypoalbuminemia |
OMIM:617575 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Abdominal sit... |
OMIM:306955 |
Farber Lipogranulomatosis |
|
Splenomegaly, Hepatomegaly, Lipogranulomatosis |
OMIM:228000 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, Anemia, Ventricular septal defect, Polysplenia, Macr... |
OMIM:619418 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Elevated circulating thyroid-stimulating hormone concentration, Pericardial effusion, Cryptorchid... |
OMIM:618183 |
Refsum Disease, Classic |
|
Cardiomegaly, Limb muscle weakness, Elevated circulating phytanic acid concentration, Cardiomyopathy |
OMIM:266500 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Hepatomegaly, C... |
OMIM:308230 |
Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Anemia, Limb-girdle muscle weakness, Rhabdomyolysis, Hepatocellular ... |
ORPHA:79240 |
Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Jaundice, Giant neutrophil granules, Lymphadenopathy, Hemophagocytosis, Foot ... |
OMIM:214500 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Pericardial effusion, Lymphadenopathy, Elevated circulating C-reactive protei... |
ORPHA:79126 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Enlarged kidney, Poly... |
OMIM:208540 |
Boutonneuse Fever |
|
Leukopenia, Lymphadenopathy, Thrombocytopenia, Cervical lymphadenopathy |
ORPHA:83313 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Anemia, Hepatocellular adenoma, Abnormal erythrocyte enzyme level, P... |
ORPHA:264580 |
Gaucher Disease, Type I |
|
Anemia, Hypersplenism, Pancytopenia, Hepatomegaly, Aortic valve stenosis, Thrombocytopenia, Splen... |
OMIM:230800 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosi... |
OMIM:617099 |
Bacterial Toxic-Shock Syndrome |
|
Hepatitis, Peritonitis, Hypocalcemia, Increased circulating metamyelocyte count, Elevated circula... |
ORPHA:36234 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... |
ORPHA:3092 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
Wilson Disease |
|
Cirrhosis, Anemia, Proximal muscle weakness in lower limbs, Hepatitis, Jaundice, Hepatic steatosi... |
ORPHA:905 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypercholesterolemia, Peritonitis, Hypertriglyceridemia... |
ORPHA:567548 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
Graft Versus Host Disease |
|
Hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Myositis, Lymphadenopathy, Hemophagocytosis, Du... |
ORPHA:39812 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... |
ORPHA:86843 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Myositis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, L... |
ORPHA:32960 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233710 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Anemia, Flexion contracture, Decreased plasma carnitine, Decreased serum iron, Dilated cardiomyop... |
ORPHA:89842 |
Gaucher Disease Type 1 |
|
Leukopenia, Cirrhosis, Anemia, Pericardial effusion, Hypersplenism, Pancytopenia, Biliary tract o... |
ORPHA:77259 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Lymphopenia, Myositis, Follicular hyperplasia, Skeletal muscle atrophy, Eleva... |
OMIM:615934 |
Juvenile Idiopathic Arthritis |
|
Pericardial effusion, Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly |
ORPHA:92 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... |
OMIM:616005 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Hepatic fibrosis, Flexion contracture, Pericardial effusion, Hepatic steatosis, P... |
OMIM:212065 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Unconjugated hyperbi... |
OMIM:618278 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Extrahepatic cholestasis, Peritoneal abscess, Neoplasm of the liver, J... |
ORPHA:1333 |
|