Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
Hemoglobin H Disease |
|
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice |
OMIM:206400 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly |
ORPHA:46532 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Hypereosinophilic Syndrome, Idiopathic |
|
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy... |
OMIM:607685 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly, Hyperbilirubinemia |
OMIM:179700 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis,... |
OMIM:237800 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Hepatic fibrosis |
OMIM:614480 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia |
OMIM:269600 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Elevated transferrin sa... |
OMIM:613313 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... |
OMIM:603902 |
Immunodeficiency 48 |
|
Splenomegaly, Hepatomegaly |
OMIM:269840 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231242 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
Immunodeficiency 104 |
|
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly |
OMIM:608971 |
Immunodeficiency 69 |
|
Pancytopenia, Increased circulating ferritin concentration, Leukocytosis, Hepatosplenomegaly, Thr... |
OMIM:618963 |
Erythroleukemia, Familial, Susceptibility To |
|
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... |
OMIM:133180 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia,... |
OMIM:615234 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis, Hyperam... |
OMIM:271500 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... |
ORPHA:90039 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anisocytosis, Reduced red cell pyruva... |
ORPHA:766 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly |
OMIM:618495 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... |
OMIM:615285 |
Galactosemia Iii |
|
Hypergalactosemia, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:230350 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... |
ORPHA:444463 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... |
OMIM:603552 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy |
OMIM:618852 |
Trimethylaminuria |
|
Neutropenia, Anemia, Splenomegaly |
OMIM:602079 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia |
ORPHA:228312 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Anisocytosis, Hepatomegaly, Jau... |
OMIM:616860 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Hepatomegaly, Splenomegaly |
OMIM:617068 |
Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly,... |
OMIM:602390 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Decreased circulating cerul... |
OMIM:616828 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hepatomegaly |
OMIM:618541 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... |
OMIM:600649 |
Niemann-Pick Disease, Type B |
|
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Hypertriglyceridemia, Increased LDL c... |
OMIM:607616 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, Hepatic bridging fibrosi... |
OMIM:619658 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepatomegaly, Jaundic... |
OMIM:616278 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:66661 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... |
OMIM:613101 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopathy, Cardiomegaly, L... |
OMIM:617713 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Cirrhosis, N... |
OMIM:214900 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Hepatomegaly, Splenomegaly |
OMIM:610293 |
Retinohepatoendocrinologic Syndrome |
|
Pallor |
OMIM:268040 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor, Short stature |
ORPHA:2786 |
Alpha-Thalassemia |
|
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... |
ORPHA:846 |
Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Spherocytosis, Type 4 |
|
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis |
OMIM:612653 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites |
ORPHA:100025 |
Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Hypocalcemia, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:172 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:79238 |
Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... |
OMIM:207750 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Hyperbilirubinemia, Stomatocytosis, Retic... |
OMIM:185000 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Ascites, Cardi... |
OMIM:269920 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Hepatomegaly, Anemia, Hypocholesterolemia, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly, Abnormality of iron homeostasis |
ORPHA:75563 |
Immunodeficiency 76 |
|
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia |
OMIM:619164 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Prolonged neonatal jaun... |
OMIM:618892 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Reti... |
OMIM:182900 |
Fish-Eye Disease |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration |
ORPHA:79292 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... |
OMIM:616689 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hyperammonemia |
ORPHA:664 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatic steatosis, Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hepatome... |
OMIM:612526 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyo... |
OMIM:235200 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... |
OMIM:235700 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Spherocytosis, Type 2 |
|
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Reti... |
OMIM:616649 |
Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema |
OMIM:603165 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia, Cirrhosis |
ORPHA:75234 |
Hurler-Scheie Syndrome |
|
Abnormal heart valve morphology, Splenomegaly, Hepatomegaly, Cardiomyopathy, Abnormality of the t... |
ORPHA:93476 |
Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Ascites, Cardiomegaly, Thrombocytopenia |
ORPHA:858 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy |
ORPHA:100024 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatic steatosis, Transient hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase c... |
OMIM:255120 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly |
OMIM:611721 |
Familial Atrial Myxoma |
|
Cardiac myxoma, Cholestasis, Ascites, Bacterial endocarditis, Jaundice, Pulmonic valve myxoma, Ca... |
ORPHA:615 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... |
OMIM:614470 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Short stature, Pallor, Ventricular septal defect |
ORPHA:49827 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor, Hypertrophic cardiomyopathy |
OMIM:612989 |
Danon Disease |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... |
OMIM:615631 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepat... |
OMIM:300635 |
Spherocytosis, Type 5 |
|
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:612690 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... |
OMIM:617514 |
Immunodeficiency 14A, Autosomal Dominant |
|
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... |
OMIM:615513 |
Sandhoff Disease |
|
Splenomegaly, Hepatomegaly |
ORPHA:796 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly, Hyperprolinemia, Hyperalaninemia |
OMIM:619170 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... |
ORPHA:79301 |
Immunodeficiency 32B |
|
Splenomegaly |
OMIM:226990 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Hepatomegaly, Lymphadenopath... |
ORPHA:85414 |
Carnitine Deficiency, Systemic Primary |
|
Hepatic steatosis, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Decreased plasma carn... |
OMIM:212140 |
Nephronophthisis 19 |
|
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis |
OMIM:616217 |
Cyclic Vomiting Syndrome |
|
Pallor, Cardiomyopathy, Growth delay |
OMIM:500007 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Cardiomyopathy, Splenomegaly, Hepatomegaly |
OMIM:608540 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia |
ORPHA:231401 |
Beta-Thalassemia |
|
Microcytic anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Abnor... |
ORPHA:848 |
Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum |
ORPHA:545 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... |
OMIM:209950 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Splenomegaly, Hepatomegaly |
OMIM:616719 |
Cryohydrocytosis |
|
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis |
OMIM:185020 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... |
OMIM:224120 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Anemi... |
OMIM:618398 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Increased circulating ferritin concentration, Leukopenia, Autoimmune hemolytic anem... |
OMIM:613011 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Cardiomegaly, Hyperprolinemia, Hepatomegaly |
OMIM:619064 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... |
OMIM:222800 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:98293 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopathy, Splenomegaly |
OMIM:611762 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiomegaly |
OMIM:618052 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Neuraminidase Deficiency |
|
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Cardiomyopathy, Ascit... |
OMIM:256550 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis,... |
OMIM:266200 |
Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Splenomegaly, Hepatomegaly, Thrombocytopenia |
OMIM:615085 |
Hb Bart'S Hydrops Fetalis |
|
Pallor, Hydrocephalus, Pericarditis |
ORPHA:163596 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:252920 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Cholestasis |
OMIM:105200 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Elliptocytosis 1 |
|
Hemolytic anemia, Elliptocytosis, Splenomegaly, Jaundice |
OMIM:611804 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... |
ORPHA:70578 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmu... |
OMIM:615559 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased circulating ferritin concentration, Exercise-induced hemolysis, Splenom... |
OMIM:194380 |
Hemoglobin E Disease |
|
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... |
ORPHA:2133 |
Sclerosing Cholangitis, Neonatal |
|
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... |
OMIM:617394 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Lymphadenitis, Leukocytosis, Anemia, Cardiomegaly, ... |
OMIM:618886 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Elli... |
OMIM:109270 |
Omenn Syndrome |
|
Eosinophilia, Hypoproteinemia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Lymp... |
OMIM:603554 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... |
OMIM:300908 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... |
ORPHA:178320 |
Gaucher Disease, Type Iiic |
|
Pancytopenia, Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomega... |
OMIM:231005 |
Sickle Cell Anemia |
|
Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Hepatomegaly, J... |
OMIM:603903 |
Dysplastic Cortical Hyperostosis |
|
Splenomegaly, Hepatomegaly |
ORPHA:2204 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... |
ORPHA:2585 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Hypertrophic cardiomyopathy, ... |
ORPHA:85451 |
Immunodeficiency 64 |
|
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... |
OMIM:618534 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ascites, Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular hypertrophy, Ventricular septal h... |
OMIM:115197 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatic steatosis, Periportal fibrosis, Hypertrophic cardiomyopathy, Decreased plasma carnitine, ... |
OMIM:201475 |
Pfapa Syndrome |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:42642 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Intermittent... |
OMIM:601847 |
Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... |
ORPHA:3203 |
Coproporphyria, Hereditary |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:121300 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Pancreatitis, Thrombocytopenia, ... |
ORPHA:79312 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper... |
OMIM:300853 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly |
ORPHA:77260 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... |
OMIM:602347 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... |
ORPHA:521 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... |
ORPHA:75564 |
Rheumatic Fever |
|
Abnormal heart valve morphology, Abnormal mitral valve morphology, Endocarditis, Myocarditis, Abn... |
ORPHA:3099 |
Adult-Onset Still Disease |
|
Leukocytosis, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Neutrophilia... |
ORPHA:829 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... |
OMIM:612840 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Splenom... |
ORPHA:64743 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... |
OMIM:613673 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia... |
ORPHA:79477 |
Timothy Syndrome |
|
Tetralogy of Fallot, Patent foramen ovale, Hypocalcemia, Ventricular septal defect, Cardiomegaly |
OMIM:601005 |
Glycogen Storage Disease Ii |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:232300 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... |
ORPHA:158057 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Ma... |
ORPHA:3202 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Hyperprolinemia, Increased serum pyruvate, Splenomegaly, Cardiomyopathy, Macrocytic anemia, Hyper... |
OMIM:619046 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... |
OMIM:619375 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... |
ORPHA:231154 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... |
ORPHA:507 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Increased proportion of ... |
ORPHA:98848 |
Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly |
OMIM:602271 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Increased circulating ferritin concentration, Splenomegaly, Elevated circulating C-... |
OMIM:616050 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia |
OMIM:314050 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Bive... |
ORPHA:860 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Increased circulating NT-proBNP concentration, Abnormal A-type atrial n... |
ORPHA:57777 |
Hyperlipoproteinemia, Type I |
|
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... |
OMIM:238600 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Abnor... |
ORPHA:158061 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia |
OMIM:235555 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin |
ORPHA:90037 |
Sea-Blue Histiocytosis |
|
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Thrombocytopenia |
OMIM:610333 |
Polycythemia Vera |
|
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... |
OMIM:263300 |
Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy |
ORPHA:37748 |
Glycogen Storage Disease Ixc |
|
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Hypertri... |
OMIM:613027 |
Portal Hypertension, Noncirrhotic, 2 |
|
Portal hypertension, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of liver, Ascit... |
OMIM:619463 |
Autoimmune Lymphoproliferative Syndrome |
|
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... |
OMIM:601859 |
Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Hepatomegaly, Pulmonic stenosis, Ascites, Chylopericardium |
ORPHA:2414 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor, Hypertrophic cardiomyopathy |
ORPHA:276556 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... |
OMIM:613470 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly, Hyperalaninemia, Hyperammonemia |
OMIM:619051 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pallor |
OMIM:608423 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Patent foramen ovale, Atrial septal defect, Short stature, Ventr... |
OMIM:609053 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Hyperlipoproteinemia, Type Id |
|
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Recurrent pancreatitis, Sp... |
OMIM:615947 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy... |
OMIM:607594 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... |
OMIM:615122 |
Cold Agglutinin Disease |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly, Hemolytic anemia |
ORPHA:56425 |
Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Splenomegaly, Hepatomegaly |
OMIM:618107 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Cardiomegaly, Portal hypertension, Cholangiocarcino... |
ORPHA:465508 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Decreased plasma total carnitine, Hepatomegaly, Elevated circulating creatine ... |
ORPHA:42 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor, Hypertrophic cardiomyopathy |
ORPHA:276575 |
Sitosterolemia 1 |
|
Abnormality of the liver, Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circulati... |
OMIM:210250 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hyponatremia, Hemophag... |
OMIM:267700 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor, Hypertrophic cardiomyopathy |
ORPHA:276580 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic steatosis, Leukopenia, Portal hypertension, Periportal fibrosis, Hepatosplenomegaly, Hepa... |
OMIM:278000 |
Congenital Tricuspid Valve Dysplasia |
|
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... |
ORPHA:555874 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Portal hypertension, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:59303 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hyperbiliru... |
OMIM:607765 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, Lymphadenopathy... |
OMIM:150550 |
Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:2584 |
Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Patent foramen ovale, Splenomegaly, Pulmonic stenosis, Right ventricula... |
OMIM:616028 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia |
OMIM:608885 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:231000 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Jaun... |
OMIM:211600 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly |
OMIM:240500 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Erythrocytosis, Familial, 1 |
|
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:133100 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Splenomegaly, Hepatomegaly |
OMIM:605309 |
Mevalonic Aciduria |
|
Splenomegaly |
ORPHA:29 |
Mcleod Syndrome |
|
Dilated cardiomyopathy, Splenomegaly, Hepatomegaly, Acanthocytosis, Elevated circulating creatine... |
OMIM:300842 |
Mulibrey Nanism |
|
Pericardial constriction, Hepatomegaly, Ascites, Cardiomegaly, Myocardial fibrosis |
OMIM:253250 |
Aicardi-Goutieres Syndrome 7 |
|
Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615846 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphadenopathy, Aplasti... |
OMIM:308240 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor, Delayed puberty |
OMIM:600462 |
Tangier Disease |
|
Left ventricular hypertrophy, Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration |
OMIM:205400 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Reticulocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic a... |
ORPHA:288 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Acholic stools, Cirrhosis |
OMIM:613812 |
Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Ventricular septal defect, Th... |
ORPHA:290 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Splenomegaly, Ascites |
ORPHA:1046 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic steatosis, Portal hypertension, Periportal fibrosis, Splenomegaly, Depletion of mitochond... |
OMIM:251880 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Ventricular septal hypertrophy, Hepatic steatosis, Cholestasis, Hypercholesterolemia, Splenomegal... |
ORPHA:370 |
Heterotaxy, Visceral, 2, Autosomal |
|
Mesocardia, Dextrocardia, Double outlet right ventricle, Situs inversus totalis, Abdominal situs ... |
OMIM:605376 |
Griscelli Syndrome |
|
Leukopenia, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Splenomegaly, ... |
ORPHA:381 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... |
OMIM:611881 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Anemia of inadeq... |
OMIM:612714 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Cardiomegaly, Ventricular septal defect, Patent foramen ovale |
OMIM:618652 |
Immunodeficiency 54 |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly, Reduced natural killer cell count |
OMIM:609981 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy |
OMIM:607271 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Pulmonic stenosis, Abnormal heart morphology, Ventricular septal defect, ... |
ORPHA:3092 |
Babesiosis |
|
Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Thrombocytopenia |
ORPHA:108 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor, Short stature |
OMIM:611590 |
Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly, Hepatomegaly |
ORPHA:99931 |
Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
Transaldolase Deficiency |
|
Pancytopenia, Hepatosplenomegaly, Patent foramen ovale, Atrial septal defect, Splenomegaly, Hepat... |
OMIM:606003 |
Primary Myelofibrosis |
|
Pancytopenia, Portal hypertension, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly... |
ORPHA:824 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly |
OMIM:614699 |
Infantile Liver Failure Syndrome 3 |
|
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... |
OMIM:618641 |
Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy, Elevated levels of phytanic acid |
OMIM:266500 |
Gaucher Disease, Type Ii |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:230900 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Hereditary Spherocytosis |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundice, Hepa... |
ORPHA:822 |
Classic Hodgkin Lymphoma |
|
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly |
ORPHA:391 |
Wolman Disease |
|
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites |
ORPHA:75233 |
Neonatal Lupus Erythematosus |
|
Pancytopenia, Dilated cardiomyopathy, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutr... |
ORPHA:398124 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... |
ORPHA:3226 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... |
ORPHA:540 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hepatosp... |
OMIM:603553 |
Roifman Syndrome |
|
Eosinophilia, Splenomegaly, Hepatomegaly, Ventricular septal defect, Lymphadenopathy, Noncompacti... |
OMIM:616651 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Myopathy With Extrapyramidal Signs |
|
Hyperlysinemia, Leukocytosis, Splenomegaly, Hepatomegaly, Hypervalinemia, Elevated circulating cr... |
OMIM:615673 |
American Trypanosomiasis |
|
Pallor, Cardiomyopathy, Myocarditis |
ORPHA:3386 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... |
OMIM:603909 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Cirrhosis, Splenomegaly, Hepatomegaly |
OMIM:613489 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Splenomegaly, Lymphopenia |
OMIM:616005 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Aorta Coarctation |
|
Tetralogy of Fallot, Cardiomegaly, Hypoplastic left heart, Bicuspid aortic valve, Aortic valve at... |
ORPHA:1457 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Fetal Gaucher Disease |
|
Pancytopenia, Splenomegaly, Hepatomegaly, Abnormality of the spleen, Thrombocytopenia |
ORPHA:85212 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Microvesicular hepatic steatosis, Hepatosplenomegaly, Leukocytosis, Anisocytosis, Hepatocellular ... |
OMIM:618278 |
Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia |
ORPHA:98375 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Coronary Arterial Fistula |
|
Right ventricular dilatation, Patent foramen ovale, Atrial septal defect, Bacterial endocarditis,... |
ORPHA:2041 |
Heterotaxy, Visceral, 1, X-Linked |
|
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... |
OMIM:306955 |
Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... |
ORPHA:100026 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Cirrhosis, Splenomega... |
ORPHA:231222 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatic steatosis, Hyperlipidemia, Decreased plasma total carniti... |
ORPHA:228308 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly |
OMIM:619183 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Cardiomegaly, Ventricular septal defect, Overriding aorta |
OMIM:617022 |
Farber Lipogranulomatosis |
|
Splenomegaly, Hepatomegaly, Lipogranulomatosis |
OMIM:228000 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Monocytosis, Atrial septal defect, Cor triatriatum, Splenomegaly, Hepatomegaly, Pulmo... |
OMIM:612541 |
Gaucher Disease, Type I |
|
Pancytopenia, Aortic valve stenosis, Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocy... |
OMIM:230800 |
Cantu Syndrome |
|
Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Pericardial effusion |
OMIM:239850 |
Myoclonus, Intractable, Neonatal |
|
Pallor |
OMIM:617235 |
Budd-Chiari Syndrome |
|
Portal hypertension, Peritonitis, Cholecystitis, Splenomegaly, Hepatomegaly, Jaundice, Ascites, C... |
ORPHA:131 |
Acute Panmyelosis With Myelofibrosis |
|
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, A... |
ORPHA:86843 |
Gaucher Disease Type 1 |
|
Pancytopenia, Abnormal myocardium morphology, Leukopenia, Biliary tract obstruction, Splenomegaly... |
ORPHA:77259 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatic steatosis, Portal hypertension, Hyperlipidemia, Splenomegaly, Hepatomegal... |
ORPHA:567983 |
Primary Lipodystrophy |
|
Hepatic steatosis, Hyperlipidemia, Splenomegaly, Cardiomyopathy, Pancreatitis, Cirrhosis |
ORPHA:90970 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Hemol... |
OMIM:618935 |
Legionnaires Disease |
|
Hyponatremia, Bone marrow hypocellularity, Endocarditis, Splenomegaly, Myocarditis, Jaundice, Hep... |
ORPHA:549 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Histiocytosis, Atrial septal defect, Pancreatic hypoplasia, Splenomegaly, Hep... |
OMIM:602782 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Cinca Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Cholestasis, Atrial septal defect, Splenomegaly, Hepatomegaly, Elevated circulating... |
OMIM:614576 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Enlarged kidney, Decreased plasma total carnitine, Elevated circulating c... |
OMIM:608836 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Cholestasis, Splenomegaly, Hepatomegaly, Ventricular septal defect, Hepatic fibrosis |
OMIM:615630 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hepatic steatosis, Chronic hepatitis, Increased hepatic glycogen content,... |
OMIM:614921 |
Triglyceride Deposit Cardiomyovasculopathy |
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Hyperlipidemia, Coronary artery stenosis, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Abn... |
ORPHA:565612 |
Mucopolysaccharidosis, Type Iiia |
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Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:252900 |
Non-Functioning Paraganglioma |
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Pallor |
ORPHA:94080 |
Caroli Disease |
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Cholelithiasis, Biliary cirrhosis, Portal hypertension, Leukocytosis, Cholestasis, Cholangitis, C... |
ORPHA:53035 |
Isolated Right Ventricular Hypoplasia |
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Right atrial enlargement, Patent foramen ovale, Atrial septal defect, Muscular ventricular septal... |
ORPHA:439 |
Dravet Syndrome |
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Pallor |
ORPHA:33069 |
Senior-Loken Syndrome 8 |
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Pallor |
OMIM:616307 |
Fucosidosis |
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Cardiomegaly, Splenomegaly, Hepatomegaly, Vacuolated lymphocytes |
OMIM:230000 |
Mixed-Type Autoimmune Hemolytic Anemia |
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Pallor |
ORPHA:90036 |
Hsd10 Disease, Infantile Type |
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Cardiomegaly, Hypertrophic cardiomyopathy, Hyperammonemia |
ORPHA:391428 |
Felty Syndrome |
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Abnormal lymphocyte morphology, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Neutrope... |
ORPHA:47612 |
Essential Thrombocythemia |
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Splenomegaly, Acute leukemia, Abnormal platelet morphology |
ORPHA:3318 |
Sézary Syndrome |
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Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:3162 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Sclerosing cholangitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, H... |
OMIM:308230 |
Autoinflammation With Arthritis And Dyskeratosis |
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Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Elevated circulating ... |
OMIM:617388 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Ascites |
OMIM:261740 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenop... |
OMIM:616100 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Hepatic steatosis, Cholestasis, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Elevated circul... |
ORPHA:264580 |
Immunodeficiency 60 And Autoimmunity |
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Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly |
OMIM:618394 |
Tyrosinemia, Type I |
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Elevated alpha-fetoprotein, Enlarged kidney, Pancreatic islet-cell hyperplasia, Splenomegaly, Hep... |
OMIM:276700 |
Leigh Syndrome With Nephrotic Syndrome |
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Cardiomegaly, Hypoalbuminemia |
ORPHA:255249 |
Wilson Disease |
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Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Hepatitis, Acute hepa... |
ORPHA:905 |
Dominant Beta-Thalassemia |
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Dilated cardiomyopathy, Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin conc... |
ORPHA:231226 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Hepatic steatosis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Hypertriglyceridemia,... |
ORPHA:2348 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
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Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis |
OMIM:153670 |
Autoimmune Hemolytic Anemia, Warm Type |
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Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Jaundice |
ORPHA:90033 |
B4Galt1-Cdg |
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Elevated circulating creatine kinase concentration, Splenomegaly, Hepatomegaly, Decreased LDL cho... |
ORPHA:79332 |
Pparg-Related Familial Partial Lipodystrophy |
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Hepatic steatosis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Hyperuricemia, Hypert... |
ORPHA:79083 |
Hemophagocytic Syndrome Associated With An Infection |
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Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepat... |
ORPHA:158048 |
Juvenile Idiopathic Arthritis |
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Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly, Pericardial effusion |
ORPHA:92 |
Congenital Dyserythropoietic Anemia Type Iii |
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Pallor, Short stature |
ORPHA:98870 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
Gaucher Disease, Perinatal Lethal |
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Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Ascites, Cardiomegaly, Thrombocytopenia |
OMIM:608013 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating ino... |
OMIM:613179 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ca... |
ORPHA:308552 |
Beta-Thalassemia Major |
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Dilated cardiomyopathy, Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin conc... |
ORPHA:231214 |
Gm1-Gangliosidosis, Type I |
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Dilated cardiomyopathy, Abnormal heart valve morphology, Vacuolated lymphocytes, Hypertrophic car... |
OMIM:230500 |
Omenn Syndrome |
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Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, L... |
ORPHA:39041 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
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Pallor |
OMIM:246450 |
Niemann-Pick Disease, Type C2 |
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Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Bone-marrow foam cells, Abnormal circula... |
OMIM:607625 |
Kaposiform Lymphangiomatosis |
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Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Pancreatic cysts, Splenomegaly, Abnormal splee... |
ORPHA:464329 |
Autoimmune Hepatitis |
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Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Ascites, Splenomegaly, Jaundice, Increased to... |
ORPHA:2137 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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Hypoproteinemia, Hypocalcemia, Pancreatic lymphangiectasis, Splenomegaly, Hepatomegaly, Pulmonary... |
OMIM:235255 |
Sandhoff Disease |
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Cardiomegaly, Hepatosplenomegaly, Hepatomegaly |
OMIM:268800 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Enlarged kidney, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenomegaly, Hepato... |
OMIM:263200 |
Scrub Typhus |
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Splenomegaly, Lymphadenopathy, Myocarditis |
ORPHA:83317 |
Niemann-Pick Disease, Type A |
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Microcytic anemia, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundic... |
OMIM:257200 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Abnormality of the liver, Portal hypertension, Decreased circulating ferritin concentration, Hype... |
ORPHA:309854 |
Mucopolysaccharidosis, Type Iiic |
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Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:252930 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
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Pallor |
ORPHA:13 |
Fucosidosis |
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Cardiomegaly, Hepatomegaly, Abnormality of the gallbladder |
ORPHA:349 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Elevated circulating creatine kinase concentration, Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
Cryoglobulinemic Vasculitis |
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Viral hepatitis, Abnormality of the liver, Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:91138 |
Myopathy, Mitochondrial, And Ataxia |
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Pallor, Short stature, Growth delay |
OMIM:617675 |
Hypocomplementemic Urticarial Vasculitis |
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Abnormal heart valve morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy, Ascites, Pericardia... |
ORPHA:36412 |
Gray Platelet Syndrome |
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Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia |
OMIM:139090 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Cardiomegaly |
OMIM:613320 |
Cone-Rod Dystrophy 8 |
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Pallor |
OMIM:605549 |
Sarcoidosis, Susceptibility To, 2 |
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Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:612387 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular septal defect, Ascites |
OMIM:616897 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
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Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
Hyperinsulinism Due To Hnf4A Deficiency |
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Pallor |
ORPHA:263455 |
Tay-Sachs Disease |
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Pallor |
OMIM:272800 |
Mucopolysaccharidosis-Plus Syndrome |