Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder, Hepatomegaly, Eosi... |
OMIM:607685 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Splenomegaly, Hepatomegaly |
OMIM:617068 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia |
ORPHA:228312 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis |
OMIM:269600 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly |
OMIM:271500 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly |
OMIM:614480 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Alpha-Thalassemia |
|
Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia... |
ORPHA:846 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Galactose Epimerase Deficiency |
|
Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Anemia, Hepatomegaly, Splenomegaly, Cardiomyopathy |
OMIM:613313 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly |
OMIM:611721 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Abnormal heart valve morphology, Cardiomy... |
ORPHA:93476 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Cardiomegal... |
ORPHA:615 |
Galactosemia Iii |
|
Jaundice, Splenomegaly, Hepatomegaly |
OMIM:230350 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Congenital Toxoplasmosis |
|
Anemia, Ascites, Jaundice, Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thrombocytopenia |
ORPHA:858 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100024 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly |
OMIM:620010 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... |
OMIM:615513 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... |
OMIM:614470 |
Dermatitis, Atopic |
|
Facial erythema, Dry skin, Pallor |
OMIM:603165 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... |
OMIM:617514 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... |
OMIM:615631 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Sandhoff Disease |
|
Splenomegaly, Hepatomegaly |
ORPHA:796 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... |
OMIM:603552 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Ventricular septal defect, Atrial septal defect, Pallor |
ORPHA:49827 |
Follicular Lymphoma |
|
Splenomegaly, Lymphadenopathy, Abnormality of the peritoneum, Mediastinal lymphadenopathy |
ORPHA:545 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Growth delay, Pallor |
OMIM:613561 |
Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:100025 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Hepatomegaly,... |
ORPHA:79301 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly |
OMIM:269920 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Jaundice, Hepatic bridging fibrosis, Cholestasis, Splenomegaly |
OMIM:619658 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
Laterality Defects, Autosomal Dominant |
|
Asplenia, Situs inversus totalis |
OMIM:601086 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Dilated cardiomyopathy, Hepatomegaly, Splenomegaly, Cardiomyopathy |
OMIM:602390 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly |
ORPHA:172 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... |
OMIM:616217 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy |
OMIM:617713 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Growth delay, Pallor |
OMIM:500007 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
Elliptocytosis 1 |
|
Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia |
OMIM:611804 |
Sickle Cell Disease |
|
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Jaundice, Splenic infarction, Leuko... |
OMIM:603903 |
Fish-Eye Disease |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:98293 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy |
OMIM:608540 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:607616 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly |
OMIM:185000 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Splenomegaly |
OMIM:214900 |
Neuraminidase Deficiency |
|
Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly... |
OMIM:256550 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly |
OMIM:613101 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615010 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Nonspherocytic hemolyt... |
OMIM:235700 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Jaundice, Portal fibrosis, Hepatomegaly, Iron deficiency anemia, Portal hyperte... |
OMIM:616278 |
Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:252920 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Hydrocephalus, Pallor |
ORPHA:163596 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis |
OMIM:182900 |
Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Splenomegaly, Hepatomegaly |
OMIM:261750 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... |
OMIM:616689 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Cardiomegaly, Macrovesicular hepatic steatosis, Hepatomegaly |
OMIM:600649 |
Overhydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Acholic stools, Portal fibrosis, Hepatomegaly, Splenomegaly |
OMIM:619868 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... |
ORPHA:2585 |
Dysplastic Cortical Hyperostosis |
|
Splenomegaly, Hepatomegaly |
ORPHA:2204 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati... |
OMIM:231005 |
Hemochromatosis, Type 1 |
|
Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly, Cardiomyo... |
OMIM:235200 |
Pfapa Syndrome |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:42642 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Splenomegaly, Hepatomegaly, Hepatic bridging fibrosis |
OMIM:616719 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Hepatocellular carcinoma, Splenomegaly |
OMIM:613490 |
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 |
Cholesteryl Ester Storage Disease |
|
Jaundice, Cirrhosis, Splenomegaly, Hepatomegaly |
ORPHA:75234 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly |
ORPHA:77260 |
Beta-Thalassemia |
|
Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Thrombocytopenia, A... |
ORPHA:848 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... |
OMIM:618534 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:178320 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... |
OMIM:612840 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:612126 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615085 |
Rheumatic Fever |
|
Endocarditis, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Pallor, Pericar... |
ORPHA:3099 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cirrhosis, Hepatosplenomegaly, Hepatomegaly, Cholestatic liver disease, Prolonged neonatal jaundi... |
OMIM:616828 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... |
OMIM:209950 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr... |
OMIM:602347 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Chylopericardium, Hepatomegaly, Ascites, Pulmonic stenosis |
ORPHA:2414 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:612526 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... |
OMIM:613470 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Truncus arteriosus, Ventricular septal defect, Portal hypertension, Splenomegaly |
OMIM:616589 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... |
ORPHA:98848 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Thrombocytopenia, Hepatomega... |
OMIM:619463 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... |
ORPHA:860 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:618495 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegaly, Elevated hepatic iron co... |
OMIM:615234 |
Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:610333 |
Heterotaxy, Visceral, 4, Autosomal |
|
Midline liver, Atrioventricular canal defect, Ventricular septal defect, Transposition of the gre... |
OMIM:613751 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Pancytopenia, Hemophagocytosis, Hepatomegaly, Aplastic anemia, Splenomegaly |
OMIM:300635 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pericarditis, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:85414 |
Schnitzler Syndrome |
|
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly |
ORPHA:37748 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Splenomegaly, Hepatomegaly |
OMIM:618107 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276556 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia |
OMIM:618838 |
Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy, Hemolytic anemia, Hepatomegaly |
ORPHA:56425 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Generalized lymphadenopathy, Hepatosplenomegaly, Autoimmune thrombocytope... |
OMIM:615559 |
Fanconi Anemia, Complementation Group I |
|
Patent foramen ovale, Ventricular septal defect, Short stature, Atrial septal defect, Pallor, Int... |
OMIM:609053 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly |
OMIM:618892 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly |
ORPHA:59303 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Cholecystitis, Chronic hemolytic anemia, Decrea... |
OMIM:266200 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Cardiac amyloidosis, Hypertroph... |
ORPHA:85451 |
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, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly |
OMIM:240500 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly, Cardiomyopathy |
ORPHA:79312 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276575 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly |
OMIM:306000 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:231000 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Splenomegaly, Leukocytosis |
OMIM:611762 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276580 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... |
OMIM:613011 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Timothy Syndrome |
|
Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect |
OMIM:601005 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology |
ORPHA:2584 |
Adams-Oliver Syndrome 5 |
|
Patent foramen ovale, Hypersplenism, Pulmonic stenosis, Portal vein thrombosis, Right ventricular... |
OMIM:616028 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Hypertrophi... |
OMIM:212140 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... |
OMIM:601847 |
Mulibrey Nanism |
|
Pericardial constriction, Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Ascites |
OMIM:253250 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... |
OMIM:607594 |
Sclerosing Cholangitis, Neonatal |
|
Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic stools, Portal fibrosis, ... |
OMIM:617394 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Anemia, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia |
OMIM:618886 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... |
OMIM:194380 |
Griscelli Syndrome Type 2 |
|
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, Splenomegaly |
ORPHA:79477 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Myofiber disarray, Ventricular hypertrophy, Pericardial effusion, Ventricular septal hypertrophy,... |
OMIM:115197 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Caspase 8 Deficiency |
|
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... |
ORPHA:3092 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly |
OMIM:614702 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
Macrophage Activation Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of inadequate production, Splen... |
OMIM:612714 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly |
OMIM:614699 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal defect |
OMIM:618652 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:611490 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:609981 |
Congenital Rubella Syndrome |
|
Anemia, Ventricular septal defect, Jaundice, Atrial septal defect, Hepatomegaly, Thrombocytopenia... |
ORPHA:290 |
Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
Wolman Disease |
|
Anemia, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:75233 |
Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:507 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor |
OMIM:611590 |
Evans Syndrome |
|
Petechiae, Pallor |
ORPHA:1959 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly |
ORPHA:391 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Increased hepatic glycogen content, Bile duct proliferation, Hepatomegaly, Splenomegaly |
OMIM:613027 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Jaundice, Splenomegaly, Hepatomegaly, Intrahepatic cholestasis |
OMIM:235555 |
Neonatal Lupus Erythematosus |
|
Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytop... |
ORPHA:398124 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... |
OMIM:226990 |
Transaldolase Deficiency |
|
Patent foramen ovale, Hepatic fibrosis, Cirrhosis, Anemia, Ventricular septal defect, Pancytopeni... |
OMIM:606003 |
Adult-Onset Still Disease |
|
Hepatitis, Neutrophilia, Generalized lymphadenopathy, Pericarditis, Bone marrow hypocellularity, ... |
ORPHA:829 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Hepatomegaly, Myeloproli... |
ORPHA:3226 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:619051 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt... |
OMIM:308240 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... |
OMIM:301078 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Primary Myelofibrosis |
|
Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphaden... |
ORPHA:824 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:540 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Hemophagocytosis, Splenomegaly, Pancytopenia |
OMIM:618398 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... |
OMIM:211600 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt... |
OMIM:619824 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Enlarged kidney, Poly... |
OMIM:208540 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... |
OMIM:224120 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anis... |
OMIM:300908 |
American Trypanosomiasis |
|
Cardiomyopathy, Myocarditis, Pallor |
ORPHA:3386 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Hepatic steatosis, Hypertrophic cardiomyopathy, Hep... |
OMIM:201475 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... |
OMIM:602450 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Abdominal sit... |
OMIM:306955 |
Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:100026 |
Fetal Gaucher Disease |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Abnormality of the spleen, Splenomegaly |
ORPHA:85212 |
Coronary Arterial Fistula |
|
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... |
ORPHA:2041 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... |
OMIM:603909 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatic steatosis, Cardiomegaly, Hepatomegaly |
OMIM:255120 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Autoimmune Hemolytic Anemia |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia |
ORPHA:98375 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Delayed puberty, Growth delay, Pallor |
OMIM:600462 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... |
ORPHA:86843 |
Griscelli Syndrome |
|
Leukopenia, Hepatitis, Jaundice, Abnormality of neutrophils, Lymphadenopathy, Bone marrow hypocel... |
ORPHA:381 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cirrhosis, Cholangiocarcinoma, Hepatocellular carcinoma, Hepatomegaly, Cardiomegaly, Portal hyper... |
ORPHA:465508 |
Gaucher Disease, Type I |
|
Anemia, Hypersplenism, Pancytopenia, Hepatomegaly, Aortic valve stenosis, Thrombocytopenia, Splen... |
OMIM:230800 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Hepatic fibrosis, Cirrhosis, Anemia, Periportal fibrosis, Increased hepatic echogenic... |
OMIM:278000 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:619183 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Jaundice, Acholic stools, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly... |
OMIM:607765 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
Budd-Chiari Syndrome |
|
Cirrhosis, Jaundice, Cholecystitis, Hepatomegaly, Portal hypertension, Ascites, Peritonitis, Sple... |
ORPHA:131 |
Gaucher Disease Type 1 |
|
Leukopenia, Cirrhosis, Anemia, Pericardial effusion, Hypersplenism, Pancytopenia, Biliary tract o... |
ORPHA:77259 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor |
ORPHA:439218 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... |
OMIM:603554 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Cirrhosis, Hepatitis, Jaundice, Acholic stools, Hepatic bridging fibrosis, Intrahepatic cholestas... |
OMIM:613812 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Hemolytic anemia, Lymphopenia, Hepatosplenomegaly, Acute pancreatitis, Lymphadenop... |
OMIM:618935 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... |
ORPHA:439 |
Cantu Syndrome |
|
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve |
OMIM:239850 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Dehydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... |
ORPHA:3202 |
Aorta Coarctation |
|
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... |
ORPHA:1457 |
Tangier Disease |
|
Left ventricular hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:205400 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Retroperitoneal fibrosis, Ventricular septal defect, Pulmonic stenosis, Mi... |
OMIM:602782 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Cardiomegaly, Hepatomegaly |
ORPHA:42 |
Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Spontaneous hemolytic crises, ... |
ORPHA:822 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Cirrhotic Cardiomyopathy |
|
Cirrhosis, Jaundice, Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiom... |
ORPHA:57777 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... |
OMIM:616005 |
Essential Thrombocythemia |
|
Abnormal platelet morphology, Splenomegaly, Acute leukemia |
ORPHA:3318 |
Mucopolysaccharidosis, Type Iiia |
|
Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:252900 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Infantile Liver Failure Syndrome 3 |
|
Jaundice, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasis, Hepatomegaly, Splenomegaly |
OMIM:618641 |
Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Splenomegaly, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaun... |
ORPHA:288 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Cirrhosis, Abnormality of the liver, Increased HbA2 hemoglobin, Jaundice, Extrame... |
ORPHA:231222 |
Sézary Syndrome |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology |
ORPHA:3162 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve pro... |
ORPHA:324410 |
Felty Syndrome |
|
Anemia, Pericarditis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopeni... |
ORPHA:47612 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomeg... |
OMIM:616100 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count |
OMIM:618394 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia |
ORPHA:90033 |
Sandhoff Disease |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:268800 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necro... |
OMIM:618278 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Pallor |
ORPHA:98870 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Juvenile Idiopathic Arthritis |
|
Pericardial effusion, Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:92 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
Omenn Syndrome |
|
Anemia, Lymphadenopathy, Eosinophilia, Hepatomegaly, Leukocytosis, Splenomegaly, Abnormal lymphoc... |
ORPHA:39041 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Abnormal erythrocyte enzyme level, Portal ... |
ORPHA:370 |
Gaucher Disease, Perinatal Lethal |
|
Anemia, Ascites, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly |
OMIM:608013 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules |
OMIM:139090 |
Primary Lipodystrophy |
|
Cirrhosis, Splenomegaly, Hepatic steatosis, Pancreatitis, Cardiomyopathy |
ORPHA:90970 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Pericardial effusion, Enlarged kidney, Abnormal spleen morphology, Abno... |
ORPHA:464329 |
Mcleod Syndrome |
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Dilated cardiomyopathy, Hepatomegaly, Splenomegaly, Acanthocytosis, Cardiomyopathy |
OMIM:300842 |
Mogs-Cdg |
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Left ventricular hypertrophy, Atrial septal defect, Hepatosplenomegaly, Hepatomegaly, Cardiomegal... |
ORPHA:79330 |
Sarcoidosis, Susceptibility To, 2 |
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Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:612387 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Fucosidosis |
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Cardiomegaly, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly |
OMIM:230000 |
Hyperlipoproteinemia, Type I |
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Jaundice, Pancreatitis, Splenomegaly, Hepatosplenomegaly |
OMIM:238600 |
Fucosidosis |
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Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly |
ORPHA:349 |
Nodular Non-Suppurative Panniculitis |
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Splenomegaly, Hepatomegaly |
ORPHA:33577 |
Dominant Beta-Thalassemia |
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Skin ulcer, Dilated cardiomyopathy, Pallor, Delayed puberty, Growth delay |
ORPHA:231226 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Ventricular septal defect |
OMIM:616897 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
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Intrahepatic biliary atresia, Hepatic fibrosis, Sclerosing cholangitis, Jaundice, Bile duct proli... |
OMIM:607626 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
Complete Atrioventricular Septal Defect |
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Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... |
ORPHA:1329 |
Sweet Syndrome |
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Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Lethal Congenital Contracture Syndrome 10 |
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Cardiomegaly, Overriding aorta, Hypoplasia of the thymus, Ventricular septal defect |
OMIM:617022 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Hsd10 Disease, Infantile Type |
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Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
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Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:169090 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Lymphadenitis, Hepatic fibrosis, Anemia, Dilated cardiomyopathy, Lymphadenopathy, Cholestasis, He... |
OMIM:615895 |
Caroli Disease |
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Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Periportal fibrosis, Liver abscess, Jaundice, Cho... |
ORPHA:53035 |
Beta-Thalassemia Major |
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Hepatic fibrosis, Cirrhosis, Hypersplenism, Anisopoikilocytosis, Reduced hemoglobin A, Hepatocell... |
ORPHA:231214 |
Congenital Disorder Of Glycosylation, Type It |
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Ventricular septal defect, Hepatitis, Dilated cardiomyopathy, Intrahepatic cholestasis, Hepatic s... |
OMIM:614921 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Growth delay, Pallor |
ORPHA:300298 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Increased hepatic glycogen content, Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Hepatomegaly, C... |
OMIM:308230 |
Glycogen Storage Disease Ii |
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Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:232300 |
Q Fever |
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Endocarditis, Anemia, Abnormality of the liver, Hepatitis, Pericardial effusion, Abnormal heart v... |
ORPHA:781 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Danon Disease |
|
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Ca... |
OMIM:300257 |
Scheie Syndrome |
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Splenomegaly, Hepatomegaly |
ORPHA:93474 |
Craniofaciofrontodigital Syndrome |
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Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Aor... |
ORPHA:363705 |
Chronic Granulomatous Disease |
|
Liver abscess, Abnormality of neutrophils, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:379 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Increased mean platelet volume |
OMIM:153670 |
Niemann-Pick Disease, Type C1 |
|
Sea-blue histiocytosis, Fetal ascites, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal j... |
OMIM:257220 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interferon-gamma concentration, Increased circulating interleukin 6 concent... |
ORPHA:542323 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Sideroblastic anemia, Hypochromic microcytic anemia, Schistocytosis, Splenomeg... |
OMIM:616084 |
Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Pancreatitis, Splenomegaly, Hepatomegaly |
OMIM:615947 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
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 |
Gaucher Disease Type 3 |
|
Mitral valve calcification, Anemia, Pericardial effusion, Abnormal heart valve morphology, Pancyt... |
ORPHA:77261 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Short stature, Atrial septal defect, Pallor, Tricuspid stenosis, Intra... |
OMIM:105650 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Jaundice, Hepatic steatosis, Hepatomegaly, Chol... |
ORPHA:567983 |
Sepsis In Premature Infants |
|
Purpura, Petechiae, Pallor |
ORPHA:90051 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Fumarase Deficiency |
|
Pallor |
OMIM:606812 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly |
ORPHA:308552 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:617591 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Enlarged kidney, Hepatomegaly, Hepatic c... |
OMIM:263200 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233690 |
Rare Circulatory System Disease |
|
Pallor |
ORPHA:98028 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Dilated cardiomyopathy, Hepatic calcification, Hepatomegaly, Cardiomegaly, Lipid... |
OMIM:608836 |