Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... |
OMIM:615382 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Abnormality of the anterior commissure, Agenesis of corpus callosum |
OMIM:617542 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... |
OMIM:615415 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly |
OMIM:206400 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... |
OMIM:208540 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... |
OMIM:607685 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... |
ORPHA:93108 |
Trimethylaminuria |
|
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Nephronophthisis 19 |
|
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... |
OMIM:616217 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Transposition of the great arte... |
OMIM:314390 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria |
OMIM:105200 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
Kaposiform Lymphangiomatosis |
|
Lymphangioma, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Multiple renal cysts,... |
ORPHA:464329 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Galactosemia Iii |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice |
OMIM:230350 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Nephritis, Atrial septal defect, Splenomegaly, Hypertrophic car... |
OMIM:617303 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:79238 |
Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal basal ganglia morphology, Small basal ganglia, Normal pressure hydrocephalus, Large basa... |
ORPHA:300570 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... |
OMIM:306955 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Proteinuria, Jaundice |
OMIM:620010 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, ... |
OMIM:232220 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Ascites, Cardiomegaly |
OMIM:269920 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the uret... |
ORPHA:1046 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari... |
OMIM:256550 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney, Hepatic fibrosis, Pol... |
OMIM:200995 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Long-chain dicarboxylic aciduria, Hepatomegaly, Hepatic calcif... |
OMIM:608836 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... |
OMIM:619313 |
Attrv30M Amyloidosis |
|
Nephropathy, Cardiomyopathy, Cardiomegaly, Abnormal renal physiology |
ORPHA:85447 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Micropenis, Scimitar anomaly, Accessory spleen, Hep... |
OMIM:618280 |
Tyrosinemia, Type I |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated urinary delta-aminolevu... |
OMIM:276700 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Thrombocytopenia, Ascites, Anemia, Lymphadenopathy, Jaundice, Cardiomegaly |
ORPHA:858 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Anemia, Cardiomyopathy |
OMIM:613313 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Ventricular septal defect, Renal hypoplasia, Hepatic fibrosis, Portal hypertension,... |
OMIM:616589 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system |
OMIM:271500 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... |
OMIM:121300 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... |
ORPHA:731 |
Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:611721 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hematuria, Hemolytic anemia, Target cel... |
OMIM:603903 |
Sandhoff Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:796 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Ascites, Jaundice, Cardiomegaly, Card... |
ORPHA:615 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Ca... |
OMIM:252920 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnormal heart valve morphology, Cardiomy... |
ORPHA:93476 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... |
OMIM:603552 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Harderoporphyria |
|
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Increased urinary porphobilinogen, Hemol... |
OMIM:618892 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD... |
OMIM:615559 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Nephrotic syndrome, Atrial septal defect, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Leukop... |
ORPHA:505248 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Cardiomyopathy, Splenomegaly |
OMIM:608540 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidney, Nephroblast... |
OMIM:608022 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu... |
ORPHA:449395 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Hepatocellular... |
OMIM:232200 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Neph... |
OMIM:130650 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... |
OMIM:615513 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cholestatic liver dise... |
ORPHA:79301 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Single ventricle, Hypoplastic lef... |
OMIM:601186 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Macroscopic hematuria, Membranoproliferative glomerulonephritis, Enlar... |
ORPHA:251004 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy, Ascites |
ORPHA:100025 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Splenomegaly |
ORPHA:664 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Dilated cardiomyopathy, Cardiomyopathy |
OMIM:602390 |
Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Follicular Lymphoma |
|
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Acute kidney injury, Proteinuria, Anemi... |
OMIM:618886 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly |
ORPHA:172 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Immunodeficiency 32B |
|
Splenomegaly |
OMIM:226990 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of the urinary system, Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Jaundice |
OMIM:619658 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... |
ORPHA:1414 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, In... |
OMIM:614377 |
H Syndrome |
|
Histiocytosis, Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged kidney, Microc... |
ORPHA:168569 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:613101 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice |
OMIM:214900 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Ascites, Cardiomyopathy, Cardiom... |
OMIM:235200 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney |
ORPHA:276280 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Renal insufficiency, Neutropenia, Anemia, Thrombocytope... |
ORPHA:79312 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Patent foramen ovale, Atrial septal defect, Hypoplastic spleen |
ORPHA:89844 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly |
OMIM:600649 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Lymphoid Interstitial Pneumonia |
|
Mediastinal lymphadenopathy, Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Portal fibrosis, Jaundice, Acholic stools |
OMIM:619868 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal hypertension, Portal... |
OMIM:616278 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Endocardial fibroelastosis, Decreased carnitine level in liver, Hypertrophic cardio... |
OMIM:212140 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Immunodeficiency 64 |
|
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... |
OMIM:618534 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... |
OMIM:300853 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Jaundice, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Ductal bile... |
OMIM:617394 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Hep... |
ORPHA:848 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Prolonged n... |
OMIM:616828 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia |
ORPHA:163596 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Alg9-Cdg |
|
Ureteral hypoplasia, Hepatomegaly, Periportal fibrosis, Atrial septal defect, Hypoplasia of the b... |
ORPHA:79328 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Hepatocellular carcinoma, Splenomegaly |
OMIM:613490 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:75234 |
Babesiosis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Hemolytic anemia, Renal insufficiency, Thrombocytopenia, ... |
ORPHA:108 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Lymp... |
OMIM:618495 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:612126 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatic steatosis, Renal tubular acidosis, Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:610333 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Bile duct proliferation, Portal ... |
OMIM:602347 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... |
ORPHA:98848 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:612526 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Glomerulonephritis, Cardiomegaly |
ORPHA:99931 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Pancytopenia |
OMIM:300635 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma, Abnormal right ventricle morphology, Bifid ureter, ... |
ORPHA:500095 |
Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Nephroblastoma, Ascites, Cardiomegaly, Pericardial constriction |
OMIM:253250 |
Spherocytosis, Type 4 |
|
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:612653 |
Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Ascites |
ORPHA:2414 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:37748 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, H... |
ORPHA:116 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice |
OMIM:185000 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Endocrine-Cerebroosteodysplasia |
|
Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Microphallus |
OMIM:612651 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Increased red cell hemolysis by shear... |
OMIM:194380 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Splenomegaly, Enlarged kidney, Mucopolysacchariduria, Hypertrophic cardiomyopathy, ... |
OMIM:252500 |
Gracile Bone Dysplasia |
|
Ascites, Hypoplastic spleen, Asplenia, Micropenis |
OMIM:602361 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Sialidosis Type 2 |
|
Ascites, Nephropathy, Hepatomegaly, Splenomegaly |
ORPHA:87876 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrolithiasis, Pancreatitis, Hepatomegaly, Abnormal myeloid leukocyte morphology, Increased hep... |
ORPHA:79259 |
Elliptocytosis 1 |
|
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly |
OMIM:611804 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Ventricular se... |
OMIM:615630 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:182900 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia |
ORPHA:158029 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Dicarboxylic aciduria, Exercise-induc... |
OMIM:201475 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... |
OMIM:615122 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... |
ORPHA:85451 |
Spherocytosis, Type 2 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:616649 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Micropenis,... |
OMIM:613673 |
Immunodeficiency, Common Variable, 2 |
|
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
OMIM:240500 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:2584 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:314050 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Gaucher Disease, Type Iii |
|
Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia |
OMIM:231000 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephrotic syndrome, Hepatomegaly, Nephritis, Coombs-positive hemolytic anemia, Splenomegaly, Neut... |
OMIM:603909 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Abnormal renal physiology, Hepatosplenomegaly, Hepat... |
ORPHA:158057 |
Leigh Syndrome With Nephrotic Syndrome |
|
Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegal... |
ORPHA:255249 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... |
OMIM:613470 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pericarditis, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:85414 |
Mevalonic Aciduria |
|
Splenomegaly |
ORPHA:29 |
Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
Free Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Proteinuria, Ascites |
ORPHA:834 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat... |
OMIM:150550 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Hematuria, Renal insuff... |
ORPHA:91138 |
Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:98375 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... |
OMIM:613011 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent urinary tract infections, Splenomegaly |
OMIM:614699 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... |
OMIM:115197 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney |
OMIM:613091 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, Anemia, Thrombocytop... |
ORPHA:290 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly |
OMIM:306000 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly, Abnormal renal physiology |
OMIM:266500 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Hemoglobinuria, Anisocytosis, Poikilocytosis, Fava bean... |
OMIM:300908 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Hematuria, Biliary tract obstruction, Ascites,... |
ORPHA:77259 |
Coach Syndrome 1 |
|
Abnormal abdomen morphology, Hepatomegaly, Nephronophthisis, Intrahepatic bile duct dilatation, U... |
OMIM:216360 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hepatic calcification, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dica... |
ORPHA:228308 |
Hereditary Orotic Aciduria |
|
Oroticaciduria, Aminoaciduria, Splenomegaly, Abnormality of the ureter, Anemia, Orotic acid cryst... |
ORPHA:30 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
Griscelli Syndrome Type 2 |
|
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice |
ORPHA:79477 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Caspase 8 Deficiency |
|
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatitis, Intrahepatic cholestasis, Jaundice, Acholic stools |
OMIM:613812 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Danon Disease |
|
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... |
OMIM:300257 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Nephrotic syndrome, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Lymphadenitis, Hepatospleno... |
OMIM:618935 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly |
OMIM:618541 |
Immunodeficiency 54 |
|
Lymphadenopathy, Hepatomegaly, Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
Ogden Syndrome |
|
Global glomerulosclerosis, Bicuspid aortic valve, Microvesicular hepatic steatosis, Secundum atri... |
OMIM:300855 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated urinary 3-hydroxybutyric acid, Hepatic steatosis, C... |
ORPHA:42 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Pancyto... |
ORPHA:507 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... |
OMIM:612714 |
Gaucher Disease, Type Ii |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:230900 |
Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Right ventricular hypertrophy, Splenomegaly, Pulmonic stenosis, Patent ... |
OMIM:616028 |
Transaldolase Deficiency |
|
Hepatomegaly, Micronodular cirrhosis, Atrial septal defect, Splenomegaly, Cirrhosis, Hepatospleno... |
OMIM:606003 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:391 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... |
ORPHA:824 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microcephaly, Hypoplasia of the corpus callosum, Hypoplastic anterior commissure |
OMIM:616975 |
Legionnaires Disease |
|
Pancreatitis, Lymphopenia, Splenomegaly, Endocarditis, Hematuria, Myocarditis, Hepatitis, Renal i... |
ORPHA:549 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulminant hepatitis, Ap... |
OMIM:308240 |
Wolman Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Bone-marrow foam cells, Ascites |
ORPHA:75233 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Myocarditis, Generalized lymphadenopathy,... |
ORPHA:829 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Splenomegaly, Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal... |
ORPHA:36412 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Hepatomegaly, Splenomegaly, Aplastic anemia, Hemolytic anemia, Dilated cardiomyopath... |
ORPHA:398124 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... |
ORPHA:3226 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... |
OMIM:619824 |
Mucopolysaccharidosis, Type Iiia |
|
Asymmetric septal hypertrophy, Heparan sulfate excretion in urine, Hepatomegaly, Splenomegaly |
OMIM:252900 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Histiocytosis, Hepatomegaly, Atrial septal defect, Splenomegaly, Cervical lymphadenopathy, Microp... |
OMIM:602782 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Atrial septal defect, Splenomegaly, Unilateral renal agenesis, Cirrhosis, Hyperecho... |
OMIM:614576 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Bile duct proliferation |
OMIM:613027 |
Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Portal hyper... |
ORPHA:465508 |
Omenn Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte m... |
ORPHA:39041 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Splenomegaly, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Ja... |
ORPHA:90033 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly |
OMIM:618042 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B... |
OMIM:301078 |
Scrub Typhus |
|
Lymphadenopathy, Renal insufficiency, Myocarditis, Splenomegaly |
ORPHA:83317 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Hypoplasia of the thymus, Overriding aorta, Cardiomegaly |
OMIM:617022 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, Splenomegaly, Schistocytosis, B lymphocytopenia, Hypochromic microcytic anemia, Si... |
OMIM:616084 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... |
OMIM:251880 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Renal cyst, Rena... |
OMIM:614866 |
Tangier Disease |
|
Left ventricular hypertrophy, Hepatomegaly, Splenomegaly |
OMIM:205400 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Splenomegaly |
OMIM:235555 |
Leprechaunism |
|
Hepatomegaly, Hypercalciuria, Long penis, Enlarged kidney, Enlarged ovaries, Hypertrophic cardiom... |
ORPHA:508 |
Fetal Gaucher Disease |
|
Hepatomegaly, Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia |
ORPHA:85212 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Leukopenia, Throm... |
OMIM:278000 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... |
OMIM:211600 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:608885 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Hypospadias, Ventricular septal defect, Ascites, Hydronephrosis, Hypertrophic cardiom... |
OMIM:616897 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... |
ORPHA:381 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Splenomegaly, Cirrhosis, Myoglobinuria, Hepatocellular carc... |
ORPHA:370 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... |
ORPHA:231222 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... |
ORPHA:53035 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hepatoblastoma, Atrial septal defect, Splenomegaly, Right ventricular hypertrophy, ... |
OMIM:312870 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Schistocytosis, Hemoly... |
OMIM:224120 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... |
OMIM:602450 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy |
ORPHA:3386 |
Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... |
ORPHA:2041 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Glycosuria, Proteinuria, Hypoplastic spleen, Pan... |
ORPHA:699 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly |
OMIM:618398 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Renal hypoplasia, Nephroblastoma, Splenomegaly |
OMIM:612918 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Lipogranulomatosis, Splenomegaly |
OMIM:228000 |
Fucosidosis |
|
Glycopeptiduria, Hepatomegaly, Vacuolated lymphocytes, Oligosacchariduria, Splenomegaly, Cardiome... |
OMIM:230000 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly, Urinary incontinence |
OMIM:105210 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly |
OMIM:239850 |
Muckle-Wells Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Renal amyloidosis, Anemia |
ORPHA:575 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... |
ORPHA:100026 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Urinary incontinence |
OMIM:268800 |
Fucosidosis |
|
Abnormality of the gallbladder, Hepatomegaly, Mucopolysacchariduria, Cardiomegaly |
ORPHA:349 |
Mirage Syndrome |
|
Lymphopenia, Hypospadias, Leukopenia, Recurrent urinary tract infections, Hypoplastic spleen, Ane... |
OMIM:617053 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:619183 |
Gaucher Disease, Type I |
|
Hepatomegaly, Aortic valve stenosis, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Hypers... |
OMIM:230800 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Portal hypertension, Ascites, ... |
ORPHA:131 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Ventricular septal defect, H... |
OMIM:614921 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Jaundice, ... |
OMIM:607765 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent urinary tract infections, Abnormal lymphocyte morphology, T... |
ORPHA:47612 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Cirrhosis, Left ventricular hypertrophy, Left atrial enla... |
ORPHA:57777 |
Aredyld Syndrome |
|
Abnormality of the ureter, Hepatomegaly, Splenomegaly |
ORPHA:1133 |
Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... |
ORPHA:86843 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Abnormality of the lower urinary tract, Abnormal concentration of ac... |
ORPHA:391428 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... |
ORPHA:822 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Increased hepatic glycogen content, 3-Methylglutaconic aciduria, Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Renal cyst, Polycystic kidney dys... |
OMIM:610199 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis, Jaundice |
OMIM:618641 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Abnormality of the urinary system, Dilated ca... |
OMIM:230500 |
Sézary Syndrome |
|
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:3162 |
Immunodeficiency 36 |
|
Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decre... |
OMIM:616005 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... |
OMIM:618278 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphadenitis, Cholestasis, Dilated cardiomyopathy, Hep... |
OMIM:615895 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... |
ORPHA:3202 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mitral valve prolapse, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiom... |
ORPHA:324410 |
Mucopolysaccharidosis, Type Iiic |
|
Asymmetric septal hypertrophy, Heparan sulfate excretion in urine, Hepatomegaly, Splenomegaly |
OMIM:252930 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Splenomegaly, Micropenis, Pulmonary lymphangiectasia, Ventricular septal defect, Pa... |
OMIM:235255 |
Scheie Syndrome |
|
Hepatomegaly, Mucopolysacchariduria, Splenomegaly |
ORPHA:93474 |
Wilson Disease |
|
Hepatomegaly, Acute hepatitis, Splenomegaly, Cirrhosis, Thrombocytopenia, Hepatitis, Anemia, Hepa... |
ORPHA:905 |
Familial Tumoral Calcinosis |
|
Nephrocalcinosis, Hepatomegaly, Splenomegaly |
ORPHA:53715 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Ascites, Anemia, Thrombocytopenia, Cardiomegaly |
OMIM:608013 |
Mucopolysaccharidosis Type 6 |
|
Abnormal heart valve morphology, Mucopolysacchariduria, Splenomegaly |
ORPHA:583 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... |
OMIM:616100 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Hepatomegaly, Hepatoblastoma, Lymphopenia, Splenomegaly, Atrial septal def... |
ORPHA:84064 |
Majeed Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Congenital hypoplastic anemia, Hypochromic microcytic a... |
ORPHA:77297 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... |
ORPHA:288 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Splenomegaly, Cardiomegaly, Urinary incontinence |
OMIM:232300 |
Essential Thrombocythemia |
|
Acute leukemia, Abnormal platelet morphology, Splenomegaly |
ORPHA:3318 |
Gaucher Disease Type 3 |
|
Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcification, Hematuria, Pr... |
ORPHA:77261 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly |
OMIM:618394 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Renal insufficiency, Patent foramen ovale, Thrombocytopenia, Jaundice |
OMIM:251290 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Micropenis, Pulmonary lymphangiectasia, Hepatosplenomegaly, Abnormal ... |
ORPHA:1655 |
Q Fever |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Endocarditis, Hematuria, Myocarditis, Cholecystit... |
ORPHA:781 |
Juvenile Idiopathic Arthritis |
|
Mediastinal lymphadenopathy, Hepatomegaly, Pericardial effusion, Splenomegaly |
ORPHA:92 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hepatomegaly, Splenomegaly |
OMIM:207750 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Lymphopenia, Secundum atrial septal defect, Splenomegaly, Pulmonic stenosis, Hypopl... |
OMIM:612541 |
Macrophage Activation Syndrome |
|
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Hepatitis, Abnormal ... |
ORPHA:158061 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Ascites, Cardiomyopathy, Cardiomegaly |
OMIM:261740 |
Mixed Connective Tissue Disease |
|
Hepatomegaly, Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Nephropathy, Myocarditis, He... |
ORPHA:809 |
Mcleod Syndrome |
|
Hepatomegaly, Splenomegaly, Acanthocytosis, Dilated cardiomyopathy, Cardiomyopathy |
OMIM:300842 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Hepatomegaly, Hemophagocytosis, Abnormal renal physiology, Splenomegal... |
ORPHA:540 |
Primary Lipodystrophy |
|
Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Cardiomyopathy |
ORPHA:90970 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly |
OMIM:153670 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... |
ORPHA:1329 |
Mogs-Cdg |
|
Hepatomegaly, Atrial septal defect, Left ventricular hypertrophy, Hepatosplenomegaly, Thrombocyto... |
ORPHA:79330 |
Sarcoidosis, Susceptibility To, 2 |
|
Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:612387 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Cirr... |
ORPHA:231226 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Card... |
ORPHA:308552 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Polyuria, Hypercalciuria, Hyperphosphaturia, Anemia |
OMIM:239200 |
Hardikar Syndrome |
|
Hepatomegaly, Hypoplasia of the bladder, Bladder exstrophy, Cholestasis, Ventricular septal defec... |
OMIM:301068 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Splenomegaly, Cirrhosis, Myoglobinuria, Abnormal erythrocyt... |
ORPHA:264580 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
ORPHA:169090 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... |
ORPHA:231214 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly |
OMIM:139090 |
Familial Mediterranean Fever |
|
Nephrotic syndrome, Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Peritonitis, Renal am... |
OMIM:249100 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Splenomegaly, Hemoglobinuria, Norm... |
OMIM:611881 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly |
ORPHA:33577 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly, Renal artery stenosis |
OMIM:208000 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Ab... |
ORPHA:363705 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Enlarged tonsils, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosing cholangiti... |
OMIM:308230 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of neutrophils, Liver abscess |
ORPHA:379 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Myocarditis, Incr... |
ORPHA:2442 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Myeloproli... |
ORPHA:98849 |
Hyperlipoproteinemia, Type I |
|
Hepatosplenomegaly, Pancreatitis, Jaundice, Splenomegaly |
OMIM:238600 |
Hyper-Igd Syndrome |
|
Neutrophilia, Leukocytosis, Splenomegaly, Renal angiomyolipoma, Lymphadenitis, Hepatosplenomegaly... |
OMIM:260920 |
Familial Mediterranean Fever |
|
Nephrotic syndrome, Pancreatitis, Splenomegaly, Peritonitis, Nephropathy, Proteinuria, Pericardit... |
ORPHA:342 |
Isolated Biliary Atresia |
|
Dark yellow urine, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Cholestasis, Atret... |
ORPHA:30391 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Renal artery atherosclerosis, Pancreatitis, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly, A... |
ORPHA:565612 |
Niemann-Pick Disease, Type C1 |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice, Fetal ascites, B... |
OMIM:257220 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Pollakisuria, Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
Microphthalmia, Syndromic 6 |
|
Aplasia of the optic tract |
OMIM:607932 |
Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Heparan sulf... |
ORPHA:581 |
Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart morphology |
OMIM:114620 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutr... |
OMIM:214500 |
Liver Disease, Severe Congenital |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Pancreatic hypoplasia, Ventricular septal defect... |
OMIM:619991 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Focal hypointensity of cerebral white matter on MRI, Large basal ganglia, Hypoplastic anterior co... |
ORPHA:261552 |
8P11.2 Deletion Syndrome |
|
Atrial septal defect, Hypoplasia of penis, Spherocytosis, Splenomegaly, Hemolytic anemia, Mitral ... |
ORPHA:251066 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati... |
OMIM:619418 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... |
OMIM:233710 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Lymphadenopathy |
OMIM:617591 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Lymphopenia, Diffuse mesangial sclerosis, Splenomegaly, Aplasia of the thymus, Seve... |
OMIM:102700 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Portal hypertension, Bil... |
ORPHA:567983 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Pulmonic stenosis, Hypospadias, Cirrhosis, Cholestasis, Abnormality o... |
OMIM:222470 |
Multiple Myeloma |
|
Nephrotic syndrome, Splenomegaly, Nephropathy, Acute kidney injury, Abnormality of the bladder, A... |
ORPHA:29073 |
Truncus Arteriosus |
|
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Hypoplasia of the thymus,... |
ORPHA:3384 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Abnormality of the hepatic vasculature, Hepatomegaly, Right ventricular... |
ORPHA:1677 |
Hyperlipoproteinemia, Type Id |
|
Pancreatitis, Hepatomegaly, Recurrent pancreatitis, Splenomegaly |
OMIM:615947 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormality of the thymus, Cardiomegaly |
ORPHA:2463 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... |
OMIM:233690 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:1517 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Giant platele... |
OMIM:210250 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Lymphopenia, Leukocytosis, Splenomegaly, Renal artery aneurysm, Hepatosplenomegaly,... |
OMIM:615688 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... |
ORPHA:3261 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Accessory s... |
OMIM:300972 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... |
OMIM:620066 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Familial Thrombocytosis |
|
Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly |
ORPHA:71493 |
Lysinuric Protein Intolerance |
|
Oroticaciduria, Hepatomegaly, Pancreatitis, Aminoaciduria, Hemophagocytosis, Splenomegaly, Leukop... |
OMIM:222700 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Brucellosis |
|
Abnormality of the liver, Hepatomegaly, Intrarenal abscess, Leukocytosis, Splenomegaly, Leukopeni... |
ORPHA:1304 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Abnormal biliary tract morphology, Cholangiocarcinoma, Hepatomegaly, Pancreatitis... |
ORPHA:171 |
Hemophagocytic Syndrome Associated With An Infection |
|
Neutropenia, Hepatomegaly, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, P... |
ORPHA:158048 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Renal cyst, Hepatomegaly, Cardiomegaly |
ORPHA:137675 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... |
OMIM:245600 |
Hennekam Syndrome |
|
Lymphangioma, Lymphopenia, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney, Ectopic ki... |
ORPHA:2136 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Nephrolithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hemoglobin A1c, Acute pancreatit... |
OMIM:269700 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology, Nephroblastoma, Urinary ret... |
ORPHA:97297 |
Common Variable Immunodeficiency |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Lymphadenopathy, Abnorm... |
ORPHA:1572 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Eosinop... |
ORPHA:75565 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Micropenis, Hepatosplenomegaly, Chronic lymphatic leukemia,... |
ORPHA:51 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... |
OMIM:306400 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Nephrolithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Acute pancreatitis, Hepatic steatosis, Ca... |
OMIM:608594 |
Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... |
ORPHA:95430 |
Abetalipoproteinemia |
|
Hepatomegaly, Cirrhosis, Reticulocytosis, Acanthocytosis, Hepatic fibrosis, Anemia, Hepatic steat... |
ORPHA:14 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... |
ORPHA:980 |
Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Splenomegaly, Hemolytic anemia, Pink urine, Thrombocytopenia |
OMIM:263700 |
Okamoto Syndrome |
|
Abnormal heart morphology, Abnormal mitral valve morphology, Aortic valve stenosis, Primum atrial... |
ORPHA:2729 |
Williams Syndrome |
|
Cholelithiasis, Abnormal cardiac septum morphology, Ventricular septal defect, Proteinuria, Abnor... |
ORPHA:904 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Hepatomegaly, Cardiomegaly |
ORPHA:96191 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Card... |
ORPHA:365 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hepatomegaly, Atrioventricular canal defect, Cholestasis, Ventricular septal defect, Cor triatria... |
OMIM:619534 |
Reynolds Syndrome |
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Biliary cirrhosis, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:613471 |
Congenital Total Pulmonary Venous Return Anomaly |
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Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Hepatomegaly,... |
ORPHA:99125 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Atrioventricular canal defect, Horseshoe kidney, Hepatomegaly, Splenomegaly |
OMIM:617088 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... |
OMIM:300967 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Splenomegaly, Microcytic anemia, Thrombocytopenia, Cardiomegaly, Lymphadenopathy |
OMIM:256040 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Cardiomegaly |
ORPHA:79280 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Cholelithiasis, Neoplasm of the liver, Hepatomegaly, Splenomegaly, Cirrhosis, Autoimmune thromboc... |
ORPHA:77293 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Generalized Arterial Calcification Of Infancy |
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Medullary nephrocalcinosis, Hepatic calcification, Pancreatic calcification, Pericardial effusion... |
ORPHA:51608 |
Yunis-Varon Syndrome |
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