Fetal Cytomegalovirus Syndrome |
|
Sensorineural hearing impairment, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, EEG with irregular generalize... |
OMIM:601068 |
Gallbladder Disease 1 |
|
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... |
OMIM:600803 |
Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Elevated hepatic transaminase, Iron deficiency anemia |
OMIM:300752 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... |
OMIM:618195 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... |
ORPHA:65682 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... |
OMIM:613470 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... |
OMIM:210500 |
Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas |
ORPHA:438274 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:182900 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Optic atrophy, Cholelithiasis, Giant cell hepatitis, Jaundice |
OMIM:214980 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Cholelithiasis, Hepatomegaly, Jaundice, Intrahepatic cholestasis |
OMIM:605479 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Cirrhosis, Microcytic anemia, Decreased liver function |
ORPHA:79278 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... |
OMIM:211600 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... |
ORPHA:848 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... |
OMIM:194380 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... |
OMIM:619658 |
Nephronophthisis 19 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation |
OMIM:616217 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... |
OMIM:602347 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hemolytic anemia, Hepatic failure |
OMIM:177000 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... |
ORPHA:53035 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Dubin-Johnson Syndrome |
|
Jaundice, Biliary tract abnormality |
OMIM:237500 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... |
ORPHA:79301 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... |
ORPHA:231222 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Retic... |
OMIM:232800 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami... |
ORPHA:567983 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... |
OMIM:620010 |
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 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Crigler-Najjar Syndrome Type 1 |
|
Hearing impairment, Biliary tract abnormality, Abnormality of the liver, Prolonged neonatal jaundice |
ORPHA:79234 |
Canavan Disease |
|
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation |
ORPHA:141 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Galactosemia Iii |
|
Sensorineural hearing impairment, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:230350 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... |
ORPHA:288 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiom... |
OMIM:603903 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Hypoplasia of the ear cartilage, Mediastinal lymphadenopathy, Mastocy... |
ORPHA:66661 |
Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology |
ORPHA:99852 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... |
OMIM:616278 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... |
ORPHA:3202 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system |
OMIM:271500 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Sandhoff Disease |
|
Hearing impairment, Hepatomegaly, Splenomegaly |
ORPHA:796 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619868 |
Isolated Biliary Atresia |
|
Decreased liver function, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Cholestasis... |
ORPHA:30391 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Combined Saposin Deficiency |
|
Optic atrophy, Hepatomegaly, Splenomegaly |
OMIM:611721 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... |
ORPHA:822 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ... |
OMIM:214900 |
Sialuria |
|
Cholelithiasis, Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Low-set ears |
ORPHA:3166 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly |
OMIM:616719 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c... |
ORPHA:79302 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly |
ORPHA:172 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Splenomegaly, Normocytic anemia, C... |
OMIM:611881 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Optic atrophy, Facial palsy, Thrombocytopenia |
OMIM:615085 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia |
OMIM:613313 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... |
OMIM:613027 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Myotonic Dystrophy 1 |
|
Facial diplegia, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Mirizzi Syndrome |
|
Cholelithiasis, Pancreatitis, Jaundice, Elevated hepatic transaminase, Cholesterol gallstones, Ga... |
ORPHA:521219 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Abnormality of visual evoked potentials, Temporal optic disc... |
ORPHA:1215 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
Ceroid storage disease |
|
Abnormality of the spleen, Hepatic failure |
OMIM:214200 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... |
ORPHA:1414 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... |
ORPHA:209902 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Cholecystitis, Optic disc pal... |
OMIM:615512 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... |
OMIM:616828 |
Disorder Of Bile Acid Synthesis |
|
Elevated hepatic transaminase, Abnormality of the liver, Cholestasis, Biliary tract abnormality |
ORPHA:79168 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... |
OMIM:615710 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... |
OMIM:603552 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Elevated hepatic transaminase |
ORPHA:79095 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatitis,... |
OMIM:613812 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
Martinez-Frias Syndrome |
|
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... |
OMIM:601346 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy |
ORPHA:100024 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Jaundice |
ORPHA:75234 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Abnormal biliary tract morphology, Cholangiocarcinoma, Pancreatitis, Hepatomegaly... |
ORPHA:171 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Cholestasis, Splenomegaly |
OMIM:105200 |
Hurler-Scheie Syndrome |
|
Sensorineural hearing impairment, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnorma... |
ORPHA:93476 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Splenomegaly, Anemia, Hepatosplenomegaly, Reticulocytosis, Optic atrophy, Optic dis... |
OMIM:611490 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormality of visual evoked potentials |
OMIM:617523 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Splenomegaly |
OMIM:613490 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy |
ORPHA:100025 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Retinitis Pigmentosa 89 |
|
Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis, Intrahepatic bile duct dilatation |
OMIM:618955 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Cimdag Syndrome |
|
Sensorineural hearing impairment, Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly |
OMIM:619273 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Cirrhosis, Sclerosing cholangitis, Elevated circulating aspartate aminotransferase ... |
OMIM:619662 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Neuronal loss in central nervous system, Decreased nerve conduction velocity, Cerebral atrophy, A... |
OMIM:256600 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:121300 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Low-... |
OMIM:610333 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... |
ORPHA:90003 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Recurrent tonsillitis |
ORPHA:171876 |
Meckel Syndrome, Type 6 |
|
Hepatic cysts, Absent gallbladder, Hepatic fibrosis, Bile duct proliferation, Cystic liver disease |
OMIM:612284 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation |
ORPHA:96 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Low-frequency sensorineural hearing impairment, Hemophagocytosis, Splenomegaly, Hepatosplenomegal... |
OMIM:613101 |
Ppoma |
|
Cholelithiasis, Abnormal abdomen morphology, Neoplasm of the pancreas, Pituitary adenoma, Hepatom... |
ORPHA:97278 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
Oculocutaneous Albinism Type 1 |
|
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Depigmented fundus, Optic nerve... |
ORPHA:352731 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Metachromatic Leukodystrophy |
|
Abnormal gallbladder morphology, Hemobilia, Decreased nerve conduction velocity, Hearing impairme... |
ORPHA:512 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Cholelithiasis, Thrombocytopenia, Normochromic anemia |
OMIM:618775 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Krabbe Disease |
|
Abnormal flash visual evoked potentials, Decreased nerve conduction velocity, Neurodegeneration, ... |
OMIM:245200 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Hypoparathyroidism, Chronic active hepatitis, Tympanosclerosis, Asplenia |
OMIM:240300 |
Grfoma |
|
Cholelithiasis, Abnormal abdomen morphology, Neoplasm of the pancreas, Pituitary adenoma, Hepatom... |
ORPHA:97261 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, EEG abnormality, Splenomegaly |
OMIM:612126 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Decreased liver function, Abnormal pinna morphology, EEG abnormality, Hepatomegal... |
OMIM:618268 |
Follicular Lymphoma |
|
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Elevated hepatic transaminase, Intrahepatic cholesta... |
OMIM:235555 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice |
OMIM:185000 |
Meckel Syndrome, Type 3 |
|
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate |
OMIM:607361 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr... |
OMIM:607765 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly |
OMIM:608540 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Elevated hepatic transaminase, Hepatic failure |
OMIM:614886 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:612526 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Patchy atrophy of the retinal pigment epithelium, Undetectable visual evoked potentials, Rod-cone... |
ORPHA:436245 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Abnormality of visual evoked potentials |
ORPHA:2971 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Optic disc pallor, Abnormality of central somatosensory evoked potentials, EEG wi... |
OMIM:213700 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Optic atrophy, Optic disc pallor, Abnormality of visual evoked potentials, Decreased motor nerve ... |
OMIM:601152 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Abnormal brainstem MRI signal intensity |
ORPHA:263410 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality |
OMIM:617519 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ... |
OMIM:278000 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Elevate... |
ORPHA:131 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... |
OMIM:615559 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Gómez-López-Hernández Syndrome |
|
Abnormal brainstem morphology |
ORPHA:1532 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... |
OMIM:615513 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Hepatomegaly, Splenomegaly |
OMIM:602390 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... |
OMIM:208540 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... |
ORPHA:98848 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... |
OMIM:618641 |
Distal Trisomy 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Low-set ears, Cryptorchidism, Macrotia |
ORPHA:96097 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly |
OMIM:306000 |
Harderoporphyria |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolonged neonatal jaundice, Reticulocytosis |
OMIM:618892 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Pancytopenia |
OMIM:300635 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Optic disc pallor, Cerebral atrophy, Abnormality of pattern visual evoked potentials, Cerebellar ... |
ORPHA:1947 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
Microgastria-Limb Reduction Defects Association |
|
Splenogonadal fusion, Biliary tract abnormality, Absent gallbladder, Cryptorchidism, Aganglionic ... |
OMIM:156810 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Cholelithiasis, Hepatomegaly, EEG with parietal focal spikes, Hepatosplenomegaly, Cholecystitis, ... |
OMIM:301066 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cholelithiasis, Protruding ear, Decreased testicular size, Macrotia, Cryptorchidism |
OMIM:300534 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:37748 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Elevated hepatic transaminase |
OMIM:613489 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI |
OMIM:616781 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia |
ORPHA:158029 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Spherocytosis, Type 4 |
|
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:612653 |
20Q11.2 Microdeletion Syndrome |
|
Brainstem dysplasia |
ORPHA:444051 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Immunodeficiency 64 |
|
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... |
OMIM:618534 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Immunodeficiency 32B |
|
Splenomegaly |
OMIM:226990 |
Gaucher Disease, Type Iii |
|
Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia |
OMIM:231000 |
Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
Babesiosis |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Thrombocytopenia, Jaun... |
ORPHA:108 |
Elliptocytosis 1 |
|
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly |
OMIM:611804 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... |
OMIM:615122 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:2584 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Depletion of ... |
OMIM:251880 |
Immunodeficiency, Common Variable, 2 |
|
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
OMIM:240500 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Cerebral atrophy, Brain atrophy, Abnormality of visual evoked potentials, Corpus callosum atrophy... |
OMIM:616875 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Absent gallbladder, Aganglionic megacolon, Asplenia |
ORPHA:210122 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormality of visual evoked potentials, Optic atrophy, Caud... |
ORPHA:52368 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Peho Syndrome |
|
Optic atrophy, Undetectable visual evoked potentials, Neuronal loss in central nervous system, Ce... |
OMIM:260565 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... |
OMIM:612714 |
Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Splenomegaly |
ORPHA:664 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Sialidosis Type 2 |
|
Hearing impairment, Ascites, Hepatomegaly, Splenomegaly |
ORPHA:87876 |
Lathosterolosis |
|
Conductive hearing impairment, Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocy... |
OMIM:607330 |
Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Thrombocytopenia, Hemolytic anemia, Splenomegaly |
OMIM:263700 |
Spherocytosis, Type 2 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:616649 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy, Opti... |
ORPHA:485421 |
Griscelli Syndrome Type 2 |
|
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice |
ORPHA:79477 |
Wolman Disease |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Anemia, Bone-marrow foam cells, Ascites |
ORPHA:75233 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... |
OMIM:300853 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy |
OMIM:125310 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Immunodeficiency 54 |
|
Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadenopathy, Reduced natural ... |
OMIM:609981 |
Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Abnormality of visual evoked potentials, Cerebral cortical atrophy |
ORPHA:702 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Sensorineural hearing impairment, Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative di... |
ORPHA:3226 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Hepatic failure, Cirrhosis, Cholecystitis, Microcytic anemia, Portal hypertension |
ORPHA:774 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Elevate... |
ORPHA:507 |
Spinocerebellar Ataxia Type 1 |
|
Abnormal flash visual evoked potentials, Atrophy/Degeneration affecting the brainstem, Optic atro... |
ORPHA:98755 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly |
ORPHA:163596 |
Friedreich Ataxia |
|
Optic atrophy, Decreased amplitude of sensory action potentials, Abnormality of visual evoked pot... |
OMIM:229300 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Optic atrophy, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:79312 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Decreased liver function, Neoplasm of the liver, Hepatomegaly, Splenomegaly, Hepa... |
ORPHA:77293 |
North American Indian Childhood Cirrhosis |
|
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice |
OMIM:604901 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Wilson Disease |
|
Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Thrombocytopenia, ... |
ORPHA:905 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Sensorineural hearing impairment, Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
Caroli Syndrome |
|
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Leukocytosis, Hepatic failure, Cirrhosis, Leukope... |
ORPHA:480520 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatic failure, Fulmin... |
OMIM:308240 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormal amplitude of flash visual evoked potentials, Cerebral atrophy, Retinal degeneration, Abn... |
ORPHA:168491 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Diffuse cerebellar atrophy, Cerebral atrophy, Abnormality of visual evoked potentials, Corpus cal... |
ORPHA:480898 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Polysplenia |
ORPHA:1335 |
Mevalonic Aciduria |
|
Low-set, posteriorly rotated ears, Splenomegaly |
ORPHA:29 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... |
OMIM:601596 |
Gaucher Disease, Type Ii |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:230900 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:608885 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:391 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Optic atrophy, Orthostatic hypotension, Abnormality of visual evoked potentials, Abnormal autonom... |
OMIM:231550 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials, Prolonge... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials, Prolonge... |
ORPHA:529799 |
Meckel Syndrome, Type 7 |
|
Right ventricular hypertrophy, Hepatosplenomegaly, Cholestasis, Portal hypertension, Bile duct pr... |
OMIM:267010 |
Fetal Gaucher Disease |
|
Hepatomegaly, Splenomegaly, Abnormality of the spleen, Low-set, posteriorly rotated ears, Pancyto... |
ORPHA:85212 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransfera... |
OMIM:257200 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Biliary atresia |
ORPHA:565899 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Abnormality of visual evoked potentials |
ORPHA:314389 |
Oculocutaneous Albinism Type 1A |
|
Abnormality of visual evoked potentials, Ocular albinism, Hypoplasia of the fovea, Abnormality of... |
ORPHA:79431 |
8P Inverted Duplication/Deletion Syndrome |
|
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Macrotia |
ORPHA:96092 |
Congenital Rubella Syndrome |
|
Sensorineural hearing impairment, Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Jaundice |
ORPHA:290 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Cerebral cortical atrophy, Retinal coloboma, Abnormality of ... |
ORPHA:2510 |
Joubert Syndrome 4 |
|
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... |
OMIM:609583 |
Infantile Neuroaxonal Dystrophy |
|
Abnormal autonomic nervous system physiology, Abnormality of visual evoked potentials, Optic atro... |
ORPHA:35069 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... |
ORPHA:824 |
Neuraminidase Deficiency |
|
Sensorineural hearing impairment, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Bone-marrow... |
OMIM:256550 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Retinal dystrophy, Optic disc pallor, Undetectable visual evoked potentials, Aplasia/Hypoplasia o... |
ORPHA:423479 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hep... |
OMIM:235200 |
Transaldolase Deficiency |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Anemia, Cirrhosis, ... |
OMIM:606003 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Sensorineural hearing impairment, Cholelithiasis, Splenomegaly, Papilledema, Hepatosplenomegaly, ... |
ORPHA:2072 |
Scheie Syndrome |
|
Sensorineural hearing impairment, Hepatomegaly, Splenomegaly, Abnormal nerve conduction velocity |
ORPHA:93474 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal brainstem morphology |
ORPHA:255182 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Hepatocellular ... |
ORPHA:158057 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials, Cerebral atrophy |
OMIM:609304 |
Cinca Syndrome |
|
Sensorineural hearing impairment, EEG abnormality, Hepatomegaly, Leukocytosis, Splenomegaly, Anem... |
ORPHA:1451 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... |
ORPHA:381 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Schistocytosis, Hemoly... |
OMIM:224120 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Gallbladder Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Chronic noninfectious lymphadenopathy, Cholecystitis, Biliary tract obs... |
ORPHA:100086 |
Congenital Pulmonary Lymphangiectasia |
|
Ascites, Hepatomegaly, Splenomegaly |
ORPHA:2414 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Portal hypertension, Splenomegaly |
OMIM:616589 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, Overfolded helix, B... |
OMIM:619824 |
Trisomy 10P |
|
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Absent gallbladder, Abnormal ... |
ORPHA:171929 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:85414 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B... |
OMIM:301078 |
Joubert Syndrome 40 |
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Molar tooth sign on MRI |
OMIM:619582 |
Farber Lipogranulomatosis |
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Hepatomegaly, Lipogranulomatosis, Splenomegaly |
OMIM:228000 |
Mucopolysaccharidosis, Type Iiib |
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Hearing impairment, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Cerebrotendinous Xanthomatosis |
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Cholelithiasis, Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction ve... |
ORPHA:909 |
Macrophage Activation Syndrome |
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Decreased liver function, Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Elevated cir... |
ORPHA:158061 |
Chronic Myeloid Leukemia |
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Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Cystic Fibrosis |
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Exocrine pancreatic insufficiency, Hepatomegaly, Biliary cirrhosis |
ORPHA:586 |
Steinfeld Syndrome |
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Hearing impairment, Abnormal pinna morphology, Absent gallbladder |
OMIM:184705 |
Lymphoproliferative Syndrome 1 |
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Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... |
OMIM:613011 |
Polycythemia Vera |
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Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Giant cell hepatitis, Hepatomegaly, Hepatic failure, Extramedullary hematopoiesis, Cholestasis, E... |
ORPHA:79303 |
Tangier Disease |
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Facial diplegia, Left ventricular hypertrophy, Hepatomegaly, Splenomegaly |
OMIM:205400 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:314050 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat... |
OMIM:150550 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
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Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:619183 |
Neonatal Lupus Erythematosus |
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Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anemia, Hemolytic anemia, Elev... |
ORPHA:398124 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
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Low-set ears, Abnormal pinna morphology, Absent gallbladder, Pancreatic aplasia |
ORPHA:556955 |
Cystic Echinococcosis |
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Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Eosinophil... |
ORPHA:400 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Hepatomegaly, Hepatic failure, Splenomegaly, Cholestasis, Hepatic fibrosis |
OMIM:615630 |
Complex Regional Pain Syndrome |
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Allodynia |
ORPHA:83452 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Autoimmune Hepatitis |
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Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
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Elongated superior cerebellar peduncle, Abnormal brainstem morphology |
ORPHA:370022 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:603909 |
Mogs-Cdg |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Hydrocele testis, Hepatome... |
ORPHA:79330 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... |
OMIM:602450 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... |
OMIM:300908 |
Gamma-Heavy Chain Disease |
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Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... |
ORPHA:100026 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Cholelithiasis, Low-set ears |
ORPHA:464738 |
Achondroplasia |
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Brain stem compression |
OMIM:100800 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
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Spherocytosis, Splenomegaly |
ORPHA:66518 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity |
ORPHA:309256 |
Coach Syndrome 1 |
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Abnormal abdomen morphology, Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrh... |
OMIM:216360 |
Metachromatic Leukodystrophy, Juvenile Form |
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Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity |
ORPHA:309263 |
Immunodeficiency 47 |
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Sensorineural hearing impairment, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, ... |
OMIM:300972 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
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Abnormality of visual evoked potentials, Decreased nerve conduction velocity |
ORPHA:1933 |
Adult-Onset Still Disease |
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Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Generalized lymphadenopathy, Hepatitis, E... |
ORPHA:829 |
Caspase 8 Deficiency |
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Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
Mpdu1-Cdg |
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Optic atrophy, Undetectable visual evoked potentials |
ORPHA:79323 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Periportal fibrosis, Splenomegaly, Enlarged kidney, Hepatic cysts, Portal hypertens... |
OMIM:263200 |
Erythrocytosis, Familial, 1 |
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Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Cholestasis, Interlobular bile duct... |
ORPHA:562639 |
Cryoglobulinemic Vasculitis |
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Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver |
ORPHA:91138 |
Sézary Syndrome |
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Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:3162 |
Mucopolysaccharidosis, Type Iiia |
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Hearing impairment, Hepatomegaly, Splenomegaly |
OMIM:252900 |
Sarcoidosis, Susceptibility To, 2 |
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Facial palsy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:612387 |
Bohring-Opitz Syndrome |
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Cholelithiasis, Annular pancreas, Low-set, posteriorly rotated ears, Optic atrophy, Cardiomegaly |
ORPHA:97297 |
Trisomy 8P |
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Annular pancreas, Conductive hearing impairment, Morphological abnormality of the middle ear, Apl... |
ORPHA:264450 |
Familial Hemophagocytic Lymphohistiocytosis |
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Sensorineural hearing impairment, Decreased liver function, Cholestatic liver disease, Hepatomega... |
ORPHA:540 |
Biliary Cirrhosis, Primary, 1 |
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Biliary cirrhosis |
OMIM:109720 |
Apolipoprotein C-Ii Deficiency |
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Pancreatitis, Hepatomegaly, Splenomegaly |
OMIM:207750 |
Fanconi Anemia, Complementation Group Q |
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Biliary atresia, Bone marrow hypocellularity, Low-set ears |
OMIM:615272 |
Joubert Syndrome 7 |
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Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem |
OMIM:611560 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Abnormal erythrocyte enzyme leve... |
ORPHA:370 |
Acrocraniofacial Dysostosis |
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Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
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Midline brainstem cleft, Hypoplasia of the pons |
OMIM:617542 |
Gaucher Disease Type 1 |
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Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Thrombocytopenia, Biliary tract obstruction, P... |
ORPHA:77259 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Sensorineural hearing impairment, Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia,... |
OMIM:610199 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Abnormal helix morphology, Hepatomegaly, Cryptorchidism, Splenomegaly, Hepatosplenomegaly, Intrah... |
OMIM:614866 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Warburg Micro Syndrome 2 |
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Optic atrophy, Undetectable visual evoked potentials, Global brain atrophy |
OMIM:614225 |
Autosomal Recessive Polycystic Kidney Disease |
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Cholangiocarcinoma, Hepatoblastoma, Periportal fibrosis, Splenomegaly, Hepatosplenomegaly, Choles... |
ORPHA:731 |
Metachromatic Leukodystrophy, Adult Form |
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Neoplasm of the gallbladder, Decreased nerve conduction velocity, Orthostatic hypotension due to ... |
ORPHA:309271 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Lymphopenia, Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... |
OMIM:616100 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Cholelithiasis, Hepatomegaly, Cryptorchidism, Severe B lymphocytopenia, B lymphocytopenia, Pancre... |
ORPHA:83617 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... |
OMIM:609136 |
American Trypanosomiasis |
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Lymphadenopathy, Hepatomegaly, Aganglionic megacolon, Splenomegaly |
ORPHA:3386 |
Meckel Syndrome, Type 5 |
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Bile duct proliferation |
OMIM:611561 |
22Q11.2 Deletion Syndrome |
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Cholelithiasis, Conductive hearing impairment, Hypoparathyroidism, Cryptorchidism, Splenomegaly, ... |
ORPHA:567 |
Multiple Sulfatase Deficiency |
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Sensorineural hearing impairment, Hepatomegaly, Splenomegaly, Optic atrophy, Abnormality of perip... |
ORPHA:585 |
Septopreoptic Holoprosencephaly |
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Hypoplasia of the pons, Abnormal midbrain morphology |
ORPHA:280195 |
Craniofacioskeletal Syndrome |
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Absent gallbladder, Posteriorly rotated ears, Cryptorchidism, Microtia |
OMIM:300712 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Hepatomegaly, Cryptorchidism, Anemia, Optic atrophy, Elevate... |
ORPHA:90321 |
Omenn Syndrome |
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Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia, L... |
ORPHA:39041 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Hepatomegaly, Enlarged tonsils, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosing cholangiti... |
OMIM:308230 |
Osteopetrosis, Autosomal Recessive 1 |
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Hepatomegaly, Splenomegaly, Anemia, Facial palsy, Facial paralysis, Optic atrophy, Pancytopenia, ... |
OMIM:259700 |
Immunodeficiency 97 With Autoinflammation |
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Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
Fucosidosis |
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Abnormality of the gallbladder, Hearing impairment, Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Hermansky-Pudlak Syndrome 10 |
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EEG abnormality, Hepatomegaly, Neutropenia, Splenomegaly, Macrotia, Low-set ears |
OMIM:617050 |
Polymicrogyria Due To Tubb2B Mutation |
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Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:300573 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Hepatomegaly, Splenomegaly |
OMIM:618541 |
Infantile Krabbe Disease |
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Decreased nerve conduction velocity, Cherry red spot of the macula, Abnormality of visual evoked ... |
ORPHA:206436 |
Gaucher Disease, Type I |
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Hepatomegaly, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:230800 |
Dominant Beta-Thalassemia |
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Hypoparathyroidism, Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis... |
ORPHA:231226 |
Autoimmune Hemolytic Anemia, Warm Type |
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Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Splenomegaly |
ORPHA:90033 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Acute pancre... |
OMIM:618935 |
Aredyld Syndrome |
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Abnormal tragus morphology, Hepatomegaly, Low-set, posteriorly rotated ears, Splenomegaly |
ORPHA:1133 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Cryptorchidism, Microtia, Absent gallbladder, Anemia, Thrombocytopenia, Posteriorly rotated ears |
ORPHA:163979 |
Hardikar Syndrome |
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Decreased liver function, Hepatomegaly, Intrahepatic bile duct cysts, Intrahepatic bile duct dila... |
OMIM:301068 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati... |
OMIM:619418 |
Niemann-Pick Disease, Type C1 |
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Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Fatal liver failure in infancy, Prolonged neo... |
OMIM:257220 |
Beta-Thalassemia Major |
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Hypoparathyroidism, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomeg... |
ORPHA:231214 |
Nodular Non-Suppurative Panniculitis |
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Hepatomegaly, Splenomegaly |
ORPHA:33577 |
Primary Biliary Cholangitis |
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Hepatic failure, Orthostatic hypotension, Cirrhosis, Hepatocellular carcinoma, Hepatitis, Hepatic... |
ORPHA:186 |
Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Chediak-Higashi Syndrome |
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Hepatomegaly, Decreased nerve conduction velocity, Hemophagocytosis, Splenomegaly, Abnormal dense... |
OMIM:214500 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
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Leukocytosis, Splenomegaly |
OMIM:618042 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Microvesicular hepatic steatosis, Hepatomegaly, Micronodular cirrhosis, Hepatic failure, Elevated... |
OMIM:203700 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Hepatomegaly, Splenomegaly, Cirrhosis, Abnormal erythrocyte enzyme level, Cholestasis, Hepatocell... |
ORPHA:264580 |
Symptomatic Form Of Hemochromatosis Type 1 |
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Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular car... |
ORPHA:465508 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
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Abnormal brainstem morphology |
ORPHA:163961 |
Pseudo-Torch Syndrome 1 |
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Decreased liver function, Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Low-set ears... |
OMIM:251290 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Atresia of the external auditory canal, Hearing impairment, Absent gallbladder |
ORPHA:3186 |
Prolidase Deficiency |
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Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Prolon... |
OMIM:170100 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology, Hypoplasi... |
ORPHA:370959 |
Primary Hepatic Neuroendocrine Carcinoma |
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Neoplasm of the liver, Hepatomegaly, Chronic noninfectious lymphadenopathy, Intermittent jaundice... |
ORPHA:100085 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:619260 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Abnormal brainstem morphology |
ORPHA:79279 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Cerebral cortical atrophy, Frontal cortical atrophy, Abnormality of pattern visual evoked potenti... |
ORPHA:2822 |
Sialuria |
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Low-set ears, Hypoplastic nipples, Hepatomegaly, Splenomegaly |
OMIM:269921 |
Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
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Abnormality of visual evoked potentials, Brain atrophy |
OMIM:614457 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
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Hepatomegaly, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
ORPHA:169090 |
D-Bifunctional Protein Deficiency |
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Low-set ears, Hepatomegaly, Decreased nerve conduction velocity, Splenomegaly, Cholestasis, Eleva... |
OMIM:261515 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Digeorge Syndrome |
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Cholelithiasis, Hydrocele testis, Splenomegaly, Anemia, Ovarian cyst, Hypoplasia of the thymus, P... |
OMIM:188400 |
Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:98375 |
Cln5 Disease |
|
Atrophy/Degeneration affecting the central nervous system, Cerebral cortical atrophy, Abnormality... |
ORPHA:228360 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly |
OMIM:618398 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Thrombocytopenia, Neutropenia, Bone m... |
ORPHA:47612 |
Primary Lipodystrophy |
|
Pancreatitis, Splenomegaly, Cirrhosis, Polycystic ovaries, Hepatic steatosis |
ORPHA:90970 |
Triploidy |
|
Hepatomegaly, Low-set, posteriorly rotated ears, Abnormality of the pancreas, Abnormality of the ... |
ORPHA:3376 |
Joubert Syndrome With Hepatic Defect |
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Neoplasm of the liver, Hepatomegaly, Splenomegaly, Intrahepatic biliary atresia, Cirrhosis, Optic... |
ORPHA:1454 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of neutrophils, Liver abscess |
ORPHA:379 |
Mucopolysaccharidosis, Type Iiic |
|
Hearing impairment, Hepatomegaly, Splenomegaly |
OMIM:252930 |
Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Cryptorchidism, Abnormal auditory evoked potentials |
OMIM:193700 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Low-set ears, Abnormal pinna morphology, Absent gallbladder, Microtia |
OMIM:617925 |
Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... |
ORPHA:86843 |
Benign Schwannoma |
|
Allodynia, Vestibular schwannoma, Abnormality of the twelfth cranial nerve, Abnormality of periph... |
ORPHA:252164 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... |
ORPHA:206443 |
Genitopalatocardiac Syndrome |
|
Abnormality of the gallbladder, Low-set ears, Cryptorchidism, Abnormality of mesentery morphology |
ORPHA:2075 |
Immunodeficiency 36 |
|
Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decre... |
OMIM:616005 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Exocrine pancreatic insufficiency, Biliary atresia, Pancreatic hypoplasia, Pancreatic aplasia, Ap... |
ORPHA:2255 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphadenitis, Cholestasis, Elevated hepatic transamina... |
OMIM:615895 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Sensorineural hearing impairment, Decreased liver function, Macrovesicular hepatic steatosis, Opt... |
OMIM:618329 |
Mcleod Syndrome |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Acanth... |
OMIM:300842 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity |
ORPHA:88619 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1389 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Thrombocytopenia, Elevated hepatic transaminase, Anemia,... |
OMIM:617591 |
Cockayne Syndrome A |
|
Sensorineural hearing impairment, Thymic hormone decreased, Abnormal pinna morphology, Hepatomega... |
OMIM:216400 |
Steinert Myotonic Dystrophy |
|
Facial diplegia, Cholelithiasis, Testicular atrophy, Secondary hyperparathyroidism, Decreased res... |
ORPHA:273 |
Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Abnormality of the gallbladder, Biliary tract neoplasm, Anemia, Panc... |
ORPHA:2869 |
Juvenile Idiopathic Arthritis |
|
Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:92 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation |
OMIM:603194 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly |
OMIM:618394 |
Hyperlipoproteinemia, Type I |
|
Hepatosplenomegaly, Pancreatitis, Jaundice, Splenomegaly |
OMIM:238600 |
Reynolds Syndrome |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Jaundice, Biliary cirrhosis |
OMIM:613471 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, E... |
OMIM:603553 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Abnormal brainstem morphology |
ORPHA:370997 |
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 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Hepatomegaly, Hypereosinophilia, Splenomegaly |
OMIM:617388 |
Cockayne Syndrome B |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Hepatomegaly, Decreased nerve conduc... |
OMIM:133540 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI |
OMIM:614615 |
White-Sutton Syndrome |
|
Cerebral atrophy, Rod-cone dystrophy, Optic nerve hypoplasia, Abnormality of visual evoked potent... |
OMIM:616364 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|