Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon |
|
EEG abnormality |
OMIM:130200 |
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups |
|
EEG abnormality |
OMIM:130300 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly |
ORPHA:2274 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Fetal Cytomegalovirus Syndrome |
|
Sensorineural hearing impairment, Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Jaundice |
OMIM:224100 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
Alpha-Thalassemia |
|
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, EEG with photoparoxysmal ... |
OMIM:601068 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Cholelithiasis, Splenomegaly, Ataxia, Impaired neutrophil bactericidal activi... |
OMIM:613470 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Peripapillary atrophy, Macular degene... |
OMIM:618195 |
Stargardt Disease |
|
Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Retinal pigment epithe... |
ORPHA:827 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Optic atrophy, Giant cell hepatitis, Cholelithiasis, Ataxia, Jaundice |
OMIM:214980 |
Benign Recurrent Intrahepatic Cholestasis |
|
Acholic stools, Hepatocellular carcinoma, Pancreatitis, Cholelithiasis, Cholestatic liver disease... |
ORPHA:65682 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis |
OMIM:300752 |
Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
Gallbladder Disease 1 |
|
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... |
OMIM:600803 |
Hyperbiliverdinemia |
|
Decreased liver function, Cholelithiasis, Cholestasis |
OMIM:614156 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... |
OMIM:210500 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology |
ORPHA:438274 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:235700 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice |
OMIM:182900 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice |
OMIM:266200 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:614480 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Beta-Thalassemia |
|
Hepatomegaly, Hepatitis, Abnormal hemoglobin, Cholelithiasis, Anemia, Splenomegaly, Microcytic an... |
ORPHA:848 |
Autosomal Erythropoietic Protoporphyria |
|
Cirrhosis, Decreased liver function, Cholelithiasis, Microcytic anemia |
ORPHA:79278 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Jaundice |
OMIM:605479 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... |
ORPHA:69663 |
Encephalopathy Due To Prosaposin Deficiency |
|
Dystonia, Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... |
OMIM:211600 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:611881 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment |
OMIM:600501 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... |
OMIM:194380 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Triosephosphate Isomerase Deficiency |
|
Dystonia, Optic disc pallor, Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly... |
OMIM:615512 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Hearing impairment, Elevated circulating aspartate aminotransfera... |
OMIM:619658 |
Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Caroli Disease |
|
Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... |
ORPHA:53035 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Cholelithiasis, Hepatic failure |
OMIM:177000 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Ataxia, Hepatic failure, Gait ataxia |
OMIM:616719 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... |
OMIM:602347 |
Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis |
OMIM:616217 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hypoparathyroidism, Leukocytosis, Elevated hepatic iron concentration, Hepatocellul... |
ORPHA:231222 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... |
ORPHA:79301 |
Sandhoff Disease |
|
Hearing impairment, Hepatomegaly, Ataxia, Splenomegaly |
ORPHA:796 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti... |
OMIM:237800 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly |
OMIM:615947 |
Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials |
ORPHA:141 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... |
ORPHA:567983 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Galactosemia Iii |
|
Jaundice, Hepatomegaly, Sensorineural hearing impairment, Splenomegaly |
OMIM:230350 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:618495 |
Sickle Cell Anemia |
|
Abnormality of the spleen, Leukocytosis, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemoly... |
OMIM:232800 |
Dubin-Johnson Syndrome |
|
Biliary tract abnormality, Jaundice |
OMIM:237500 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Hereditary Spherocytosis |
|
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Ataxia, Extramedullary hematopoiesis, Increas... |
ORPHA:822 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Crigler-Najjar Syndrome Type 1 |
|
Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice, Hearing impairment |
ORPHA:79234 |
Optic Atrophy 8 |
|
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Ab... |
OMIM:616648 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... |
OMIM:617394 |
Ravine Syndrome |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Hereditary Elliptocytosis |
|
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Elliptocytosis, Poikil... |
ORPHA:288 |
Sickle Cell Anemia |
|
Hepatomegaly, Leukocytosis, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli... |
OMIM:603903 |
Sialuria |
|
Hepatomegaly, Cholelithiasis, Hepatosplenomegaly, Elevated hepatic transaminase, Attention defici... |
ORPHA:3166 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Megaloblastic anemia, Cholelithiasis |
ORPHA:309108 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hypoplasia of the ear cartilage, Sple... |
ORPHA:66661 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... |
ORPHA:30391 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... |
OMIM:616278 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis |
OMIM:271500 |
Combined Saposin Deficiency |
|
Hepatomegaly, Optic atrophy, Splenomegaly |
OMIM:611721 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease, Ataxia, Elevated hepatic transam... |
ORPHA:79095 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... |
OMIM:214900 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Metachromatic Leukodystrophy |
|
Gait disturbance, Dystonia, Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morpholo... |
ORPHA:512 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Absent brains... |
ORPHA:1215 |
Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly |
ORPHA:172 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... |
OMIM:613673 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Ataxia, Splenomegaly |
ORPHA:98293 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Hepatomegaly, Dystonia, Cholelithiasis, Sensorineural hearing i... |
OMIM:619273 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase |
OMIM:613313 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Facial diplegia, Cholelithiasis |
OMIM:160900 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:79302 |
Mirizzi Syndrome |
|
Gallbladder perforation, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Abnormality of the... |
ORPHA:521219 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Hepatomegaly, Anemia, Facial palsy, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... |
ORPHA:320401 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas |
ORPHA:3032 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Cholestatic liver disease, ... |
OMIM:616828 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... |
OMIM:616860 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... |
OMIM:613027 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl... |
ORPHA:1414 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly |
OMIM:607616 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... |
OMIM:603552 |
Gaucher Disease Type 2 |
|
Dystonia, Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Cholesterol gallstones, Hep... |
ORPHA:209902 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Absent gallbladder, Biliary atresia, Cho... |
OMIM:615710 |
Cerebrotendinous Xanthomatosis |
|
Abnormality of central somatosensory evoked potentials, Optic disc pallor, Cholelithiasis, EEG wi... |
OMIM:213700 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... |
OMIM:615631 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, Hepatocellular c... |
ORPHA:171 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency |
ORPHA:100025 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Dystonia, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transami... |
OMIM:610333 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Cholestasis, Splenomegaly |
OMIM:105200 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Ataxia, Progressive sensori... |
OMIM:125250 |
Disorder Of Bile Acid Synthesis |
|
Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Abnormality of the liver |
ORPHA:79168 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:100024 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormality of visual evoked potentials |
OMIM:617523 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Cerebellar atrophy, Abnormality of visual evoked potentials, Neurodegeneration, Ne... |
OMIM:256600 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Hepatic failure, Elevated hepat... |
OMIM:613812 |
Ataxia-Pancytopenia Syndrome |
|
Gait disturbance, Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macro... |
ORPHA:2585 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Sensorineural hearing impairment, Abnorma... |
ORPHA:93476 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Jaundice |
ORPHA:75234 |
Martinez-Frias Syndrome |
|
Extrahepatic biliary duct atresia, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Annular ... |
OMIM:601346 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Hepatomegaly, Lethargy, Splenomegaly |
OMIM:602390 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Optic atrophy, Optic disc pallor, Anemia, Facial palsy, Splenomegaly, Hepatosplenom... |
OMIM:611490 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic active hepatitis, Hypoparathyroidism, Asplenia, Cholelithiasis, Tympanosclerosis, Prematu... |
OMIM:240300 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
Krabbe Disease |
|
Optic atrophy, Abnormal flash visual evoked potentials, Neurodegeneration, Decreased nerve conduc... |
OMIM:245200 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Dystonia, Abnormality of somatosensory evoked potentials, Oromandibular dystonia, ... |
ORPHA:52368 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Protruding ear, Macrotia, Cholelithiasis, Shuffling gait, Hyperactivity, Cryptorchidism, Decrease... |
OMIM:300534 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality |
OMIM:617519 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated circulating aspartat... |
OMIM:619662 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials |
ORPHA:96 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... |
OMIM:619463 |
Coproporphyria, Hereditary |
|
Jaundice, Hepatomegaly, Splenomegaly |
OMIM:121300 |
Oculocutaneous Albinism Type 1 |
|
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Abnormal morphology of the chor... |
ORPHA:352731 |
Retinitis Pigmentosa 89 |
|
Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis, Hepatic fibrosis |
OMIM:618955 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Recurrent tonsillitis |
ORPHA:171876 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Cholelithiasis, Hepatic failure |
OMIM:614886 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Optic atrophy, Dystonia, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocy... |
ORPHA:79312 |
Ppoma |
|
Hepatomegaly, Ascites, Neoplasm of the pancreas, Cholelithiasis, Increased circulating gonadotrop... |
ORPHA:97278 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Anemia, Splenomegaly, Low-frequency sensorineural hearing impairment, Hepatosple... |
OMIM:613101 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... |
ORPHA:90003 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Splenomegaly, Ataxia, Inability to walk, Hemolytic anemia, Jaundice |
OMIM:608885 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Splenomegaly, Ataxia, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials |
OMIM:125310 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Ataxia, Hepatic failure, Elevated hepatic transaminase |
OMIM:613489 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Heari... |
OMIM:601455 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Attention deficit hyperactivity disorder, Biliary atresia |
ORPHA:565899 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... |
ORPHA:436245 |
Grfoma |
|
Hepatomegaly, Pheochromocytoma, Ascites, Neoplasm of the thymus, Neoplasm of the pancreas, Cholel... |
ORPHA:97261 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Abnormality of visual evoked potentials |
ORPHA:2971 |
Aicardi-Goutieres Syndrome 7 |
|
Dystonia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:615846 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Hypoplastic nipples, Abnormality of the pinna, Cholelithiasis, Splenomegaly, Decrea... |
OMIM:618268 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Abnormal brainstem MRI signal intensity |
ORPHA:263410 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Normochromic anemia, Papilledema, Cholelithiasis |
OMIM:618775 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... |
OMIM:224120 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Abnormality of visua... |
OMIM:601152 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly |
OMIM:608540 |
Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly |
ORPHA:545 |
Gómez-López-Hernández Syndrome |
|
Abnormal brainstem morphology |
ORPHA:1532 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:612526 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Sialidosis Type 2 |
|
Hepatomegaly, Ascites, Hearing impairment, Splenomegaly, Ataxia |
ORPHA:87876 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Hepatic failure, Ele... |
OMIM:607765 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... |
OMIM:278000 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Splenomegaly, Ataxia, Decreased testicular size, Lethargy |
OMIM:201100 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
Mevalonic Aciduria |
|
Ataxia, Low-set, posteriorly rotated ears, Splenomegaly |
ORPHA:29 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic cholesta... |
OMIM:235555 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:185000 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... |
OMIM:601596 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... |
ORPHA:766 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Cholelithiasis, Neoplasm of the liver, Splenomegaly, Cirrhosis, Decreased liver fun... |
ORPHA:77293 |
Meckel Syndrome, Type 3 |
|
Bile duct proliferation, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis |
OMIM:607361 |
Immunodeficiency 52 |
|
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... |
OMIM:617514 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... |
OMIM:612840 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyperplasia of liver,... |
ORPHA:64743 |
Dubin-Johnson Syndrome |
|
Abnormality of the liver, Hepatomegaly, Biliary tract abnormality, Jaundice |
ORPHA:234 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecystitis... |
ORPHA:131 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly |
OMIM:618107 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... |
ORPHA:98848 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Spherocytosis, Type 5 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612690 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis |
OMIM:300635 |
Mucopolysaccharidosis, Type Iiia |
|
Hearing impairment, Hepatomegaly, Hyperactivity, Splenomegaly |
OMIM:252900 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI |
OMIM:616781 |
Harderoporphyria |
|
Hepatomegaly, Splenomegaly, Reticulocytosis, Prolonged neonatal jaundice, Hemolytic anemia |
OMIM:618892 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, EEG with occipital focal spikes, EEG with central focal spikes, Cholelithiasis, Pos... |
OMIM:301066 |
Distal Trisomy 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Macrotia, Cryptorchidism |
ORPHA:96097 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:37748 |
Microgastria-Limb Reduction Defects Association |
|
Aganglionic megacolon, Asplenia, Splenogonadal fusion, Absent gallbladder, Cryptorchidism, Biliar... |
OMIM:156810 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Ataxia |
ORPHA:391 |
Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Splenomegaly |
OMIM:602271 |
Wilson Disease |
|
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acu... |
ORPHA:905 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepat... |
OMIM:618641 |
20Q11.2 Microdeletion Syndrome |
|
Brainstem dysplasia |
ORPHA:444051 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:2584 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Optic atrophy, Cerebellar atrophy, Abnormality of visual evoked potentials, Corpus callosum atrop... |
OMIM:616875 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... |
OMIM:618534 |
Babesiosis |
|
Hepatomegaly, Leukopenia, Splenomegaly, Hepatic failure, Thrombocytopenia, Hemolytic anemia, Jaun... |
ORPHA:108 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Hep... |
OMIM:308240 |
8P Inverted Duplication/Deletion Syndrome |
|
Attention deficit hyperactivity disorder, Aplasia/Hypoplasia of the gallbladder, Macrotia, Crypto... |
ORPHA:96092 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... |
OMIM:615122 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Hearing impairment, Splenomegaly, Hyperactivity |
OMIM:252920 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Cerebellar atrophy, Optic disc pallor, Abnormality of visual evoked potentials, De... |
ORPHA:485421 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod... |
OMIM:251880 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Asplenia, Annular pancreas |
ORPHA:210122 |
Cold Agglutinin Disease |
|
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly |
ORPHA:56425 |
Peho Syndrome |
|
Undetectable visual evoked potentials, Optic atrophy, Neuronal loss in central nervous system, Ce... |
OMIM:260565 |
Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Abnormality of visual evoked potentials, Cerebral cortical atrophy |
ORPHA:702 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly |
OMIM:240500 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Optic neuropathy, Optic disc pallor, Abnormal auditory evoked potentials, Abnormal... |
ORPHA:909 |
Spherocytosis, Type 4 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
Lathosterolosis |
|
Conductive hearing impairment, Anisopoikilocytosis, Increased mean platelet volume, Schistocytosi... |
OMIM:607330 |
Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
Neuraminidase Deficiency |
|
Hepatomegaly, Ascites, Dysmetria, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomegaly, S... |
OMIM:256550 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice |
ORPHA:79477 |
Immunodeficiency 32B |
|
Splenomegaly |
OMIM:226990 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hepatic fibrosis, Anemia, Cholelithiasis, Splenomegaly, Sensorineural ... |
ORPHA:2072 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Lymphopenia, Splenomegaly |
OMIM:605309 |
Porphyria, Congenital Erythropoietic |
|
Thrombocytopenia, Hemolytic anemia, Cholelithiasis, Splenomegaly |
OMIM:263700 |
Immunodeficiency 27A |
|
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... |
OMIM:209950 |
Spinocerebellar Ataxia Type 1 |
|
Optic atrophy, Cerebellar atrophy, Abnormality of somatosensory evoked potentials, Abnormal flash... |
ORPHA:98755 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Griscelli Syndrome |
|
Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splen... |
ORPHA:381 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... |
OMIM:300853 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... |
ORPHA:3226 |
Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly |
OMIM:611804 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia, Splenomegaly, Anemia of inadequate production, Exocrine pancreatic insuffic... |
OMIM:612714 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophag... |
ORPHA:507 |
Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Cirrhosis, Microcytic anemia, Hepatic failure, Cholecystitis, Portal hypertension |
ORPHA:774 |
Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Splenomegaly |
ORPHA:664 |
Immunodeficiency 54 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Reduced natural killer cell count, Adrenocorticotrop... |
OMIM:609981 |
Wolman Disease |
|
Hepatomegaly, Ascites, Anemia, Bone-marrow foam cells, Splenomegaly, Hepatic failure |
ORPHA:75233 |
Niemann-Pick Disease, Type A |
|
Athetosis, Hepatomegaly, Ascites, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Elevated... |
OMIM:257200 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice |
OMIM:616649 |
Friedreich Ataxia |
|
Decreased sensory nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrop... |
OMIM:229300 |
Niemann-Pick Disease, Type C1 |
|
Fetal ascites, Hepatomegaly, Dystonia, Fatal liver failure in infancy, Bone-marrow foam cells, Sp... |
OMIM:257220 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Optic atrophy, Abnormality of visual evoked potentials, Diffuse cerebellar atrophy, Corpus callos... |
ORPHA:480898 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Retinal degeneration, Abnormality of visual evoked potentials, Corpus callosu... |
ORPHA:168491 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Late-Infantile/Juvenile Krabbe Disease |
|
Gait disturbance, Loss of ambulation, Decreased nerve conduction velocity, Ataxia, Prolonged brai... |
ORPHA:206443 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Optic atrophy, Abnormality of visual evoked potentials, Abnormal autonom... |
OMIM:231550 |
Omenn Syndrome |
|
Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... |
OMIM:603554 |
Coach Syndrome 1 |
|
Hepatomegaly, Dystonia, Optic disc pallor, Hepatic fibrosis, Splenomegaly, Cirrhosis, Ataxia, Int... |
OMIM:216360 |
Caroli Syndrome |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarc... |
ORPHA:480520 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Sensorineural hearing impairment, Splenomegaly |
OMIM:611762 |
Pentalogy Of Cantrell |
|
Polysplenia, Absent gallbladder |
ORPHA:1335 |
Joubert Syndrome 4 |
|
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... |
OMIM:609583 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Ascites, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly |
OMIM:269920 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Abnormality of visual evoked potentials |
ORPHA:314389 |
Oculocutaneous Albinism Type 1A |
|
Abnormality of the optic nerve, Abnormality of visual evoked potentials, Hypoplasia of the fovea,... |
ORPHA:79431 |
Free Sialic Acid Storage Disease |
|
Athetosis, Hepatomegaly, Gait disturbance, Ascites, Splenomegaly, Ataxia |
ORPHA:834 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:230900 |
Micro Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Reti... |
ORPHA:2510 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly, Sensorineural hearing impairment, Thrombocytopenia, Jaundice |
ORPHA:290 |
Mogs-Cdg |
|
Hepatomegaly, Optic atrophy, Dystonia, Cardiomegaly, Absent brainstem auditory responses, Left ve... |
ORPHA:79330 |
Typhoid |
|
Lethargy, Hepatomegaly, Ataxia, Splenomegaly |
ORPHA:99745 |
Chronic Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural... |
ORPHA:529799 |
Metachromatic Leukodystrophy, Adult Form |
|
Optic atrophy, Dystonia, Neoplasm of the gallbladder, Orthostatic hypotension due to autonomic dy... |
ORPHA:309271 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Aplasia/Hypoplasia of the optic nerve, Macular coloboma, Un... |
ORPHA:423479 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal brainstem morphology |
ORPHA:255182 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Hepatomegaly, Optic atrophy, Splenomegaly, Ataxia, EEG abnormality, Elevated hepatic transaminase |
OMIM:608799 |
Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Cerebellar atrophy, Abnormality of visual evoked potentials, Abnormality of periph... |
ORPHA:35069 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
Fetal Gaucher Disease |
|
Abnormality of the spleen, Hepatomegaly, Low-set, posteriorly rotated ears, Splenomegaly, Pancyto... |
ORPHA:85212 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Pancytopenia, Hepatocellular carcinoma, Anemia, Spleno... |
ORPHA:158057 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Right ventricular hypertrophy, Bile duct proliferation, Hepatosplenomegaly, Cho... |
OMIM:267010 |
Fanconi Anemia, Complementation Group Q |
|
Biliary atresia, Bone marrow hypocellularity |
OMIM:615272 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Hepatocellular carcinoma, Ascites, Cardiomegaly, Splenomegaly, ... |
OMIM:235200 |
Cinca Syndrome |
|
Hepatomegaly, Leukocytosis, Lymphadenopathy, Anemia, Pseudopapilledema, Abnormal granulocyte morp... |
ORPHA:1451 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials, Cerebral atrophy |
OMIM:609304 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
White-Sutton Syndrome |
|
Optic atrophy, Abnormality of visual evoked potentials, Rod-cone dystrophy, Cerebral atrophy |
OMIM:616364 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inability to walk, Difficulty walking, Cholelithiasis |
ORPHA:464738 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Decreased liver func... |
ORPHA:158061 |
North American Indian Childhood Cirrhosis |
|
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension |
OMIM:604901 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Neutropenia, Thrombocytopenia, Hepatitis, Absence of lymph node germinal center, Sp... |
OMIM:308230 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Transaldolase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Splenomegaly, Cirrhosis, Decrease... |
OMIM:606003 |
Myopathy With Extrapyramidal Signs |
|
Hepatomegaly, Leukocytosis, Optic atrophy, Dystonia, Splenomegaly, Hyperactivity, Ataxia, Elevate... |
OMIM:615673 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:85414 |
Scheie Syndrome |
|
Sensorineural hearing impairment, Hepatomegaly, Abnormal nerve conduction velocity, Splenomegaly |
ORPHA:93474 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Lipogranulomatosis, Splenomegaly |
OMIM:228000 |
Steinfeld Syndrome |
|
Hearing impairment, Abnormality of the pinna, Absent gallbladder |
OMIM:184705 |
Mucopolysaccharidosis, Type Iiic |
|
Hearing impairment, Hepatomegaly, Hyperactivity, Splenomegaly |
OMIM:252930 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Optic atrophy, Abnormality of peripheral nerve conduction, Gait disturbance, Anemia... |
ORPHA:90321 |
Trisomy 10P |
|
Low voltage EEG, Abnormal auditory evoked potentials, Macrotia, Posteriorly rotated ears, Absent ... |
ORPHA:171929 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Ataxia, Hepatic fibrosis |
OMIM:610688 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Abnormal brainstem morphology, Elongated superior cerebellar peduncle |
ORPHA:370022 |
Gallbladder Neuroendocrine Tumor |
|
Ascites, Biliary tract obstruction, Biliary tract neoplasm, Chronic noninfectious lymphadenopathy... |
ORPHA:100086 |
Achondroplasia |
|
Brain stem compression |
OMIM:100800 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Stomatocytosis, Acanthocytosis, Splenomegaly, Elliptocytosis, Reticulocytosis, ... |
OMIM:109270 |
Bohring-Opitz Syndrome |
|
Optic atrophy, Annular pancreas, Low-set, posteriorly rotated ears, Cardiomegaly, Cholelithiasis,... |
ORPHA:97297 |
Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
Joubert Syndrome 7 |
|
Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia |
OMIM:611560 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Dec... |
OMIM:613011 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
Neonatal Lupus Erythematosus |
|
Hepatomegaly, Neutropenia, Pancytopenia, Anemia, Splenomegaly, Abnormality of the liver, Aplastic... |
ORPHA:398124 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Ascites, Splenomegaly |
ORPHA:2414 |
Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Acute hepatitis, Splenomegaly, Diffuse he... |
ORPHA:2137 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic failure |
OMIM:615630 |
Tangier Disease |
|
Left ventricular hypertrophy, Hepatomegaly, Facial diplegia, Splenomegaly |
OMIM:205400 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Dystonia, Neutropenia, Macrotia, Splenomegaly, EEG abnormality |
OMIM:617050 |
Cystic Echinococcosis |
|
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Abnorma... |
ORPHA:400 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Meckel Syndrome, Type 6 |
|
Bile duct proliferation, Cystic liver disease, Hepatic fibrosis |
OMIM:612284 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly |
OMIM:314050 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Sensorineural hearing impairment, Macrocytic anemia, Ataxia, Splenomegaly |
OMIM:619046 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, Optic disc pallor, Abnormality of pattern visual evoked potentials, Cerebral ... |
ORPHA:1947 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Ascites, Splenomegaly |
ORPHA:1046 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Gait disturbance, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules... |
OMIM:214500 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Splenomegaly, Intermitte... |
OMIM:150550 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity |
ORPHA:309256 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... |
ORPHA:79303 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity |
ORPHA:309263 |
Polymicrogyria Due To Tubb2B Mutation |
|
Abnormal brainstem morphology, Hypoplasia of the pons |
ORPHA:300573 |
Mpdu1-Cdg |
|
Undetectable visual evoked potentials, Optic atrophy |
ORPHA:79323 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Abnormality of visual evoked potentials, Decreased nerve conduction velocity |
ORPHA:1933 |
Adult-Onset Still Disease |
|
Hepatomegaly, Leukocytosis, Hepatitis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia, G... |
ORPHA:829 |
Niemann-Pick Disease, Type C2 |
|
Fetal ascites, Hepatomegaly, Dystonia, Bone-marrow foam cells, Splenomegaly, Ataxia, Prolonged ne... |
OMIM:607625 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Gait disturbance, Dystonia, Polycythemia, Micronodular cirrhosis, Bradykinesia, Spl... |
ORPHA:309854 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:619183 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Mucopolysaccharidosis, Type Iiid |
|
Hearing impairment, Hepatomegaly, Hyperactivity, Splenomegaly |
OMIM:252940 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Cardiomegaly, Spl... |
ORPHA:465508 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... |
ORPHA:100026 |
Immunodeficiency 47 |
|
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Elevated hepatic transaminase, Thr... |
OMIM:300972 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the liver, Viral hepatitis |
ORPHA:91138 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Warburg Micro Syndrome 2 |
|
Undetectable visual evoked potentials, Global brain atrophy, Optic atrophy |
OMIM:614225 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Midline brainstem cleft |
OMIM:617542 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... |
OMIM:210250 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune... |
OMIM:616100 |
Trisomy 8P |
|
Conductive hearing impairment, Morphological abnormality of the middle ear, Aplasia/Hypoplasia of... |
ORPHA:264450 |
Sialidosis Type 1 |
|
Gait disturbance, Decreased nerve conduction velocity, Splenomegaly, Sensorineural hearing impair... |
ORPHA:812 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Polycystic ovaries, He... |
ORPHA:370 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Splenomegaly, Portal hypertension, Periportal fibr... |
OMIM:263200 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Choles... |
ORPHA:562639 |
Adult Krabbe Disease |
|
Gait disturbance, Ataxia, EEG abnormality, Broad-based gait, Prolonged brainstem auditory evoked ... |
ORPHA:206448 |
Caspase 8 Deficiency |
|
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Pancreatic aplasia, Abnormality of the pinna, Absent gallbladder |
ORPHA:556955 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Optic atrophy, Optic disc pallor, Ascites, Anemia, Decreased osteoclast count, Sple... |
OMIM:259720 |
Sialuria |
|
Hepatomegaly, Attention deficit hyperactivity disorder, Hypoplastic nipples, Splenomegaly |
OMIM:269921 |
Sézary Syndrome |
|
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:3162 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Gait disturbance, Intrahepatic biliary atresia, Congenital hepatic fibrosis, Neopla... |
ORPHA:1454 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Decreased liver function, Elevated hepatic transaminase, Thrombocytop... |
OMIM:251290 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Ascites, Leukopenia, Biliary tract obstruction, Anemia, Splenomegaly, Cirrhosis, Hy... |
ORPHA:77259 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Decreased liver function, Chole... |
ORPHA:540 |
Sarcoidosis, Susceptibility To, 2 |
|
Facial palsy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
OMIM:612387 |
Cockayne Syndrome A |
|
Hepatomegaly, Optic atrophy, Abnormal auditory evoked potentials, Thymic hormone decreased, Gait ... |
OMIM:216400 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... |
OMIM:300908 |
22Q11.2 Deletion Syndrome |
|
Conductive hearing impairment, Hypoparathyroidism, Aganglionic megacolon, Optic atrophy, Hypoplas... |
ORPHA:567 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Bile duct proliferation, Micronodular cirrhosis, ... |
OMIM:203700 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Intrahepatic biliary dysgenesis, Splenomegaly, Hepatosplenomegaly, Cryptorchidism, ... |
OMIM:614866 |
Charcot-Marie-Tooth Disease Type 1F |
|
Steppage gait, Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve condu... |
ORPHA:101085 |
Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Hypoplasia of the pons |
ORPHA:280195 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly |
OMIM:614699 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation |
OMIM:611561 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Gait disturbance, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potent... |
ORPHA:99027 |
American Trypanosomiasis |
|
Lymphadenopathy, Hepatomegaly, Aganglionic megacolon, Splenomegaly |
ORPHA:3386 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... |
OMIM:610199 |
Craniofacioskeletal Syndrome |
|
Cryptorchidism, Microtia, Posteriorly rotated ears, Absent gallbladder |
OMIM:300712 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Optic atrophy, Anemia, Facial palsy, Splenomegaly, Hearing impairment, Facial paral... |
OMIM:259700 |
Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Hepatic fibrosis, Pan... |
ORPHA:731 |
Omenn Syndrome |
|
Hepatomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly... |
ORPHA:39041 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Hepatic fibrosis, Hepatocellular carcinoma, Hypochromic microcytic anemia, Sp... |
ORPHA:231226 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Optic atrophy, Splenomegaly, Sensorineural hearing impairment, Abnormality of perip... |
ORPHA:585 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, B lymphocytopenia, Pancreatic hypoplasia, Cholelithiasis, Biliary hyperplasia, Seve... |
ORPHA:83617 |
Senior-Boichis Syndrome |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Ascites, Congenital hepatic fibrosis,... |
ORPHA:84081 |
Gaucher Disease, Type I |
|
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia |
OMIM:230800 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Optic atrophy, Pancytopenia, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic... |
OMIM:614576 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
Biotinidase Deficiency |
|
Hepatomegaly, Optic atrophy, Splenomegaly, Sensorineural hearing impairment, Ataxia, Lethargy |
OMIM:253260 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hypoparathyroidism, Anisopoikilocytosis, Hepatic fibrosis, Hepatocellular carcinoma... |
ORPHA:231214 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Splenomegal... |
OMIM:612541 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Anemia, Posteriorly rotated ears, Absent gallbladder, Microtia, Thrombocytopenia, Cryptorchidism |
ORPHA:163979 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials, Ataxia |
OMIM:619260 |
Aredyld Syndrome |
|
Abnormal tragus morphology, Hepatomegaly, Low-set, posteriorly rotated ears, Splenomegaly |
ORPHA:1133 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy, Abnormality of visual evoked poten... |
ORPHA:206436 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Optic atrophy, Anemia, Splenomegaly, Progressive sensorineural hearing impairment |
ORPHA:575 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Polycystic ovaries, Hepatocellular adenoma, Anem... |
ORPHA:264580 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Jaundice, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90033 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Impaired oxidative burst, Acute... |
OMIM:618935 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Abnormal brainstem morphology |
ORPHA:79279 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Gait disturbance, Fatigable weakness of bulbar muscles, Facial diplegia, Seco... |
ORPHA:273 |
Fucosidosis |
|
Cardiomegaly, Hepatomegaly, Abnormality of the gallbladder, Hearing impairment |
ORPHA:349 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Abnormal brainstem morphology |
ORPHA:163961 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Ataxia, Hepatosple... |
OMIM:603553 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Hearing impairment, Atresia of the external auditory canal, Absent gallbladder |
ORPHA:3186 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Retinal degeneration, Orthostatic hypotension, Atrophy of the spinal cord, Frontal cortical atrop... |
ORPHA:2822 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Profound hearing impairment, Microvesicular hepatic steatosis, Hepatomegaly, Macronodular cirrhos... |
OMIM:619418 |
Prolidase Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Elevated circulating aspartate aminotransferase concentration... |
OMIM:170100 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Sensorineural hearing impairment, Ataxia |
ORPHA:36412 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Abnormal brainstem morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Olivopontocer... |
ORPHA:370959 |
Primary Biliary Cholangitis |
|
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Ascites, O... |
ORPHA:186 |
Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Splenomegaly |
OMIM:602557 |
Cln5 Disease |
|
Cerebellar atrophy, Abnormality of visual evoked potentials, Atrophy/Degeneration affecting the c... |
ORPHA:228360 |
Felty Syndrome |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellu... |
ORPHA:47612 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Ascites, Biliary tract obstruction, Hepatic cysts, Neoplasm of the liver, Intrahepa... |
ORPHA:100085 |
Cockayne Syndrome B |
|
Hepatomegaly, Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decre... |
OMIM:133540 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly |
ORPHA:33577 |
Arthrogryposis, Distal, Type 2A |
|
Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Thrombocytopenia, Hemolytic anemia |
ORPHA:169090 |
Digeorge Syndrome |
|
Parathyroid agenesis, Cholelithiasis, Parathyroid hypoplasia, Abnormality of the thymus, Attentio... |
OMIM:188400 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Ataxia, Thrombocytopenia, Hemoph... |
OMIM:267700 |
Triploidy |
|
Hepatomegaly, Abnormality of the gallbladder, Low-set, posteriorly rotated ears, Abnormality of t... |
ORPHA:3376 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Liver abscess |
ORPHA:379 |
Hardikar Syndrome |
|
Cholangitis, Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Intrahepatic bile duc... |
OMIM:301068 |
Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Benign Schwannoma |
|
Abnormal cranial nerve morphology, Vestibular Schwannoma, Facial palsy, Abnormality of peripheral... |
ORPHA:252164 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Splenomegaly |
OMIM:607015 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation |
OMIM:603194 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly |
OMIM:616005 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:609136 |
D-Bifunctional Protein Deficiency |
|
Fetal ascites, Hepatomegaly, Bile duct proliferation, Decreased nerve conduction velocity, Spleno... |
OMIM:261515 |
Primary Lipodystrophy |
|
Polycystic ovaries, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis |
ORPHA:90970 |
Multiple Sulfatase Deficiency |
|
Hearing impairment, Hepatomegaly, Ataxia, Splenomegaly |
OMIM:272200 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microtia, Abnormality of the pinna, Absent gallbladder |
OMIM:617925 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Goiter, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Hyperac... |
ORPHA:525731 |
Legionnaires Disease |
|
Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Pancreatitis, Splenomegaly, Ataxia, Lymp... |
ORPHA:549 |
Poikiloderma With Neutropenia |
|
Neutropenia, Splenomegaly |
OMIM:604173 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity |
ORPHA:88619 |
Aicardi-Goutieres Syndrome 1 |