| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:620010 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia |
OMIM:618660 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ... |
OMIM:232700 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Conjunctival icterus, Jaundice, Intermittent jaundice, Hyperbiliru... |
ORPHA:3111 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:79235 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality |
OMIM:237500 |
| Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... |
ORPHA:79234 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increas... |
OMIM:616860 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... |
OMIM:605814 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
| Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun... |
OMIM:619256 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, In... |
OMIM:603553 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:308600 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237550 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Jaundice, Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Crigler-Najjar Syndrome, Type Ii |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Radioulnar synostosis |
ORPHA:71289 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237450 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Hepatomegaly, Corneal opacity |
ORPHA:2432 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
| Glutathione Peroxidase Deficiency |
|
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia |
OMIM:614164 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... |
OMIM:231095 |
| Crigler-Najjar Syndrome, Type I |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
| Edinburgh Malformation Syndrome |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:129850 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Corneal opacity, Splenomegaly, Lymphadenop... |
ORPHA:79292 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Hy... |
OMIM:235555 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
| Galactosemia Iv |
|
Cataract, Hypergalactosemia, Prolonged neonatal jaundice |
OMIM:618881 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
| Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Increased total bilirubin |
ORPHA:890 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating crea... |
ORPHA:26793 |
| Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... |
ORPHA:158057 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... |
OMIM:616834 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia |
OMIM:144300 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin |
ORPHA:2924 |
| Malaria |
|
Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:613812 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
| Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
| Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Jaundice, Cataract, Hypoproteinemia |
OMIM:608093 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Forsythe-Wakeling Syndrome |
|
Osteoporosis, Thrombocytopenia |
OMIM:613606 |
| Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Hypomagne... |
ORPHA:398063 |
| Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
| Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Sp... |
OMIM:618892 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Polycystic liver disease, Increased total bilirubin |
OMIM:174050 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
| Dengue Fever |
|
Hepatomegaly, Leukopenia, Ascites, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... |
OMIM:241600 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi... |
OMIM:226300 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology, Ascites, Reduced... |
ORPHA:90362 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... |
OMIM:251880 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosp... |
OMIM:612526 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu... |
OMIM:614300 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent... |
OMIM:601847 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... |
OMIM:269920 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph... |
OMIM:235255 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Corneal opacity, Chronic noninfectious lymphaden... |
ORPHA:31150 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:617049 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
| Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
OMIM:603552 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Galactokinase Deficiency |
|
Hepatomegaly, Cataract, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased level of ga... |
ORPHA:79237 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis |
OMIM:605479 |
| Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Dextrocardia, Abnormality of the pancreas, Abnormal cardiac septum morphology,... |
ORPHA:2315 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lym... |
ORPHA:1655 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
| Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Iris hypopigmentati... |
ORPHA:167 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Atrial septal defect, Hype... |
OMIM:620211 |
| Dubin-Johnson Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ... |
ORPHA:234 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Cataract, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferr... |
OMIM:606069 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Thrombocytope... |
OMIM:611490 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... |
OMIM:615703 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom... |
ORPHA:210110 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
| Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ... |
OMIM:232400 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Hijazi-Reis Syndrome |
|
Astigmatism, Iris coloboma, Hyperbilirubinemia |
OMIM:301094 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Cataract, Corneal opacity, Ventricular septal defect, Thrombocytopenia, Splenomegal... |
ORPHA:290 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... |
ORPHA:446 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... |
ORPHA:567983 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Abnormal heart valve morphology, Splen... |
ORPHA:93476 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... |
OMIM:211600 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... |
ORPHA:1067 |
| Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... |
OMIM:271500 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia, Developmental cataract |
OMIM:618810 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Elevated c... |
OMIM:615160 |
| Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Neonatal insuli... |
ORPHA:1667 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia, Exocrine pancreatic insufficiency |
OMIM:260450 |
| Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Cholestasis, Decreased circulating cortisol level, Hypoglycemic seizures, Hyperbilirubinemia |
OMIM:609734 |
| Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... |
ORPHA:3202 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cardiomyopathy |
OMIM:609016 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:614887 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circul... |
ORPHA:158048 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia |
ORPHA:2494 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:613070 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content |
OMIM:261750 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Portal fibrosis, Hepat... |
ORPHA:369 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Conjugated hyperbilirubinemia, Mic... |
OMIM:617156 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Enlarged tonsils, Hypoglyce... |
ORPHA:293964 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Cataract, Hypoglycemia, Ele... |
OMIM:608836 |
| Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:613313 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... |
ORPHA:324575 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Corneal arcus, N... |
OMIM:245900 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransfer... |
OMIM:619048 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
| Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
| Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Decreased liver function, Incr... |
OMIM:616299 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia |
OMIM:615085 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron... |
OMIM:619991 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia, Limite... |
OMIM:616738 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Increased hepatocellular lip... |
ORPHA:71 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Con... |
OMIM:613404 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp... |
OMIM:615710 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ... |
OMIM:608885 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... |
OMIM:611881 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
| Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
| Abetalipoproteinemia |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Reticulocytosis, Hepatome... |
ORPHA:14 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc... |
ORPHA:90041 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90037 |
| Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy |
ORPHA:35 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:3363 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... |
ORPHA:822 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
| Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Increased circulating farnesol concentration, Decreased LDL cholesterol co... |
OMIM:618156 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periportal fibrosis, Elevated hepatic tr... |
OMIM:619484 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin... |
ORPHA:400 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Intrah... |
OMIM:227810 |
| Mucolipidosis Type Iii |
|
Abnormal heart valve morphology, Corneal opacity, Abnormal aortic valve morphology |
ORPHA:577 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Sialidosis Type 2 |
|
Splenomegaly, Hepatomegaly, Ascites, Corneal opacity |
ORPHA:87876 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Cataract, Corneal opacity, Elevated circulating creatine kinase con... |
OMIM:613153 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Corneal opacity |
ORPHA:2370 |
| Diarrhea 13 |
|
Elevated hepatic transaminase, Hepatic steatosis, Recurrent hypoglycemia, Hypoalbuminemia |
OMIM:620357 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:617093 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... |
OMIM:615158 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, H... |
ORPHA:348 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
| Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati... |
OMIM:277900 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ... |
OMIM:232800 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Potocki-Lupski Syndrome |
|
Atrial septal defect, Patent foramen ovale, Hypocholesterolemia |
OMIM:610883 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... |
OMIM:619386 |
| Alpha-Mannosidosis |
|
Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Type II diabetes mellitus |
ORPHA:61 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Atretic gallbladder, ... |
ORPHA:30391 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1473 |
| Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... |
ORPHA:2137 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Pierson Syndrome |
|
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... |
OMIM:609049 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Hypoglycemia, Cardiomyopathy, Decreased liver function, Thrombocytopenia, Iris hypopigm... |
ORPHA:67048 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased serum iro... |
ORPHA:98870 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis... |
ORPHA:75563 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Corneal opacity, Developmental cataract |
OMIM:618815 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Osteoporosis, Thrombocytopenia |
OMIM:614727 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Radioulnar synostosis, Joint contracture of the 5th finger, Leukemia, Hypoplastic a... |
OMIM:194350 |
| Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Conjugated hyperb... |
OMIM:208085 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Gray Platelet Syndrome |
|
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... |
OMIM:139090 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Pancytopenia, Pancreatic fibro... |
OMIM:557000 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated... |
OMIM:619685 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Hyperbilirubinemia, Atrial septal defect, Elevated circulating lon... |
OMIM:614886 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt... |
ORPHA:79477 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Throm... |
ORPHA:848 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Increased circulati... |
OMIM:235200 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increase... |
OMIM:617872 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Corneal arcus, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice |
ORPHA:95715 |
| Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Cataract, Corneal opacity |
ORPHA:317 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Quebec Platelet Disorder |
|
Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Prolong... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Prolong... |
ORPHA:529799 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia |
OMIM:268150 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:95717 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:212140 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... |
OMIM:259720 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating branched chain amino acid conce... |
ORPHA:2394 |
| Lathosterolosis |
|
Elevated hepatic transaminase, Cataract, Bilobate gallbladder, Increased mean platelet volume, Ac... |
OMIM:607330 |
| Mucolipidosis Iv |
|
Abnormal abdomen morphology, Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
| Relapsing Fever |
|
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... |
ORPHA:91547 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hypertrophic... |
ORPHA:156 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Abnormality of the pancreas, Jaundice, Cholecystitis, Increased se... |
ORPHA:69665 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Hepatomegaly |
OMIM:266150 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Cataract, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomega... |
ORPHA:168577 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... |
ORPHA:100026 |
| Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi... |
OMIM:613471 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Niemann-Pick Disease, Type B |
|
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus, Hypercholesterolemia |
OMIM:144010 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia |
OMIM:613986 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... |
ORPHA:96180 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ... |
OMIM:261680 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
| Primary Biliary Cholangitis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,... |
ORPHA:186 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis |
ORPHA:713 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal... |
ORPHA:905 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
| Bachmann-Bupp Syndrome |
|
Hypoglycemia, Hyperbilirubinemia |
OMIM:619075 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Pericardial effusion, Cardiomyopathy, ... |
OMIM:212065 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Splenomegaly, Anem... |
OMIM:259700 |
| Graft Versus Host Disease |
|
Elevated hepatic transaminase, Jaundice, Chronic hepatitis, Lymphadenopathy, Hepatosplenomegaly, ... |
ORPHA:39812 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
| Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:95716 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia |
ORPHA:6 |
| Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Cataract, Corneal opacity, Hepatosplenomegaly, Abnormal heart morphology, Viscerome... |
ORPHA:93399 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia |
OMIM:615010 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Anemia, Neutropenia, Thrombocytopenia |
OMIM:617475 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Ventricular septal defect, Elevated circ... |
OMIM:614866 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Hypera... |
ORPHA:3008 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... |
ORPHA:98850 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia |
OMIM:619064 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Mirizzi Syndrome |
|
Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperbilirubinemia... |
ORPHA:521219 |
| Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
| Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract |
OMIM:617183 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
| Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
| Cystinosis |
|
Corneal opacity, Portal hypertension, Hypokalemia, Hypophosphatemia, Type I diabetes mellitus |
ORPHA:213 |
| Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Glycosuria, ... |
OMIM:229600 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia |
ORPHA:73272 |
| Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... |
ORPHA:29073 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... |
OMIM:615234 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Conjunctival icterus, Splenomegaly, Increased circulating ferritin... |
OMIM:194380 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula... |
ORPHA:264580 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic choles... |
ORPHA:69663 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic c... |
OMIM:614702 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia, Camptodactyly |
OMIM:619751 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Decreased circulating free fatty acid level, Increased ci... |
ORPHA:79644 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardio... |
OMIM:201475 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
ORPHA:42 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
| Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Corneal opacity |
ORPHA:93474 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Congenital Sialidosis Type 2 |
|
Hepatomegaly, Cataract, Corneal opacity, Hepatosplenomegaly, Developmental cataract, Abnormal hea... |
ORPHA:93400 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Corneal opacity, Elevated circulating creatine kinas... |
OMIM:301056 |
| Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Car... |
OMIM:616483 |
| Mucolipidosis Iii Gamma |
|
Aortic valve stenosis, Increased serum beta-hexosaminidase, Opacification of the corneal stroma |
OMIM:252605 |
| Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Reduced circulating transferrin concentration, Chylous ascites, Hypoalbuminemia, Cir... |
ORPHA:90363 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism |
OMIM:152950 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Leukopenia, Arthritis |
OMIM:152700 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Short Syndrome |
|
Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal pupil morphology, Insulin res... |
ORPHA:3163 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Ne... |
OMIM:301078 |
| Sengers Syndrome |
|
Osteopenia, Thrombocytopenia |
OMIM:212350 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Sialidosis Type 1 |
|
Splenomegaly, Cataract, Corneal opacity |
ORPHA:812 |
| Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly |
ORPHA:309288 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
| Alg12-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Muscular ventricular septal defect, Biventricular hy... |
ORPHA:79324 |
| Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Xanthelasma, O... |
ORPHA:425 |
| Scheie Syndrome |
|
Aortic valve stenosis, Corneal opacity |
OMIM:607016 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Left a... |
ORPHA:57777 |
| Multiple Sulfatase Deficiency |
|
Splenomegaly, Hepatomegaly, Cataract, Corneal opacity |
ORPHA:585 |
| Babesiosis |
|
Hemolytic anemia, Splenomegaly, Limitation of joint mobility, Leukopenia, Thrombocytopenia |
ORPHA:108 |
| Gaucher Disease Type 1 |
|
Osteopenia, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomegaly, Osteoarthr... |
ORPHA:77259 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90036 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
| Aicardi-Goutieres Syndrome 5 |
|
Flexion contracture, Thrombocytopenia |
OMIM:612952 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Corneal opacity, Cardiomegaly |
ORPHA:349 |
| Fumarase Deficiency |
|
Conjunctival icterus, Intrahepatic cholestasis, Perimembranous ventricular septal defect, Hyperbi... |
OMIM:606812 |
| Isolated Agammaglobulinemia |
|
Abnormality of neutrophils, Thrombocytopenia, Arthritis, Abnormal lymphocyte morphology, Anemia |
ORPHA:229717 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypoglycemic seizure... |
ORPHA:199296 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Kaufman Oculocerebrofacial Syndrome |
|
Ventricular septal defect, Microcornea, Astigmatism, Hypocholesterolemia, Atrial septal defect |
OMIM:244450 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated hepati... |
OMIM:619355 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ... |
OMIM:212138 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital th... |
OMIM:605432 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:618116 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, Abnormal heart morphology |
ORPHA:1867 |
| Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Jaundice, Abnormal hea... |
OMIM:214110 |
| Aicardi-Goutieres Syndrome 4 |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610333 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
| Zellweger Syndrome |
|
Hepatomegaly, Cataract, Corneal opacity, Ventricular septal defect, Brushfield spots, Jaundice, H... |
ORPHA:912 |
| Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Thrombocytopenia |
OMIM:243500 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Leukopenia, Cardiomyopathy, H... |
OMIM:251000 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Keratoconjunctivitis, Chronic hepatitis... |
OMIM:269200 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal opacity |
ORPHA:496790 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Cardiomegaly, Hepatocel... |
ORPHA:465508 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu... |
OMIM:613011 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Visceromegaly, Opacification of the corneal stroma, Hepatosplenomegaly |
OMIM:256540 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... |
OMIM:226990 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Corneal opacity |
OMIM:607015 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
| Felty Syndrome |
|
Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Anemia, Arthritis, Neutropenia... |
ORPHA:47612 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| Fetal Gaucher Disease |
|
Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Arthrogryposis multip... |
ORPHA:85212 |
| Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abn... |
ORPHA:1830 |
| Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Splenomegaly, Jaundice, Decreased liver fu... |
OMIM:251290 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
| Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
| Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
| Farber Disease |
|
Elevated hepatic transaminase, Corneal opacity, Intrahepatic cholestasis with episodic jaundice, ... |
ORPHA:333 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:617713 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
| Distal Xq28 Microduplication Syndrome |
|
Patent foramen ovale, Neonatal hyperbilirubinemia |
ORPHA:293939 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prol... |
ORPHA:90674 |
| Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Atrial septal defect, Cholangitis, Splenomegaly, Bil... |
OMIM:613610 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Acute leukemia |
ORPHA:281090 |
| Propionic Acidemia |
|
Pancytopenia, Osteoporosis, Anemia, Neutropenia, Thrombocytopenia |
OMIM:606054 |
| Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium |
OMIM:619339 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia |
OMIM:150550 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Thrombocytopenia, Anemia |
OMIM:619151 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Cor pulmonale, Macronodular cirrhosis, Opacification of the corneal stroma, Abnormal T cell morph... |
OMIM:215250 |
| Hypercholesterolemia, Familial, 1 |
|
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus |
OMIM:143890 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
| Walker-Warburg Syndrome |
|
Cataract, Corneal opacity, Microcornea, Abnormal circulating creatine kinase concentration, Iris ... |
ORPHA:899 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Abnormal heart morphology, Abnormality of the liver, Hyperbilirubinemia, Hypertrophic cardiomyopa... |
ORPHA:464321 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:101028 |
| Congenital Toxoplasmosis |
|
Thrombocytopenia, Anemia |
ORPHA:858 |
| Von Willebrand Disease, Type 3 |
|
Joint hemorrhage, Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:507 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Anemia |
ORPHA:2123 |
| Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... |
ORPHA:824 |
| Neurooculorenal Syndrome |
|
Iris atrophy, Decreased circulating cortisol level, Dextrocardia, Conjugated hyperbilirubinemia, ... |
OMIM:620305 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Developmental cataract, Glycosuria, Elevated circulating gl... |
OMIM:231680 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
| Dubowitz Syndrome |
|
Aplastic anemia, Hypoplasia of the iris, Acute lymphoblastic leukemia, Hypocholesterolemia, Megal... |
OMIM:223370 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Arthritis, Coombs-positive hemolytic anemia, N... |
OMIM:304790 |
| Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... |
OMIM:308240 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia |
OMIM:616050 |
| Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... |
ORPHA:79277 |
| Multiple Sulfatase Deficiency |
|
Splenomegaly, Hepatomegaly, Corneal opacity |
OMIM:272200 |
| Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Ascites, Corneal opacity, Hepatitis |
ORPHA:584 |
| Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Anemia, Neutropenia |
ORPHA:289916 |
| Hurler Syndrome |
|
Hepatomegaly, Corneal opacity, Splenomegaly, Enlarged tonsils, Hepatosplenomegaly, Cardiomyopathy... |
OMIM:607014 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Glyco... |
OMIM:616026 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:613989 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia |
ORPHA:3240 |
| Lowry-Maclean Syndrome |
|
Corneal opacity, Abnormality of the abdominal organs, Developmental glaucoma, Megalocornea, Atrio... |
ORPHA:2409 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia |
ORPHA:27 |
| Leptospirosis |
|
Hepatomegaly, Pericarditis, Jaundice, Hepatitis, Lymphadenopathy, Hyperproteinemia, Elevated seru... |
ORPHA:509 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Thrombocytopenia, Anemia, Neutropenia |
ORPHA:79312 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
| Atelis Syndrome 1 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:620184 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
| Familial Dysautonomia |
|
Hyponatremia, Abnormal peritoneum morphology, Corneal opacity, Abnormal pupil morphology, Corneal... |
ORPHA:1764 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular ca... |
OMIM:232220 |
| Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Hypoglycemia, Ne... |
OMIM:619418 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase... |
OMIM:620300 |
| Thrombocytopenia 1 |
|
Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm... |
OMIM:313900 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
| Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuric... |
OMIM:232200 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Conjunctivitis, Corneal opacity |
OMIM:602562 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Hypoglycemia, Portal hypertension, Cholestasis, Hypo... |
OMIM:613658 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:90673 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Increased proinsulin:in... |
OMIM:106210 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Fabry Disease |
|
Conjunctival telangiectasia, Abnormal endocardium morphology, Cataract, Corneal opacity, Corneal ... |
ORPHA:324 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Gm1 Gangliosidosis |
|
Corneal opacity, Ventricular septal defect, Splenomegaly, Abnormal heart morphology, Hepatospleno... |
ORPHA:354 |
| Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemi... |
OMIM:276700 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia |
OMIM:249270 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Cataract, Ventricular septal defect, Splenomegaly, Cholestatic liver disease, Hypoa... |
OMIM:270400 |
| Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity, Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
| Sea-Blue Histiocytosis |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia... |
ORPHA:163979 |
| Preeclampsia |
|
Thrombocytopenia |
ORPHA:275555 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... |
OMIM:617021 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Increased circulating cortisol level, Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Double outlet right ventricle, Developmental cataract, Neutropenia, Mi... |
ORPHA:163956 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Pancreatic cysts, J... |
OMIM:208500 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca |
ORPHA:1806 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Cardiac amyloidosis, Hypertrophic ca... |
ORPHA:85451 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... |
ORPHA:3226 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Corneal opacity, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Megalocorne... |
ORPHA:137675 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Pathologic fracture, Thrombocytopenia |
OMIM:112200 |
| Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Pathologic fracture, Thrombocytopenia |
OMIM:230800 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Osteoporosis, Pancytopenia, Aplastic anemia, Thrombocytopenia |
OMIM:224230 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Extrahepatic portal hypertension, Hepatic arteriovenous malformation, H... |
ORPHA:2929 |
| Mosaic Trisomy 9 |
|
Corneal opacity, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Asplen... |
ORPHA:99776 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Thrombocytopenia |
OMIM:613990 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:612783 |
| Hurler Syndrome |
|
Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Abnormal heart valve morphology, Splen... |
ORPHA:93473 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Recurrent hypog... |
OMIM:256810 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Anemia |
ORPHA:69077 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal cornea morphology, Corneal opacity |
ORPHA:357058 |
| Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Aortic valve stenosis, Corneal opacity, Opacification of the corneal stroma |
OMIM:253010 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Osteoporosis, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia... |
OMIM:127550 |
| Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Jaundice, Hyperammonemia, Hyperprolinemia... |
OMIM:615751 |
| X-Linked Agammaglobulinemia |
|
Osteomyelitis, Anemia, Arthritis, Neutropenia, Thrombocytopenia |
ORPHA:47 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea |
OMIM:615145 |
| Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Corneal opacity, Abnormal pericardium mor... |
ORPHA:355 |
| Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microcornea, Cataract, Iris coloboma, Sclerocornea |
ORPHA:139471 |
| Oculomaxillofacial Dysostosis |
|
Corneal opacity |
ORPHA:1794 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia |
OMIM:618048 |
| Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Corneal opacity, Abnormal heart valve morphology, Splenomegaly, Cardiomyopathy |
OMIM:253220 |
| Mucopolysaccharidosis Type 1 |
|
Corneal opacity, Abnormality of the tonsils, Abnormal heart valve morphology, Splenomegaly, Abnor... |
ORPHA:579 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation |
ORPHA:85167 |
| Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia |
OMIM:613987 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Thrombocytopenia... |
OMIM:612394 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
| Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Thrombocytopenia, Red... |
OMIM:617052 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocy... |
OMIM:242900 |
| Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Elevated ci... |
ORPHA:99829 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypophosphatemic rickets, Corneal opacity |
OMIM:163200 |
| Tularemia |
|
Thrombocytopenia, Leukocytosis, Anemia |
ORPHA:3392 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cataract, Corneal opacity, Adenoiditis, Cardiomegaly, Splenomegaly, Recurrent tonsi... |
ORPHA:581 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia |
OMIM:619644 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
| Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Corneal opacity, Elevated circulating alpha-fetoprot... |
OMIM:615273 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Cataract, Bicuspid aortic valve, Ventricular septal defect, Abnorm... |
OMIM:619475 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
| Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Increased serum beta-hexosaminidase, Hyperopic astigmatism |
OMIM:252600 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Axenfeld anomaly, Opacification of the corneal st... |
OMIM:612582 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Irregular ossification... |
OMIM:260400 |
| Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Congenital hypoplastic anemia, Cholestasis... |
OMIM:619488 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Buphthalmos, Peter... |
OMIM:236670 |
| 8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation |
ORPHA:284160 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
| Ivic Syndrome |
|
Joint stiffness, Leukocytosis, Radioulnar synostosis, Thrombocytopenia, Synostosis of carpal bones |
ORPHA:2307 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Thrombocytopenia, Hepatosplenomegaly |
ORPHA:210136 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612926 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
| Fibular Hemimelia |
|
Joint laxity, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitation of joint mob... |
ORPHA:93323 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia |
OMIM:619463 |
| Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Anemia, Camptodactyly |
OMIM:608104 |
| Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
| Stromme Syndrome |
|
Accessory spleen, Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma |
OMIM:243605 |
| Cog4-Cdg |
|
Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Cataract, Corneal opacity |
ORPHA:2399 |
| Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma |
ORPHA:1647 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Ventricular septal defect, Sclerocornea, Aniridia, Iris coloboma |
ORPHA:251038 |
| Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
| Braddock-Carey Syndrome 1 |
|
Thrombocytopenia, Camptodactyly |
OMIM:619980 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia |
OMIM:614074 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Thrombocytopenia, Pancytopenia, Anemia |
OMIM:613845 |
| Wagro Syndrome |
|
Aniridia, Cataract, Corneal opacity |
OMIM:612469 |
| Johanson-Blizzard Syndrome |
|
Hepatomegaly, Diabetes mellitus, Ventricular septal defect, Elevated circulating aspartate aminot... |
OMIM:243800 |
| Zika Virus Disease |
|
Arthritis, Thrombocytopenia |
ORPHA:448237 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
| Mucopolysaccharidosis Type 6 |
|
Splenomegaly, Abnormal heart valve morphology, Opacification of the corneal stroma |
ORPHA:583 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Giant platelets, Anemia, Camptodactyly, Thrombocytopenia |
OMIM:611209 |
| Griscelli Syndrome |
|
Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils |
ORPHA:381 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612925 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Aplasia of the thymus, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Atrial septa... |
OMIM:620186 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
| Tbck-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Abnormal circulating lipid concentration, Corneal opacity, Pulmonic st... |
ORPHA:488632 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Flexion contracture, Anemia, Arthritis, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Increased bone mineral density, Splenomegaly, Osteolysis, Increased susceptibility ... |
ORPHA:77261 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Ocular albinism, Anemia, Iris hypopigmentation |
ORPHA:2719 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Vexas Syndrome |
|
Arthritis, Macrocytic anemia, Thrombocytopenia |
OMIM:301054 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Pathologic fracture, Joint contracture of... |
OMIM:263700 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures, Anemia, Pathologic fracture, Thr... |
OMIM:612199 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:292 |
| Alg8-Cdg |
|
Thrombocytopenia, Anemia, Camptodactyly |
ORPHA:79325 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
| Transaldolase Deficiency |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:606003 |
| Focal Dermal Hypoplasia |
|
Acute hepatic failure, Corneal opacity, Ventricular septal defect, Ectopia lentis, Hypoplasia of ... |
ORPHA:2092 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae, Abnormal heart morp... |
OMIM:601499 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Anemia, Neutropenia |
OMIM:614520 |
| Mirage Syndrome |
|
Radial club hand, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia |
OMIM:617053 |
| Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Sclerocornea, Hypoplasia of the iris, Subvalvula... |
OMIM:613001 |
| Drug-Induced Lupus Erythematosus |
|
Thrombocytopenia, Anemia |
ORPHA:231111 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma... |
OMIM:232240 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... |
OMIM:256800 |
| Pediatric-Onset Graves Disease |
|
Splenomegaly, Craniosynostosis, Neutropenia in presence of anti-neutropil antibodies, Thrombocyto... |
ORPHA:525731 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Ventricular septal defect, Brushfield sp... |
OMIM:214100 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... |
OMIM:214500 |
| Meckel Syndrome |
|
Accessory spleen, Cataract, Pancreatic fibrosis, Sclerocornea, Asplenia, Congenital hepatic fibro... |
ORPHA:564 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia |
OMIM:222300 |
| Lathosterolosis |
|
Hepatomegaly, Cataract, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morpholo... |
ORPHA:46059 |
| Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
| Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Peters anomaly |
OMIM:120200 |
| Boutonneuse Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:83313 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
| Carpenter Syndrome 1 |
|
Ventricular septal defect, Microcornea, Transposition of the great arteries, Polysplenia, Opacifi... |
OMIM:201000 |
| Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Corneal opacity, Splenomegaly, Cardiomyopathy, Mitral stenosis |
OMIM:253200 |
| Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Mitral valve calcification, Corneal opacity, Abnormality of the spleen, Thrombocyto... |
ORPHA:2072 |
| Mucopolysaccharidosis Type 4 |
|
Abnormal heart valve morphology, Corneal opacity |
ORPHA:582 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Iris coloboma, Sclerocornea |
ORPHA:77298 |
| Kaposiform Lymphangiomatosis |
|
Splenomegaly, Fractures of the long bones, Osteolysis, Hepatosplenomegaly, Anemia, Abnormal splee... |
ORPHA:464329 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
| Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia |
ORPHA:90060 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Hypoalbuminemia, Anemia |
ORPHA:79396 |
| Methylmalonic Aciduria, Cblb Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251110 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:614576 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of ... |
ORPHA:391487 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Abnormal pupil morphology, Buphthalmos, A... |
ORPHA:534 |
| Ivic Syndrome |
|
Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Leukocytosis, R... |
OMIM:147750 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Eosinophilia, Ventricular septal defect, Pancreatic cysts, Thrombocyto... |
OMIM:274000 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria,... |
OMIM:175780 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:274150 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
| Cyclic Neutropenia |
|
Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia |
ORPHA:2686 |
| Snakebite Envenomation |
|
Thrombocytopenia |
ORPHA:449285 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... |
ORPHA:79124 |
| Prolidase Deficiency |
|
Splenomegaly, Thrombocytopenia, Anemia |
OMIM:170100 |
| Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Corneal opacity, Abnormal heart valve morphology, Abnormal pulmonary valve morpholo... |
ORPHA:580 |
| Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Arthritis, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia |
ORPHA:93552 |
| Overlap Myositis |
|
Leukopenia, Rheumatoid arthritis, Thrombocytopenia, Arthritis |
ORPHA:206572 |
| Alpha-Mannosidosis, Infantile Form |
|
Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Astigmatism |
ORPHA:309282 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate... |
OMIM:608233 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Flexion contracture, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:617303 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Corneal opacity, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomega... |
ORPHA:217085 |
| Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia |
ORPHA:79242 |
| Acquired Purpura Fulminans |
|
Thrombocytopenia |
ORPHA:49566 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Corneal opacity, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomega... |
ORPHA:217093 |
| Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
| Castleman Disease |
|
Myelofibrosis, Decreased mean corpuscular volume, Thrombocytopenia, Anemia |
ORPHA:160 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Muscular ventricular septal defect, Hyperbilirubinemia, Prolonged neon... |
OMIM:210710 |
| Smith-Kingsmore Syndrome |
|
Thrombocytopenia |
OMIM:616638 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
ORPHA:540 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Flexion contracture, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytop... |
OMIM:227645 |
| Fryns Syndrome |
|
Abnormal cardiac septum morphology, Corneal opacity, Tetralogy of Fallot |
ORPHA:2059 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:235400 |
| Lysinuric Protein Intolerance |
|
Recurrent fractures, Splenomegaly, Osteoporosis, Anemia, Leukopenia, Hemophagocytosis, Thrombocyt... |
OMIM:222700 |
| Lig4 Syndrome |
|
Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia |
OMIM:606593 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:277380 |
| De Barsy Syndrome |
|
Ventricular septal defect, Cataract, Corneal opacity |
ORPHA:2962 |
| Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Flexion contracture, Thrombocytopenia, Neutropenia |
OMIM:616271 |
| Catastrophic Antiphospholipid Syndrome |
|
Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:464343 |
| Recon Progeroid Syndrome |
|
Joint laxity, Thrombocytopenia, Anemia |
OMIM:620370 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia |
ORPHA:169090 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Thrombocytopenia, Anemia |
OMIM:619743 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity, Mitral valve prolapse |
OMIM:259600 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia |
ORPHA:508542 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia |
ORPHA:3322 |
| Limb Body Wall Complex |
|
Corneal opacity, Ventricular septal defect, Abnormal heart morphology, Abnormality of the liver, ... |
ORPHA:2369 |
| Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Eosinophilia, Cor pulmonale, Keratoconjunctivitis, Opacification of the corneal stroma,... |
OMIM:158310 |
| Immunodeficiency 40 |
|
T lymphocytopenia, Thrombocytopenia |
OMIM:616433 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Overriding aorta, Ventricular septal defect, Sclerocornea, Peters anomaly, Atrial septa... |
OMIM:309801 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Hypertrophic cardi... |
OMIM:252500 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia... |
OMIM:610377 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Corneal opacity, Acute lymphoblastic leukemia, Subvalvular aortic stenosis, Atrial sept... |
ORPHA:1052 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Corneal opacity, Abnormal heart valve morphology, Posterior subcapsular cataract, Aortic valve st... |
ORPHA:536471 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Ectopia pupillae, Cataract, Sclerocornea |
OMIM:615877 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly... |
OMIM:256040 |
| Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma |
OMIM:601853 |
| Incontinentia Pigmenti |
|
Keratitis, Cataract, Corneal opacity, Eosinophilia |
ORPHA:464 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
| Methylmalonic Aciduria, Cbla Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251100 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly, Hepatospleno... |
OMIM:612541 |
| Mucopolysaccharidosis, Type Iva |
|
Hepatomegaly, Abnormal heart valve morphology, Opacification of the corneal stroma |
OMIM:253000 |
| Williams Syndrome |
|
Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Cardiomegaly, Atrial s... |
ORPHA:904 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
| Avian Influenza |
|
Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:454836 |
| Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
| Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
| Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol... |
ORPHA:42775 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Corneal opacity |
OMIM:601812 |
| Gaucher Disease, Perinatal Lethal |
|
Splenomegaly, Hepatosplenomegaly, Anemia, Arthrogryposis multiplex congenita, Thrombocytopenia |
OMIM:608013 |
| Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Corneal crystals, Glycosuria, Abnormal cornea morphology, Hypok... |
ORPHA:411629 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia |
OMIM:308230 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia |
OMIM:614946 |
| Ebola Hemorrhagic Fever |
|
Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
| Chime Syndrome |
|
Ventricular septal defect, Corneal opacity, Pulmonary valve atresia, Acute leukemia, Transpositio... |
ORPHA:3474 |
| Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia |
OMIM:615758 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Bacterial Toxic-Shock Syndrome |
|
Osteomyelitis, Increased circulating myelocyte count, Arthritis, Septic arthritis, Increased circ... |
ORPHA:36234 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Aortic valve stenosis, Astigmatism, Corneal opacity |
ORPHA:464311 |
| Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume, Camptodactyly |
OMIM:616737 |
| Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Normochromic anemia, Thrombocytopenia |
OMIM:618775 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Dilated cardiomyopathy, Sclerocornea |
OMIM:300952 |
| Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Thrombocytopenia |
OMIM:225750 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Glyc... |
ORPHA:411634 |
| Dyskeratosis Congenita |
|
Recurrent fractures, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Osteoporosis, An... |
ORPHA:1775 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia |
ORPHA:169105 |
| Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Cataract, Hypoalbuminemia, Opacification of the corneal stroma |
OMIM:251300 |
| Noonan Syndrome 4 |
|
Thrombocytopenia |
OMIM:610733 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Aortic valve stenosis, Astigmatism, Corneal opacity |
ORPHA:464306 |
| Dyggve-Melchior-Clausen Disease |
|
Corneal opacity |
ORPHA:239 |
| Smith-Lemli-Opitz Syndrome |
|
Cataract, Ventricular septal defect, Sclerocornea, Abnormality of the gallbladder, Elevated circu... |
ORPHA:818 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea |
OMIM:614230 |
| Sepsis In Premature Infants |
|
Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:90051 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
| Adams-Oliver Syndrome |
|
Leukopenia, Thrombocytopenia |
ORPHA:974 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Thrombocytopenia, Anemia, Camptodactyly |
ORPHA:261323 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosp... |
ORPHA:3260 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Diabetes mellitus, Hypomagnesemia, Splenomegaly, Reduced blood urea n... |
OMIM:219800 |
| 3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
| Encephalocraniocutaneous Lipomatosis |
|
Aortic valve stenosis, Corneal opacity, Iris coloboma, Tricuspid valve prolapse |
ORPHA:2396 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Corneal opacity, Sclerocornea, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac se... |
ORPHA:2556 |
| Lujo Hemorrhagic Fever |
|
Stiff neck, Leukocytosis, Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319213 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Diabetes... |
ORPHA:649 |
| Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Thrombocytopenia, Anemia |
OMIM:620072 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Recurrent fractures, Anemia, Leukopenia, Elliptocytosis, Osteopetrosis, Thrombocyto... |
ORPHA:2785 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fused cervical vertebrae, Thrombocytopenia |
ORPHA:3320 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity |
ORPHA:364577 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Joint hypermobility, Splenomegaly, Leukopenia, Thrombocytopenia |
OMIM:300972 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Thrombocytopenia |
ORPHA:99901 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteoporosis, Pathologic fr... |
ORPHA:77293 |
| Digeorge Syndrome |
|
Ventricular septal defect, Sclerocornea, Thrombocytopenia, Splenomegaly, Tetralogy of Fallot, Abn... |
OMIM:188400 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia |
OMIM:253270 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal heart valve morphology, Sclerocornea, Abnormality of the gallbladder, Abnormal cardiac s... |
ORPHA:280 |
| Dubowitz Syndrome |
|
Abnormality of neutrophils, Craniosynostosis, Acute lymphoblastic leukemia, Anemia, Joint hyperfl... |
ORPHA:235 |
| Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... |
ORPHA:244242 |
| Shigellosis |
|
Leukocytosis, Arthritis, Microangiopathic hemolytic anemia, Splenic abscess, Thrombocytopenia |
ORPHA:810 |
| Larsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Corneal opacity |
OMIM:150250 |
| Fanconi Anemia, Complementation Group F |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:603467 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
| Moebius Syndrome |
|
Corneal opacity |
ORPHA:570 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Joint stiffness, Flexion contracture, Hepatosplenomegaly, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:505248 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia |
ORPHA:457351 |
| Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Opacification of the corneal stroma |
ORPHA:1692 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Atrial septal defect, Neonatal hyperbilirubinemia |
OMIM:300896 |
| Brucellosis |
|
Osteomyelitis, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Knee osteoarthritis, ... |
ORPHA:1304 |
| Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Corneal opacity, Hypertriglyceridemia, Congenital malformation of the left heart, Type ... |
ORPHA:3455 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma, Cardiomegaly |
ORPHA:79280 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia |
ORPHA:572798 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227646 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:620005 |
| Gaucher Disease, Type Ii |
|
Splenomegaly, Thrombocytopenia, Anemia |
OMIM:230900 |
| Q Fever |
|
Osteomyelitis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia |
ORPHA:781 |
| Peters Plus Syndrome |
|
Cataract, Corneal opacity, Bicuspid pulmonary valve, Microcornea, Abnormal cardiac septum morphol... |
ORPHA:709 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Osteoporosis, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Pathologic fr... |
ORPHA:470 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
| Oculoectodermal Syndrome |
|
Atrial septal defect, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermo... |
OMIM:600268 |
| Roberts Syndrome |
|
Progressive flexion contractures, Craniosynostosis, Knee flexion contracture, Radioulnar synostos... |
ORPHA:3103 |
| Proboscis Lateralis |
|
Cataract, Ventricular septal defect, Corneal opacity, Microcornea, Iris coloboma |
ORPHA:141099 |
| Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Corneal opacity, Mitral stenosis, Aortic val... |
ORPHA:740 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Flexion contracture, Limb joint contracture, Thrombocytopenia |
OMIM:301072 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
| Osteogenesis Imperfecta |
|
Osteopenia, Recurrent fractures, Joint hypermobility, Fractures of the long bones, Osteoarthritis... |
ORPHA:666 |
| Mogs-Cdg |
|
Thrombocytopenia, Hepatosplenomegaly |
ORPHA:79330 |
| Neurocardiofaciodigital Syndrome |
|
Cataract, Sclerocornea, Double inlet left ventricle, Atrial septal defect, Tetralogy of Fallot |
OMIM:619869 |
| Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Chronic myelogenous leukemia, Lisch nodules, Leukemia, Heterochromia i... |
ORPHA:636 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Corneal opacity, Ventricular septal hypertrophy |
OMIM:608670 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
| Microphthalmia, Syndromic 3 |
|
Cataract, Ventricular septal defect, Sclerocornea |
OMIM:206900 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Thrombocytopenia |
OMIM:254900 |
| Cockayne Syndrome B |
|
Hepatomegaly, Splenomegaly, Developmental cataract, Microcornea, Hypoplasia of the iris, Opacific... |
OMIM:133540 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Buphthalmos, Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy |
ORPHA:495875 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Osteoporosis, Anemia, Leukopenia, Thrombocytopenia |
OMIM:305000 |
| Ablepharon Macrostomia Syndrome |
|
Corneal erosion, Corneal opacity |
ORPHA:920 |
| Tick-Borne Encephalitis |
|
Leukopenia, Leukocytosis, Stiff neck, Thrombocytopenia |
ORPHA:297 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Splenomegaly, Anemia, Arthritis, Thrombocytopenia |
OMIM:615846 |
| Atelis Syndrome 2 |
|
Thrombocytopenia, Anemia |
OMIM:620185 |
| Cornelia De Lange Syndrome 1 |
|
Limited elbow extension, Elbow flexion contracture, Thrombocytopenia |
OMIM:122470 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Flexion contracture, Increased mean platelet volume, Camptodactyly |
ORPHA:487796 |
| Cockayne Syndrome A |
|
Hepatomegaly, Cataract, Splenomegaly, Thymic hormone decreased, Opacification of the corneal stroma |
OMIM:216400 |
| Stevens-Johnson Syndrome |
|
Anemia, Thrombocytopenia, Abnormality of neutrophils |
ORPHA:36426 |
| Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Anemia, Corneal opacity |
ORPHA:2908 |
| Autosomal Dominant Cutis Laxa |
|
Dilatation of the ventricular cavity, Corneal opacity, Developmental cataract |
ORPHA:90348 |
| Fraser Syndrome 1 |
|
Abnormal thymus morphology, Corneal opacity, Abnormal heart morphology |
OMIM:219000 |
| Neuroleptic Malignant Syndrome |
|
Thrombocytosis, Leukocytosis, Thrombocytopenia |
ORPHA:94093 |
| Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Anemia, Neutropenia |
ORPHA:537 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619005 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Opacification of the c... |
OMIM:253280 |
| Nijmegen Breakage Syndrome |
|
T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia |
OMIM:251260 |
| Insulin-Resistance Syndrome Type B |
|
Leukopenia, Osteoarthritis, Thrombocytopenia |
ORPHA:2298 |
| Alport Syndrome 1, X-Linked |
|
Thrombocytopenia |
OMIM:301050 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Reduced bone mineral density, Leuko... |
ORPHA:84 |
| Jacobsen Syndrome |
|
Flexion contracture, Thrombocytopenia |
OMIM:147791 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:79282 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia, Arthritis |
ORPHA:536 |
| Yunis-Varon Syndrome |
|
Cataract, Ventricular septal defect, Sclerocornea, Cardiomegaly, Cardiomyopathy, Atrial septal de... |
ORPHA:3472 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, Thrombocytopenia |
OMIM:619525 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cataract, Corneal opacity, Ventricular septal defect, Biliary tract abnormality... |
OMIM:268300 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis |
ORPHA:2273 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Splenomegaly, Anemia, Neutropenia, Hypoplastic spleen, Thrombocyto... |
ORPHA:699 |
| Rift Valley Fever |
|
Thrombocytopenia, Anemia |
ORPHA:319251 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia |
ORPHA:647 |
| 22Q11.2 Deletion Syndrome |
|
Abnormality of thrombocytes, Splenomegaly, Multiple suture craniosynostosis, Joint hyperflexibili... |
ORPHA:567 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Leukopenia, Normochromic anemia, Arthritis, Decreased proportion of CD4-positi... |
ORPHA:289390 |
| Van Den Ende-Gupta Syndrome |
|
Sclerocornea |
OMIM:600920 |
| Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Patent f... |
OMIM:263650 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Leukocytosis, Septic arthritis, Thrombocytopenia |
ORPHA:544482 |
| Fryns Syndrome |
|
Ectopic pancreatic tissue, Ventricular septal defect, Polysplenia, Opacification of the corneal s... |
OMIM:229850 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619004 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Pterygium |
ORPHA:910 |
| Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Leukopenia, Arthritis, Abnor... |
ORPHA:99826 |
| Stuve-Wiedemann Syndrome 1 |
|
Opacification of the corneal stroma |
OMIM:601559 |
| Hemorrhagic Fever-Renal Syndrome |
|
Thrombocytopenia, Leukocytosis, Anemia |
ORPHA:340 |
| Kikuchi-Fujimoto Disease |
|
Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia |
ORPHA:50918 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Stiff neck, Splenomegaly, Leukocytosis, Leukopenia, Thrombocytopenia |
ORPHA:99827 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Elevated circulating creatine kinase concentration, Opacification of the corneal stroma |
OMIM:615287 |
| Sarcoidosis |
|
Hemolytic anemia, Eosinophilia, Increased T cell count, Bone cyst, Anemia, Leukopenia, Thrombocyt... |
ORPHA:797 |
| Jacobsen Syndrome |
|
Thrombocytopenia |
ORPHA:2308 |
| Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, He... |
ORPHA:51 |
| Hereditary Acrokeratotic Poikiloderma |
|
Opacification of the corneal stroma, Keratoconjunctivitis |
ORPHA:2907 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:731 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Thrombocytopenia |
ORPHA:79078 |
| Exercise-Induced Malignant Hyperthermia |
|
Thrombocytopenia |
ORPHA:466650 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Synovitis |
OMIM:163950 |
| Acute Liver Failure |
|
Thrombocytopenia |
ORPHA:90062 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions, Atrial septal defect,... |
OMIM:308205 |
| Microphthalmia, Syndromic 6 |
|
Microcornea, Sclerocornea |
OMIM:607932 |
| Yunis-Varon Syndrome |
|
Cataract, Ventricular septal defect, Sclerocornea, Cardiomyopathy, Tetralogy of Fallot, Patent fo... |
OMIM:216340 |
