| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Corneal arcus, Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulatin... |
OMIM:620058 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... |
OMIM:619868 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Hyperbilirubinemia, Elevat... |
OMIM:620010 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:619874 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia, Hyperbilirubinemia |
OMIM:618660 |
| Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... |
OMIM:237800 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglyc... |
OMIM:232700 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Rotor Syndrome |
|
Intermittent jaundice, Storage in hepatocytes, Jaundice, Conjunctival icterus, Hyperbilirubinemia... |
ORPHA:3111 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg... |
OMIM:214900 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... |
OMIM:267700 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic failure, Hepatic fibrosis, Increased total iron binding capacity, Jaundice, Hyperbilirubi... |
OMIM:616278 |
| Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia |
ORPHA:79235 |
| Dubin-Johnson Syndrome |
|
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality |
OMIM:237500 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Anemia, Type II diabetes mellitus, Jaundice, Elevated hepatic transaminase, Erythroid ... |
OMIM:616860 |
| Crigler-Najjar Syndrome Type 1 |
|
Abnormality of the liver, Unconjugated hyperbilirubinemia, Biliary tract abnormality, Neonatal hy... |
ORPHA:79234 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Unc... |
OMIM:210500 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Elevated circulating alanine aminotransferase concentration, Microvesicular hepat... |
OMIM:605814 |
| Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619130 |
| Fish-Eye Disease |
|
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
| Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Increased serum bile acid concentra... |
OMIM:619256 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Elevated hepatic transaminase, Pancytope... |
OMIM:603553 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Steatorrhea,... |
OMIM:607765 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:308600 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Jaundice, Conjugated hyperbilirubinemia |
OMIM:237550 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia, Jaundice |
OMIM:237900 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:606785 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Radioulnar synostosis |
ORPHA:71289 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification |
ORPHA:3319 |
| Hyperbilirubinemia, Rotor Type |
|
Jaundice, Conjugated hyperbilirubinemia |
OMIM:237450 |
| Citrullinemia Type Ii |
|
Hypercholesterolemia, Hepatic fibrosis, Elevated hepatic transaminase, Hepatocellular carcinoma, ... |
ORPHA:247585 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Anisopoikilocytosis, Myelofibrosis, Thrombocytopenia, Splenomegaly |
OMIM:617441 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Hepatomegaly, Microcornea |
ORPHA:2432 |
| Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies |
OMIM:614164 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Refrac... |
OMIM:231095 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:218800 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Abnormality of the liver, Corneal opacity, Hepatomegaly |
ORPHA:1980 |
| Edinburgh Malformation Syndrome |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:129850 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... |
ORPHA:247598 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Splenomegaly, Hepatomegaly |
OMIM:619175 |
| Fish-Eye Disease |
|
Lymphadenopathy, Decreased HDL cholesterol concentration, Corneal opacity, Hepatomegaly, Splenome... |
ORPHA:79292 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... |
OMIM:619662 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Steatorrhea, Intrah... |
OMIM:235555 |
| Galactosemia Iv |
|
Cataract, Hypergalactosemia, Prolonged neonatal jaundice |
OMIM:618881 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Congenital hemolytic anemia, Unconjugated hyperbilirubinemia, Elevated tran... |
ORPHA:766 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia, Jaundice, Hepatic failure, Elevated hepatic transaminase |
OMIM:143500 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Ascites |
ORPHA:890 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Patent foramen ovale, Increased circulating free fatty acid level, Vent... |
ORPHA:26793 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Hepatic failure, Anemia, Reduced natural killer cell count, Neutropenia, ... |
ORPHA:158057 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
| Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, H... |
OMIM:306000 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... |
OMIM:616834 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... |
OMIM:187800 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Abnormality of the pancreas, Polycystic liver disease, Hepatomegaly |
ORPHA:2924 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia |
OMIM:144300 |
| Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
| Bile Acid Conjugation Defect 1 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ... |
OMIM:619232 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hepatic failure, Jaundice, Elevated hepatic transaminase, Cholestasis,... |
OMIM:618528 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... |
OMIM:613812 |
| Malaria |
|
Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia |
ORPHA:673 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... |
OMIM:246700 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
| Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H... |
OMIM:603554 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intermittent jaundice, Increased serum bile acid concentration, Hepatomegaly, Intrahepatic choles... |
OMIM:243300 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Jaundice, Cataract, Hypoproteinemia, Elevated hepatic transaminase |
OMIM:608093 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus, Decreased HDL cholesterol concentration |
OMIM:618463 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:615193 |
| Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Neonatal hyperbi... |
OMIM:618892 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
| Refractory Celiac Disease |
|
Normocytic anemia, Hypophosphatemia, Elevated hepatic transaminase, Abnormal spleen physiology, I... |
ORPHA:398063 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice... |
ORPHA:79302 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin, Ascites, Polycystic liver disease |
OMIM:174050 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Hepatic fibrosis, Anemia, Elevated hepatic transaminase, Dilated cardiomyopathy, E... |
OMIM:615895 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Cholecystitis, Cholelithiasis, ... |
OMIM:235700 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... |
OMIM:614480 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Osteoporosis |
OMIM:613606 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Hepatomegaly, Sp... |
OMIM:185000 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Hypoproteinemia, Thrombocytosis, Hepatomegaly, Iron deficiency anemia, Ascites, Intestina... |
OMIM:226300 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Hyperbilirubinem... |
OMIM:616689 |
| Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Pericardial effusion, Hypocalcemia, L... |
ORPHA:90362 |
| Dengue Fever |
|
Leukopenia, Hypoproteinemia, Hepatomegaly, Ascites, Thrombocytopenia |
ORPHA:99828 |
| Immunodeficiency 43 |
|
Reduced natural killer cell count, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta... |
OMIM:241600 |
| Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Cholelithiasis, Splenomegaly, Sp... |
OMIM:182900 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Lymphopenia |
ORPHA:1116 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Splenomegaly, Unconjugated hyperbilirubinemia, Jaundice, Erythroid hyp... |
OMIM:266200 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Hyper... |
OMIM:612526 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia |
OMIM:118830 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat... |
OMIM:615558 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,... |
ORPHA:79303 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbiliru... |
OMIM:269920 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... |
OMIM:601847 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatic failure, Ventricular septal defect, Thyroid lymphangiectasia, Pulmonary lymphangiectasia,... |
OMIM:235255 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice... |
OMIM:617049 |
| Tangier Disease |
|
Chronic noninfectious lymphadenopathy, Anemia, Coronary artery stenosis, Left ventricular hypertr... |
ORPHA:31150 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Sp... |
OMIM:616649 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Cirrhosis, Hepatic failure, Decreased circulating ceruloplasmin concentrati... |
OMIM:616828 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
| Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... |
OMIM:173590 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:616176 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Anemia, Neutropenia, Jaundice, Lymphadenopathy, Increased circulating ferritin co... |
OMIM:603552 |
| Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Hepatosplenomegaly,... |
ORPHA:79237 |
| Johanson-Blizzard Syndrome |
|
Anemia, Abnormality of the pancreas, Abnormal cardiac septum morphology, Diabetes mellitus, Hypop... |
ORPHA:2315 |
| Dubin-Johnson Syndrome |
|
Abnormality of the liver, Jaundice, Biliary tract abnormality, Hepatomegaly, Conjugated hyperbili... |
ORPHA:234 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia |
OMIM:605479 |
| Chédiak-Higashi Syndrome |
|
Pericardial effusion, Iris hypopigmentation, Elevated hepatic transaminase, Hepatosplenomegaly, H... |
ORPHA:167 |
| Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ... |
OMIM:613027 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatic failure, Ventricular septal defect, Pulmonary lymphangiectasia, Hepatosplenomegaly, Pancr... |
ORPHA:1655 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Hemochromatosis, Type 4 |
|
Cirrhosis, Anemia, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis... |
OMIM:606069 |
| Intermediate Osteopetrosis |
|
Increased susceptibility to fractures, Anemia, Osteomyelitis, Recurrent fractures, Generalized os... |
ORPHA:210110 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Recurrent fractures, Increased bone mineral density, Reticulocytosis, Thrombocytopenia, O... |
OMIM:611490 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating cr... |
OMIM:232400 |
| Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
| Tangier Disease |
|
Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased ci... |
OMIM:205400 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Decreased serum bile acid con... |
OMIM:214950 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... |
ORPHA:567983 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Hyperbilirubinem... |
OMIM:614300 |
| Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increase... |
ORPHA:446 |
| Congenital Rubella Syndrome |
|
Anemia, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Jaundice, Type I diabetes mell... |
ORPHA:290 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... |
OMIM:616829 |
| Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... |
ORPHA:98964 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Increased LDL cholesterol conce... |
OMIM:615703 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Hurler-Scheie Syndrome |
|
Abnormal heart valve morphology, Corneal opacity, Hepatomegaly, Abnormality of the tonsils, Splen... |
ORPHA:93476 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... |
OMIM:211600 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal heart morphology, Corneal opacity, Persistent ... |
ORPHA:1067 |
| Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Neonatal insulin-dependent diabetes mellitus, Abnormality of the l... |
ORPHA:1667 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Diabetes mellitus, Hyperammone... |
OMIM:271500 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
| Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... |
OMIM:610202 |
| Pancreatic insufficiency, combined exocrine |
|
Exocrine pancreatic insufficiency, Hypoproteinemia |
OMIM:260450 |
| Cholesteryl Ester Storage Disease |
|
Hepatic failure, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, S... |
ORPHA:75234 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Hypertrophic cardiomyopathy, Developmental cataract, Hepatomegaly |
OMIM:618810 |
| Thrombocytopenia 6 |
|
Thrombocytopenia, Osteoporosis, Myelofibrosis |
OMIM:616937 |
| Dehydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Increased total bilirubin, Increased mean corpuscular hemoglobin concentra... |
ORPHA:3202 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Anemia, Thrombocytopenia |
OMIM:615715 |
| Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Steatorrhea, Elevated circulating phytanic acid concentration, Hepatomegaly |
OMIM:266510 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hypoglycemic seizures, Hyperbilirubinemia, Decreased circulating cortisol level, Cholestasis |
OMIM:609734 |
| Thiel-Behnke Corneal Dystrophy |
|
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... |
ORPHA:98960 |
| Caroli Disease |
|
Biliary cirrhosis, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration,... |
ORPHA:53035 |
| Lcat Deficiency |
|
Hemolytic anemia, Decreased HDL cholesterol concentration, Corneal opacity, Decreased circulating... |
ORPHA:650 |
| Liver Failure, Infantile, Transient |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ja... |
OMIM:613070 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
| Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
| Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... |
ORPHA:288 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Elevated circulating alanine aminotransferase concentration, Posterior embryotoxon, Jaundice, Inc... |
OMIM:614887 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
| Glycogen Storage Disease Ixb |
|
Hyperuricemia, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Splenomegaly |
OMIM:261750 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Neutropenia, Ele... |
ORPHA:158048 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... |
ORPHA:369 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Hepatic failure, Microvesicular hepatic steatosis, Cirrhosis, Jaundice, Hyper... |
OMIM:617156 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, E... |
ORPHA:293964 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Cardiomeg... |
OMIM:608836 |
| Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... |
OMIM:601775 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Ketotic hypoglycemia, Decr... |
ORPHA:324575 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Increased serum iron, Anemia, Elevated transferrin saturation, Eleva... |
OMIM:613313 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... |
OMIM:232800 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... |
OMIM:224120 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Corneal arcus, Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, N... |
OMIM:245900 |
| Caroli Syndrome |
|
Conjunctival icterus, Cholangiocarcinoma, Elevated hepatic transaminase, Hepatomegaly, Abnormalit... |
ORPHA:480520 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Jaundice, Fava bean-induced hemolytic anemia, Reti... |
OMIM:300908 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Hyperalanin... |
OMIM:619048 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
| Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Jaundice, Elevated... |
OMIM:619658 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
| Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Elevated hepatic transaminase, Hyperprolinemia, Decreased liver functi... |
OMIM:616299 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Glycosuria, Jaundice, Elevated hepatic transaminase, Giant cell hepati... |
OMIM:613404 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
| Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... |
OMIM:207750 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Hyperbilirubinemia, Acholic stools, D... |
OMIM:615710 |
| Chylomicron Retention Disease |
|
Increased hepatocellular lipid droplets, Elevated hepatic transaminase, Steatorrhea, Hepatic stea... |
ORPHA:71 |
| Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Elevated circulating alanine aminotransferase concentration, Anemia, N... |
OMIM:611881 |
| Hypermanganesemia With Dystonia 1 |
|
Cirrhosis, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubine... |
OMIM:613280 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration |
OMIM:614025 |
| Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Peritonitis, Elevated hepatic transaminase, Portal inflammation, Hyp... |
OMIM:619991 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Dilated cardiomyopathy, Elevated circula... |
OMIM:600649 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Congenital thrombocytopenia, Radioulnar synostosis, Limited pronation/supination of forea... |
OMIM:616738 |
| Gnathodiaphyseal Dysplasia |
|
Increased susceptibility to fractures, Osteomyelitis, Osteopenia, Diaphyseal cortical sclerosis |
OMIM:166260 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Pigment gal... |
ORPHA:232 |
| Hemochromatosis, Neonatal |
|
Hepatic failure, Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hepatocellular nec... |
OMIM:231100 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Hyperkalemia, Cataract, Nuclear cataract, Hepatomegal... |
OMIM:608885 |
| Abetalipoproteinemia |
|
Hepatic fibrosis, Cirrhosis, Decreased LDL cholesterol concentration, Anemia, Hyperbilirubinemia,... |
ORPHA:14 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Osteomyelitis, Recurrent fractures, Osteopetrosis, Pancytopenia, Hepatosplenomegaly, Decr... |
OMIM:259710 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Elevated hepatic transaminase, Elevated circulating creatine kinase... |
OMIM:617713 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:615285 |
| Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytopenia, Anemia... |
ORPHA:98826 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated h... |
OMIM:255120 |
| Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia, Hepatomegaly, Cardiomyopathy |
ORPHA:35 |
| Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Restrictive cardiomyopathy, Spontane... |
ORPHA:822 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
| Cystic Echinococcosis |
|
Peritoneal abscess, Abnormality of the pancreas, Jaundice, Splenic cyst, Elevated hepatic transam... |
ORPHA:400 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Squalene Synthase Deficiency |
|
Decreased LDL cholesterol concentration, Bicuspid aortic valve, Elevated circulating methylsuccin... |
OMIM:618156 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
| Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Hyperammonemia, Splenomegaly, Hypoglycemia |
ORPHA:664 |
| Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Hyperuricemia, Increased red blood cell coun... |
ORPHA:90041 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... |
OMIM:155100 |
| Mucolipidosis Type Iii |
|
Abnormal aortic valve morphology, Abnormal heart valve morphology, Corneal opacity |
ORPHA:577 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic ste... |
ORPHA:348 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Periportal fibrosis, Conjugated hyperbilirubinemia, Intrahepatic c... |
OMIM:619484 |
| Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a... |
OMIM:615158 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Abnormal cardiac septum morphology |
ORPHA:2370 |
| Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Left ventricular hypertrophy, Corneal opacity, Elevated circulating creatine kinase con... |
OMIM:613153 |
| Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hyperglycinemia, El... |
OMIM:619386 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Increased circulating ferritin concentration, Hemoph... |
OMIM:613101 |
| Sialidosis Type 2 |
|
Ascites, Splenomegaly, Corneal opacity, Hepatomegaly |
ORPHA:87876 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hepatocellular carcinoma, Hepatic steatosis, K... |
OMIM:277900 |
| Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea |
OMIM:217800 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
| Alpha-Mannosidosis |
|
Type II diabetes mellitus, Cataract, Corneal opacity, Hepatomegaly, Splenomegaly |
ORPHA:61 |
| Isolated Biliary Atresia |
|
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Jaundice, Elevated hepatic transaminase, Ach... |
ORPHA:30391 |
| Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentration,... |
OMIM:618838 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Stomatocytosis, Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticu... |
ORPHA:71275 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Insulin resistance, Diabetes mellitus, Hypoglycemia, Hypercholesterolemia |
ORPHA:181393 |
| Pierson Syndrome |
|
Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Uveal ectropi... |
OMIM:609049 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract, Hypoglycemia, Decreased liver function, Thrombocytopenia, Cardio... |
ORPHA:67048 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Elevated hepatic transaminase,... |
ORPHA:98870 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Cataract, Iris coloboma, Posterior embryotoxon |
ORPHA:1473 |
| Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea |
OMIM:217300 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia, Abnormality of iron homeostasis, Elevated hepatic transaminase, Glucose int... |
ORPHA:75563 |
| Potocki-Lupski Syndrome |
|
Hypocholesterolemia, Patent foramen ovale, Atrial septal defect |
OMIM:610883 |
| Autoimmune Hepatitis |
|
Increased total bilirubin, Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepati... |
ORPHA:2137 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Anemia, Reticulocytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, ... |
OMIM:557000 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Thrombocytopenia, Osteoporosis |
OMIM:614727 |
| Wt Limb-Blood Syndrome |
|
Radioulnar synostosis, Pancytopenia, Joint contracture of the 5th finger, Thrombocytopenia, Leuke... |
OMIM:194350 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract |
OMIM:618815 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Myelofibrosis, Impaired collagen-induced platelet aggregation,... |
OMIM:139090 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase... |
OMIM:614886 |
| Hepatocellular Carcinoma |
|
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hyponatremia, Thrombocytopenia, Hemobi... |
ORPHA:88673 |
| Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegaly, Hypercholesterolemia... |
OMIM:278000 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Elevated circulating alanine aminotransferase concentration, Hyperbilirubinemia, Elevated circula... |
OMIM:619685 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice, Conjugated hyperbilirubinemia |
ORPHA:95715 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Intrahepatic biliary atresia, Patent foramen ovale, Ventricular septal defect, Jaundice, Elevated... |
OMIM:208085 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... |
OMIM:144250 |
| Beta-Thalassemia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Reduced bone mine... |
ORPHA:848 |
| Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy... |
OMIM:618963 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... |
OMIM:159550 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Microvesicular hepat... |
OMIM:212140 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:301083 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic syst... |
ORPHA:1414 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hyperlipidemia,... |
ORPHA:79477 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Myelofibrosis, Macrothrombocytopenia, Increase... |
OMIM:187900 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Pancytopenia, Hepatic steatosis, Increased blood urea nitrogen, Hypoglycemia, He... |
OMIM:617872 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Increased serum iron, Glucose intolerance, Elevated hepatic transaminase, Hepatocellul... |
OMIM:235200 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal conjunctiva morphology, Hemolytic anemia, Conjunctival icterus, Neonatal hyperbilirubine... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal conjunctiva morphology, Hemolytic anemia, Conjunctival icterus, Neonatal hyperbilirubine... |
ORPHA:529799 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Macrocytic anemia, T... |
OMIM:300835 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage |
OMIM:601709 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal opacity, Corneal guttata, Corneal stromal edema |
OMIM:613267 |
| Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Cataract, Corneal opacity |
ORPHA:317 |
| Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia, Jaundice, Hemolytic anemia, Stomatocytosis |
OMIM:268150 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
| Idiopathic Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia |
ORPHA:95717 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatic failure, Anemia, Mydriasis, Hyperbilirubinemia, Extramedullary hematopoiesis, Pancytopeni... |
OMIM:259720 |
| Transcobalamin Deficiency |
|
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia |
ORPHA:859 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
| Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Neutrophilia, Elevated hepatic transamin... |
ORPHA:91547 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant ... |
OMIM:231200 |
| Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatic failure, Decreased plasma carnitine, Elevated hepatic transaminase, Elevated plasma branc... |
ORPHA:2394 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Elevated hepatic transaminase, Transient hyperlipidemia, Hypertrophic cardiomyop... |
ORPHA:156 |
| Mucolipidosis Iv |
|
Opacification of the corneal stroma, Corneal opacity, Abnormal abdomen morphology |
OMIM:252650 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Hyperalaninemia, Increased serum pyruvate, Hepatomegaly |
OMIM:266150 |
| Lathosterolosis |
|
Bilobate gallbladder, Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Anisopo... |
OMIM:607330 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... |
OMIM:602347 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Stomatocytosis, Spontaneous hemolytic crises, Zonular cataract, Jaundice, Hepatosplenomegaly, Cat... |
ORPHA:168577 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly |
OMIM:607616 |
| Reynolds Syndrome |
|
Biliary cirrhosis, Calcinosis, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Steat... |
OMIM:613471 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Corneal arcus, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Gamma-Heavy Chain Disease |
|
Anemia, Rheumatoid arthritis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Osteolysi... |
ORPHA:100026 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Abnormality of the pancreas, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Cholecy... |
ORPHA:69665 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... |
ORPHA:293603 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Hyperlipidemia |
ORPHA:364 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Elevated circulating alanine aminotransferase concentration, Impaired gluconeoge... |
OMIM:261680 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hepatosplenomegaly, Lactescent serum, Hyperlipidemia, Hypercholesterolemi... |
OMIM:238600 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Type I diabetes mellitus, Elevated circulating creatine ... |
ORPHA:96180 |
| Primary Biliary Cholangitis |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hepatic failure, Abnormal circulating lipid conce... |
ORPHA:186 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:613986 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin... |
ORPHA:171673 |
| Wilson Disease |
|
Cirrhosis, Anemia, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Thrombo... |
ORPHA:905 |
| Dysbetalipoproteinemia |
|
Corneal arcus, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, Increased LDL cholestero... |
ORPHA:412 |
| Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
| Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia |
ORPHA:95716 |
| Sitosterolemia 1 |
|
Reduced haptoglobin level, Stomatocytosis, Anemia, Corneal arcus, Giant platelets, Reticulocytosi... |
OMIM:210250 |
| Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia, Hypoglycemia |
OMIM:619075 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Osteomyelitis, Calvarial osteosclerosis, Increased bone mineral density, Pancytopenia, Pa... |
OMIM:259700 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Hepatic fibrosis, Pericardial effusion, Elevated hepatic transaminase, Steatorrhe... |
OMIM:212065 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cirrhosis, Granulomatous cholangitis, Sclerosing cholangitis, Interface hepatitis, Elevated hepat... |
ORPHA:562639 |
| Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Elevated circulating alanine aminotransferase concentration, ... |
ORPHA:158061 |
| Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Hypoglycemia, Neonatal hyperb... |
ORPHA:3008 |
| Graft Versus Host Disease |
|
Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Hepatosplenomegaly, Lymphadenopathy,... |
ORPHA:39812 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly |
OMIM:615010 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... |
OMIM:617443 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Brushfield spots, Elevated circulating alanine aminotransferase concentration, Ventricular septal... |
OMIM:614866 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Decreased plasma carnitine, Nonketotic hypoglycemia... |
OMIM:201475 |
| Juvenile Sialidosis Type 2 |
|
Hepatosplenomegaly, Cataract, Corneal opacity, Visceromegaly, Hepatomegaly, Abnormal heart morpho... |
ORPHA:93399 |
| Specific Granule Deficiency 2 |
|
Anemia, Absent neutrophil specific granules, Osteopenia, Thrombocytopenia, Neutropenia |
OMIM:617475 |
| Mirizzi Syndrome |
|
Cholesterol gallstones, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Cholelithias... |
ORPHA:521219 |
| Aggressive Systemic Mastocytosis |
|
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Pathologic fracture, Osteolysis, Osteopo... |
ORPHA:98850 |
| Fructose Intolerance, Hereditary |
|
Cirrhosis, Hyperuricemia, Glycosuria, Jaundice, Hypophosphatemia, Elevated hepatic transaminase, ... |
OMIM:229600 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Neonatal hyperbilirubinemia, Insulin resistance |
ORPHA:73272 |
