Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Jaundice, Hepatic failure, Cirrhosis, Cholestasis, Elevated hep... |
OMIM:617156 |
Nuchal Bleb, Familial |
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Hydrops fetalis, Stillbirth, Fetal cystic hygroma |
OMIM:257350 |
Mitchell-Riley Syndrome |
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Annular pancreas, Malabsorption, Duodenal atresia, Biliary atresia, Intestinal malrotation, Chole... |
OMIM:615710 |
Fetal Cytomegalovirus Syndrome |
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Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Martinez-Frias Syndrome |
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Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... |
OMIM:601346 |
Hemochromatosis, Neonatal |
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Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... |
OMIM:231100 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Increa... |
OMIM:619868 |
Retinohepatoendocrinologic Syndrome |
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Pallor, Optic disc pallor, Degenerative liver disease, Elevated circulating creatine kinase conce... |
OMIM:268040 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver |
OMIM:206100 |
Biliary Atresia, Extrahepatic |
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Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... |
OMIM:210500 |
Alpha-Thalassemia |
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Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Diamond-Blackfan Anemia 19 |
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Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Pentalogy Of Cantrell |
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Congenital diaphragmatic hernia, Cleft palate, Absent gallbladder, Pulmonary hypoplasia, Omphaloc... |
ORPHA:1335 |
Protoporphyria, Erythropoietic, X-Linked |
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Cholelithiasis, Elevated hepatic transaminase, Iron deficiency anemia |
OMIM:300752 |
Fetal Parvovirus Syndrome |
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Hydrops fetalis, Intrauterine growth retardation, Increased nuchal translucency, Ascites |
ORPHA:295 |
Congenital Alveolar Capillary Dysplasia |
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Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Volvulus, Abse... |
ORPHA:210122 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
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Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
Meckel Syndrome, Type 6 |
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Cleft palate, Hepatic cysts, Absent gallbladder, Hepatic fibrosis, Pulmonary hypoplasia, Bilobed ... |
OMIM:612284 |
Nephrotic Syndrome, Type 2 |
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Hyperlipidemia, Hypoalbuminemia, Edema |
OMIM:600995 |
Hb Bart'S Hydrops Fetalis |
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Hepatomegaly, Splenomegaly, Pallor, Preeclampsia, Hydrops fetalis, Polyhydramnios, Oligohydramnios |
ORPHA:163596 |
Transaldolase Deficiency |
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Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Edema, Premature skin wrinkling, Abnormal circula... |
ORPHA:101028 |
Hemoglobin D Disease |
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Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Congenital Lethal Erythroderma |
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Dry skin, Hypoalbuminemia, Death in infancy |
ORPHA:1954 |
Erythrocytosis, Familial, 8 |
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Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Hydrops Fetalis, Nonimmune |
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Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
Nephrotic Syndrome, Type 9 |
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Hypoalbuminemia, Edema |
OMIM:615573 |
Analbuminemia |
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Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypoalbu... |
OMIM:616000 |
Erythroderma, Lethal Congenital |
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Hypoalbuminemia, Death in infancy |
OMIM:227090 |
Transient Erythroblastopenia Of Childhood |
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Anemia, Transient erythroblastopenia |
OMIM:227050 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Pallor, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
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Hyperprolinemia, Nonimmune hydrops fetalis, Neonatal death, Hyperalaninemia, Intrauterine growth ... |
OMIM:619003 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Testicular atrophy, Congenital diaphragmatic hernia, Abnormality of the diaphragm, Intestinal mal... |
OMIM:601163 |
Matthew-Wood Syndrome |
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Annular pancreas, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the pancreas, Abnormal s... |
ORPHA:2470 |
Cardiomyopathy, Familial Restrictive, 6 |
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Hydrops fetalis, Hepatomegaly, Death in infancy, Ascites |
OMIM:619433 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
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Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:613124 |
Congenital Disorder Of Glycosylation, Type Ik |
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Hepatomegaly, Splenomegaly, Nonimmune hydrops fetalis, Death in infancy, Intrauterine growth reta... |
OMIM:608540 |
Microgastria-Limb Reduction Defects Association |
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Gastroesophageal reflux, Intestinal malrotation, Splenogonadal fusion, Biliary tract abnormality,... |
OMIM:156810 |
Lymphatic Malformation 8 |
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Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
Focal Segmental Glomerulosclerosis 1 |
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Hyperlipidemia, Hypoalbuminemia, Edema |
OMIM:603278 |
Pyruvate Kinase Deficiency Of Red Cells |
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Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly, Pallor, Nonimmune hydrops fetalis, Cholecys... |
OMIM:266200 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Glycogen Storage Disease Vii |
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Cholelithiasis, Increased muscle glycogen content, Reduced erythrocyte 2,3-diphosphoglycerate con... |
OMIM:232800 |
Pancreatic Colipase Deficiency |
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Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabso... |
ORPHA:309108 |
Lymphatic Malformation 12 |
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Fetal pericardial effusion, Nonimmune hydrops fetalis, Death in adolescence, Neonatal death, Poly... |
OMIM:620014 |
Hernia, Anterior Diaphragmatic |
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Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
Retinitis Pigmentosa 42 |
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Pallor |
OMIM:612943 |
Developmental And Epileptic Encephalopathy 96 |
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Hydrops fetalis, Death in infancy |
OMIM:619340 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
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Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Isolated Biliary Atresia |
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Decreased liver function, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Cholestasis... |
ORPHA:30391 |
Congenital Disorder Of Glycosylation, Type Ih |
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Decreased liver function, Hepatomegaly, Neonatal death, Cholestasis, Elevated circulating creatin... |
OMIM:608104 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Hyperammonemia, Elevated alpha-fetoprotein, Hepatic failure, Cirrhosis, Nonimmune hydrops fetalis... |
OMIM:617049 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... |
OMIM:613470 |
Focal Segmental Glomerulosclerosis 6 |
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Hypoalbuminemia, Edema |
OMIM:614131 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
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Abnormal neuron branching, Decreased liver function, Hepatomegaly, Hepatic failure, Cirrhosis, He... |
ORPHA:367 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Congenital diaphragmatic hernia, Inguinal hernia, Colon perforation, Biliary atresia, Intestinal ... |
OMIM:600001 |
Congenital Diaphragmatic Hernia |
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Intestinal malrotation, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital dia... |
ORPHA:2140 |
Optic Atrophy 9 |
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Optic atrophy, Pallor |
OMIM:616289 |
Reticuloendotheliosis, X-Linked |
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Anemia, Hepatosplenomegaly, Jaundice |
OMIM:312500 |
Retinitis Pigmentosa 81 |
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Pallor |
OMIM:617871 |
Diffuse Neonatal Hemangiomatosis |
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Hepatomegaly, Hydrops fetalis, Polyhydramnios, Hypercalcemia, Ascites, Premature birth |
ORPHA:2123 |
Peripheral Cone Dystrophy |
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Optic atrophy, Optic disc pallor, Pallor |
OMIM:609021 |
Beta-Thalassemia |
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Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... |
ORPHA:848 |
Autosomal Erythropoietic Protoporphyria |
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Cholelithiasis, Cirrhosis, Microcytic anemia, Decreased liver function |
ORPHA:79278 |
Congenital Analbuminemia |
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Hyperlipidemia, Miscarriage, Facial edema, Hypoproteinemia, Increased alpha-globulin, Pedal edema... |
ORPHA:86816 |
Congenital Enterocyte Heparan Sulfate Deficiency |
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Dehydration, Abnormal circulating polysaccharide concentration, Hypoalbuminemia, Edema, Abnormal ... |
ORPHA:103910 |
Microphthalmia, Syndromic 12 |
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Cryptorchidism, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:615524 |
Dysplastic Cortical Hyperostosis |
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Polyhydramnios, Hydrops fetalis, Hepatomegaly, Splenomegaly |
ORPHA:2204 |
8p23.1 deletion syndrome |
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Cryptorchidism, Congenital diaphragmatic hernia |
DECIPHER:39 |
Dehydrated Hereditary Stomatocytosis |
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Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... |
ORPHA:3202 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Axial Mesodermal Dysplasia Spectrum |
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Anal atresia, Gastroesophageal reflux, Congenital diaphragmatic hernia, Morphological abnormality... |
ORPHA:1834 |
Spherocytosis, Type 1 |
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Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:182900 |
Congenital Atransferrinemia |
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Anemia, Abnormality of the pancreas |
ORPHA:1195 |
Hemoglobin H Disease |
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Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Gallbladder Disease 1 |
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Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... |
OMIM:600803 |
Hereditary Continuous Muscle Fiber Activity |
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Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
Achondrogenesis, Type Ib |
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Hydrops fetalis, Polyhydramnios, Edema, Stillbirth, Breech presentation |
OMIM:600972 |
Chondrodysplasia, Blomstrand Type |
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Polyhydramnios, Hydrops fetalis, Stillbirth, Premature birth |
OMIM:215045 |
Cyanosis, Transient Neonatal |
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Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Glycogen Storage Disease Iv |
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Hepatic failure, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Edema, Portal hy... |
OMIM:232500 |
Fetal Gaucher Disease |
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Hepatomegaly, Splenomegaly, Hydrops fetalis, Abnormality of the spleen, Neonatal death, Death in ... |
ORPHA:85212 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Glycogen Storage Disease Xii |
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Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Splenomegaly, Increased variabilit... |
OMIM:611881 |
Infantile Sialic Acid Storage Disease |
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Hepatomegaly, Splenomegaly, Death in childhood, Hydrops fetalis, Conjugated hyperbilirubinemia, A... |
OMIM:269920 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... |
OMIM:194380 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Increased circulating ferritin concentration, Splenomegaly, Hydrops fetalis, Unconjugated hyperbi... |
ORPHA:766 |
Nephrotic Syndrome, Type 6 |
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Hypoalbuminemia, Edema |
OMIM:614196 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Erythroleukemia, Familial, Susceptibility To |
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Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hemolytic anemia, Hepatic failure |
OMIM:177000 |
Benign Recurrent Intrahepatic Cholestasis |
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Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... |
ORPHA:65682 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubinemia, Hepatic failur... |
OMIM:251880 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:2141 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Elevated circulating creatine kinase concentration, Nonimmune hydrops f... |
OMIM:618835 |
Congenital Enterovirus Infection |
|
Hyperammonemia, Hepatic failure, Hydrops fetalis, Cholestasis, Polyhydramnios, Pericardial effusi... |
ORPHA:292 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Hypoparathyroidism, Decreased liver function, Anemia of inadequate production, He... |
ORPHA:231222 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased liver function, Elevated circulating creatine kinase concentration, Nonimmune hydrops f... |
OMIM:618839 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Hyperbilirubinemia, P... |
ORPHA:64743 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Pallor, Hepatomegaly, Splenomegaly |
OMIM:615234 |
Retinitis Pigmentosa 70 |
|
Pallor, Optic disc pallor |
OMIM:615922 |
Mpi-Cdg |
|
Decreased liver function, Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Edema, Portal hyperten... |
ORPHA:79319 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... |
ORPHA:288 |
Neuronal Intestinal Pseudoobstruction |
|
Malabsorption, Congenital diaphragmatic hernia |
ORPHA:99811 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Fat malabsorption, Jaundice, Intrahepatic ... |
OMIM:211600 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic failure, Cirrhosis, Death in childhood, Hepatic fibrosis, Hypoalbuminemia, ... |
OMIM:602579 |
Indomethacin Embryofetopathy |
|
Oligohydramnios, Hydrops fetalis, Premature birth |
ORPHA:1909 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia, Edema |
OMIM:610725 |
Auditory Neuropathy And Optic Atrophy |
|
Optic atrophy, Pallor |
OMIM:617717 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Emphysema |
ORPHA:171719 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Pallor, Elevated hepatic transaminase, Hypoalbuminemia, Skin ulcer |
ORPHA:507 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Intestinal malrotation, Abnormality of the pancreas, Pulmonary... |
ORPHA:3032 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbuminemia, Oligohy... |
OMIM:619013 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Periportal fibrosis, Abnormal lung lobation... |
OMIM:263210 |
Hydrops Fetalis |
|
Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Twin-to-twin transfusion, Lymphedema, Inc... |
ORPHA:1041 |
Fibronectin Glomerulopathy |
|
Pedal edema, Hypoalbuminemia |
ORPHA:84090 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cryptorchidism, Abnormality of the pulmonary artery, Congenital diaphragmatic hernia, Cleft palate |
ORPHA:1166 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu... |
OMIM:618805 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Hyperbilirubinemia, Microvesicular hepatic steatosis, Acute hepatic failure, Macrov... |
OMIM:613070 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Exocrine pancreatic insufficiency, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bi... |
ORPHA:2255 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Anal atresia, Cleft palate, Esophageal diverticulum, Neonatal death, Hamartoma of tongue, Absent ... |
OMIM:617925 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Edema, Hypoalbuminemia, Hypoproteinemia |
OMIM:600351 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia |
ORPHA:261102 |
Dextrocardia |
|
Intestinal malrotation, Abnormality of the spleen, Abnormal lung lobation, Pancreatic hypoplasia,... |
ORPHA:1666 |
Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas |
ORPHA:438274 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Elevated hepatic transaminase, Pallor, Splenomegaly |
ORPHA:75563 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Emphysema |
OMIM:614100 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Hiatus hernia, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic... |
OMIM:610199 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Steatorrhea |
OMIM:615935 |
Retinitis Pigmentosa 27 |
|
Pallor, Macular edema |
OMIM:613750 |
Alg8-Cdg |
|
Cutis laxa, Premature skin wrinkling, Oligohydramnios, Hydrops fetalis, Optic atrophy, Elevated h... |
ORPHA:79325 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hydrops fetalis, Fetal akinesia sequence, Death in infancy |
OMIM:618815 |
Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites |
ORPHA:87876 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... |
ORPHA:822 |
Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Hepatomegaly, Splenomegaly, Hydrops fetalis, Pleural effusion, Ascites |
ORPHA:2414 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Cryptorchidism, Cleft palate, Absent gallbladder, Anemia, Thrombocytopenia |
ORPHA:163979 |
Pericardial And Diaphragmatic Defect |
|
Pulmonary sequestration, Congenital diaphragmatic hernia, Morphological abnormality of the gastro... |
ORPHA:2847 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia, Edema |
OMIM:615244 |
Tonne-Kalscheuer Syndrome |
|
Velopharyngeal insufficiency, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Decreased te... |
OMIM:300978 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Aplastic anemia, Macrocytic anemia,... |
ORPHA:811 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Splenomegaly, Normocytic anemia, Cholecystitis, Macrocytic anemia, Hemolytic anem... |
OMIM:615512 |
1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Cleft palate, Hyposegmentation of neutrophil nuclei, Pulmonary h... |
ORPHA:250999 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Skin ulcer, Ascites |
ORPHA:834 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
High palate, Pancreatic aplasia, Absent gallbladder |
ORPHA:556955 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating methionine concentration... |
ORPHA:88618 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Trisomy 10P |
|
Flexion contracture of thumb, High palate, Gastroesophageal reflux, Camptodactyly, Absent gallbla... |
ORPHA:171929 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Anemia |
ORPHA:100025 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Cholelithiasis, Camptodactyly of finger, Giant cell hepatitis, Jaundice |
OMIM:214980 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... |
ORPHA:53035 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Decreased HDL ... |
ORPHA:247585 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Distal Trisomy 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Hernia |
ORPHA:96097 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Anal atresia, Narrow palate, Cryptorchidism, Congenital diaphragmatic hernia, Inguinal hernia, Ab... |
ORPHA:2063 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor, Splenomegaly |
ORPHA:228312 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiom... |
OMIM:603903 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Jaundice, Hypoalbuminemia, Abnormality of the liver |
ORPHA:79320 |
Vacterl/Vater Association |
|
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Tracheoesophageal fistula, Abnormali... |
ORPHA:887 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Optic Atrophy 1 |
|
Optic atrophy, Pallor |
OMIM:165500 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic... |
OMIM:602347 |
Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele |
OMIM:613630 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Schisis Association |
|
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Tracheoesophageal fistula, Omphalocele |
ORPHA:63862 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Abnormal pulmonary interstitial morphology, T... |
OMIM:607616 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia |
OMIM:246700 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Hepatic failure, Orthostatic hypotension, Cirrhosis, He... |
ORPHA:186 |
8P Inverted Duplication/Deletion Syndrome |
|
High, narrow palate, Aplasia/Hypoplasia of the gallbladder, Small hypothenar eminence, Contractur... |
ORPHA:96092 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Granulocytopenia, Congenital diaphragmatic hernia, Cleft palate, Bifid uvula, Macrocytic anemia |
OMIM:606164 |
Trisomy 8P |
|
Annular pancreas, Multiple joint contractures, Peripheral pulmonary artery stenosis, Cleft palate... |
ORPHA:264450 |
Acrocallosal Syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia, Inguinal hernia |
ORPHA:36 |
Isolated Anencephaly |
|
Thymus hyperplasia, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:563609 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hydrops fetalis, Neonatal death |
OMIM:276822 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Cleft palate, Abnormality of the gallbladder, Abnormality of mes... |
ORPHA:2075 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Hepatosplenomegaly, Hepatic steatosis, Dry skin, Optic atrophy, Elevated hepatic tr... |
OMIM:619487 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... |
ORPHA:247598 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor, Abnormal upper motor neuron morphology |
OMIM:606353 |
Xp22.13P22.2 Duplication Syndrome |
|
High palate, Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Umbil... |
ORPHA:284180 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Increased LDL choles... |
OMIM:267700 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Cholelithiasis, Hepatomegaly, Jaundice, Intrahepatic cholestasis |
OMIM:605479 |
Trimethylaminuria |
|
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly |
OMIM:602079 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Facial palsy, Anemia, Thrombocytopenia |
OMIM:615085 |
Serkal Syndrome |
|
Malrotation of small bowel, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:139466 |
Non-Syndromic Posterior Hypospadias |
|
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Omphalocele, Cryptorchidism, Esophag... |
ORPHA:95706 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Hypoproteinemia, Hypoalbuminemia, Edema, Generalized edema, Ascites |
OMIM:226300 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, Intrauterine growt... |
OMIM:618838 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami... |
ORPHA:567983 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
Diamond-Blackfan Anemia 10 |
|
Steroid-responsive anemia, Congenital diaphragmatic hernia, Cleft palate, Morgagni diaphragmatic ... |
OMIM:613309 |
Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice, Myopathy |
ORPHA:33574 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Gastrointestinal carcinoma, S... |
ORPHA:2869 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia |
OMIM:613313 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypoalbuminemia, Per... |
ORPHA:567548 |
Donnai-Barrow Syndrome |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Umbilical hernia, Omphalocele |
ORPHA:2143 |
Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hyperbilirubinemia, Hyperammonemia, Acute hepati... |
ORPHA:1667 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Periorbital edema, Hypoalbuminemia, Edema |
ORPHA:656 |
Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia, Umbilical hernia |
ORPHA:380 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Ulcerative colitis |
OMIM:619398 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease... |
ORPHA:540 |
Achondrogenesis |
|
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis |
ORPHA:932 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Anemia, Reduced subcutaneous adipose tissue |
OMIM:609069 |
Zttk Syndrome |
|
High palate, Intestinal atresia, Flexion contracture, Bifid uvula, Unilateral lung agenesis, Abse... |
OMIM:617140 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Mitochondrial Trifunctional Protein Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated circulating creatine k... |
OMIM:609015 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Steinfeld Syndrome |
|
Absent gallbladder, Median cleft lip and palate, Bifid uvula |
OMIM:184705 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Increased C-peptide level, Pallor, Maternal d... |
ORPHA:276580 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent upper respiratory tract in... |
OMIM:613101 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Cleft palate |
OMIM:300712 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Joint contracture of the hand, Aplasia/Hypoplasi... |
ORPHA:456312 |
Idiopathic Neonatal Atrial Flutter |
|
Hydrops fetalis, Maternal diabetes, Fetal distress |
ORPHA:45452 |
Leber Congenital Amaurosis 14 |
|
Pallor, Optic disc pallor |
OMIM:613341 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Elevated ci... |
ORPHA:158061 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor, Increased C-peptide level, Maternal diabetes, Decreased circulating free fa... |
ORPHA:324575 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion |
OMIM:617300 |
Nephrotic Syndrome, Type 1 |
|
Edema, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Lowry-Maclean Syndrome |
|
Congenital diaphragmatic hernia, Cleft palate, Inguinal hernia, Abnormality of the abdominal orga... |
ORPHA:2409 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic atrophy, Optic disc pallor, Pallor |
OMIM:612989 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Increased C-peptide level, Pallor, Focal panc... |
ORPHA:276575 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Increased C-peptide level, Pallor, Decreased ... |
ORPHA:276556 |
Achondrogenesis, Type Ii |
|
Polyhydramnios, Hydrops fetalis, Stillbirth, Edema |
OMIM:200610 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Hepatic failur... |
OMIM:308240 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Hepato... |
OMIM:603553 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Peritoneal effusion, Hypoproteinemia, Hypoalbuminemia, Edema, Pleur... |
ORPHA:90362 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis |
ORPHA:93298 |
Mulibrey Nanism |
|
Hydrops fetalis, Intrauterine growth retardation, Hepatomegaly, Ascites |
OMIM:253250 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Emanuel Syndrome |
|
High palate, Anal atresia, Gastroesophageal reflux, Congenital diaphragmatic hernia, Inguinal her... |
OMIM:609029 |
Galloway-Mowat Syndrome 6 |
|
Intrauterine growth retardation, Hypoalbuminemia |
OMIM:618347 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice |
OMIM:603552 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
Irida Syndrome |
|
Pallor, Intrahepatic cholestasis, Decreased circulating copper concentration |
ORPHA:209981 |
Minicore Myopathy With External Ophthalmoplegia |
|
Polyhydramnios, Facial palsy, Hydrops fetalis, Decreased fetal movement |
OMIM:255320 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, S... |
OMIM:612714 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis |
ORPHA:93299 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema |
OMIM:603165 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Cirrhosis, Elevated hepatic transaminase, Hypoalbuminemia, Decreased circulating copper concentra... |
OMIM:242150 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Tetrasomy 9P |
|
High palate, Cleft palate, Biliary atresia, Myositis, Bifid uvula, Amelogenesis imperfecta, Absen... |
ORPHA:3310 |
Neuraminidase Deficiency |
|
Facial edema, Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites |
OMIM:256550 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
High palate, Anal atresia, Congenital diaphragmatic hernia, Intestinal malrotation, Camptodactyly... |
OMIM:617602 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... |
ORPHA:171 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Hematochezia, Rhabdomyolysis, El... |
ORPHA:79095 |
Eosinophilic Gastroenteritis |
|
Ascites, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Edema |
ORPHA:2070 |
Campomelia, Cumming Type |
|
Hepatomegaly, Hydrops fetalis, Abnormality of the pancreas, Lymphedema, Death in infancy, Oligohy... |
ORPHA:1318 |
15Q24 Microdeletion Syndrome |
|
Anal atresia, Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation t... |
ORPHA:94065 |
Boomerang Dysplasia |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:1263 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Hydrops fetalis, Single umbilical artery |
ORPHA:3405 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Polyhydramnios, Hypoalbuminemia, Hyponatremia... |
OMIM:618183 |
Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
Perlman Syndrome |
|
Congenital diaphragmatic hernia, Distal ileal atresia, Hypoplasia of the abdominal wall musculatu... |
OMIM:267000 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Pallor, Edema, Periorbital edema, Aganglionic megacolon |
ORPHA:3386 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Cebalid Syndrome |
|
High palate, Congenital diaphragmatic hernia |
OMIM:618774 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:166300 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Alg1-Cdg |
|
Decreased liver function, Hypoalbuminemia |
ORPHA:79327 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Death in childhood, Nonimmune hydrops fetalis, Elevated hepatic transaminase, Hypoc... |
OMIM:212065 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Hypoalbuminemia, Splenomegaly |
OMIM:209950 |
Mu-Heavy Chain Disease |
|
Anemia, Hepatomegaly, Abnormal B cell count, Splenomegaly |
ORPHA:100024 |
Craniofrontonasal Dysplasia |
|
High palate, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1520 |
Avian Influenza |
|
Miscarriage, Elevated circulating C-reactive protein concentration, Elevated circulating creatine... |
ORPHA:454836 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Mody |
|
Pancreatic hypoplasia, Elevated hemoglobin A1c, Exocrine pancreatic insufficiency, Hepatocellular... |
ORPHA:552 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Histiocytosis, Flexion contracture of finger, Hepatomegaly, Decreased response to growth hormone ... |
OMIM:602782 |
Al Amyloidosis |
|
Autonomic erectile dysfunction, Hepatomegaly, Abnormal autonomic nervous system physiology, Incre... |
ORPHA:85443 |
Fryns Syndrome |
|
High palate, Ectopic anus, Anal atresia, Duodenal atresia, Gastroesophageal reflux, Congenital di... |
ORPHA:2059 |
Wilson Disease |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Ped... |
OMIM:277900 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Gastroesophageal reflux, Cirrhosis, Usual interstitial pneumonia, Aplastic anemia, Myeloid leukem... |
OMIM:614742 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Omphalocele |
ORPHA:3186 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
13Q12.3 Microdeletion Syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia, Recurrent respiratory infections, Camptodactyly |
ORPHA:412035 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Congenital diaphragmatic hernia, Multilobulated spleen, Inguinal h... |
OMIM:601186 |
Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic transaminase, Anemia, He... |
OMIM:615438 |
Emanuel Syndrome |
|
High palate, Multiple joint contractures, Anal atresia, Ectopic anus, Gastroesophageal reflux, Co... |
ORPHA:96170 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Anteriorly placed anus, Congenital diaphragmatic hernia, Umbilical hernia |
ORPHA:1488 |
Xfe Progeroid Syndrome |
|
Death in adolescence, Dry skin, Optic atrophy, Elevated hepatic transaminase, Hypoalbuminemia, As... |
OMIM:610965 |
Leigh Syndrome With Nephrotic Syndrome |
|
Generalized edema, Oligohydramnios, Intrauterine growth retardation, Hypoalbuminemia |
ORPHA:255249 |
Long Qt Syndrome 3 |
|
Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:603830 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Splenomegaly, Anemia, Hepatosplenomegaly, Reticulocytosis, Facial palsy, Thrombocyt... |
OMIM:611490 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Gaucher Disease, Perinatal Lethal |
|
Petechiae, Hepatomegaly, Hepatic failure, Splenomegaly, Hepatosplenomegaly, Nonimmune hydrops fet... |
OMIM:608013 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c... |
ORPHA:79302 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Dysphagia, Facial diplegia |
OMIM:160900 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites |
ORPHA:69735 |
Mullegama-Klein-Martinez Syndrome |
|
Congenital diaphragmatic hernia, Cleft palate |
OMIM:301022 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Hepatomegaly, Inguinal hernia, Cleft palate, Contracture of the distal interphala... |
ORPHA:83617 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Abnormal circulating protein concentration, Pedal ede... |
ORPHA:86839 |
Wolman Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Steatorrhea, Esophageal varix, Anemia, Bone-marrow f... |
ORPHA:75233 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
Klippel-Trénaunay Syndrome |
|
Hydrops fetalis, Ascites, Hepatomegaly, Edema |
ORPHA:90308 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
Chromosome 15Q25 Deletion Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia, Cleft palate, Macrocytic anemia, Cryptorchidism... |
OMIM:614294 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:260370 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia |
OMIM:208920 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor, Hepatomegaly, Jaundice |
OMIM:613839 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Intestinal malrotation, Cirrhosis, Pancreatic fibrosis, Hyperechogeni... |
OMIM:208540 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Hypoalbuminemia, Edema |
OMIM:617575 |
Pearson Marrow-Pancreas Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Pallor, Pan... |
OMIM:557000 |
Ppoma |
|
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone ... |
ORPHA:97278 |
Mosaic Trisomy 1 |
|
Congenital diaphragmatic hernia, Cleft palate, Camptodactyly of finger, Pulmonary artery atresia,... |
ORPHA:1692 |
Sialuria |
|
Cholelithiasis, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Elevated hepatic transaminase |
ORPHA:3166 |
Ménétrier Disease |
|
Peripheral edema, Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the extraocular muscles, Atrophic muscularis propria, Gastroesophageal reflux, Sma... |
ORPHA:298 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Facial edema, Palpebral edema, Pedal edema, Hypoalbuminemia, Edema, Pleural effus... |
ORPHA:567546 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Anomalous pulmonary venous return, Congenital diaphragmatic hernia, Inguinal hernia, Cleft palate... |
ORPHA:2311 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in childhood, Elevated circulating creatine kinase concentration, Death in adolescence, Neo... |
OMIM:619055 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... |
OMIM:265300 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Congenital diaphragmatic hernia, Supernumerary nipple, Cleft palate, Pulmonary hypop... |
OMIM:612530 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p... |
OMIM:301082 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Abnormal spleen physiology, Elev... |
ORPHA:398063 |
Grfoma |
|
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone ... |
ORPHA:97261 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Cleft palate, Bilateral lung agenesis, Pulmonary hypoplasia, Pul... |
OMIM:611812 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hyperammonemia, Pallor, Death in childhood, Decreased plasma carnitine, Hyperuricemia |
OMIM:246450 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Recurrent bronchitis, Anemia, Thrombocytopenia |
OMIM:131400 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Anemia, Hepatic steatosis, Hepatomegaly |
OMIM:606069 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly, Cirrhosis, Cholestasis, Abnormality of the... |
OMIM:222470 |
Intellectual Disability-Strabismus Syndrome |
|
High palate, Recurrent gastroenteritis, Gastroesophageal reflux, Joint contracture of the hand, C... |
ORPHA:363528 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... |
ORPHA:44890 |
Trisomy 1Q |
|
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Camptodactyly of finger, Omphalocele... |
ORPHA:261344 |
Czeizel-Losonci Syndrome |
|
High palate, Tracheoesophageal fistula, Aplasia of the left hemidiaphragm, Hypoplastic nipples, P... |
ORPHA:2437 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites, Intrauterine growth retardation, Sing... |
OMIM:616897 |
Liver Disease, Severe Congenital |
|
Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic fai... |
OMIM:619991 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Recurrent aspiration pneumonia, Dysphagia, Anemia, Thrombocytopenia |
OMIM:230900 |
Lymphatic Malformation 1 |
|
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis |
OMIM:153100 |
Nephronophthisis 19 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation |
OMIM:616217 |
Hepatocellular Carcinoma |
|
Abnormality of the hepatic vasculature, Hypokalemia, Hepatomegaly, Hyperbilirubinemia, Hemobilia,... |
ORPHA:88673 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potentials, Prolonged neonatal jaundice,... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potentials, Prolonged neonatal jaundice,... |
ORPHA:529808 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Schistocytosis, Hemoly... |
OMIM:224120 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Hepatomegaly |
ORPHA:28 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cholelithiasis, High palate, Lower limb hypertonia, Flexion contracture, Recurrent upper respirat... |
OMIM:300534 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs, Anomalous pulmonary venous return, Congenital diaphragmatic hern... |
ORPHA:1120 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Death in infancy, Intrauterine growth retardation |
OMIM:230500 |
Cronkhite-Canada Syndrome |
|
Malabsorption, Hepatomegaly, Stomach cancer, Splenomegaly, Furrowed tongue, Intestinal polyposis,... |
ORPHA:2930 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Cirrhosis, Chylous ascites, Decreased prealbumin l... |
ORPHA:90363 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Gastroesophageal reflux, Cleft palate, Submucous cleft soft palate, Bifid uvula, Unilateral lung ... |
ORPHA:500150 |
Focal Dermal Hypoplasia |
|
Diastasis recti, Abnormality of the pulmonary vasculature, Duodenal atresia, Gastroesophageal ref... |
ORPHA:2092 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, High, narrow palate, Inguinal hernia, Femoral hernia,... |
ORPHA:2849 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Hepatic failure, Splenomegaly, Hepatosplenomegaly, Hepatocellular ... |
ORPHA:158057 |
Myoclonus, Intractable, Neonatal |
|
Pallor |
OMIM:617235 |
Amoebiasis Due To Entamoeba Histolytica |
|
Pleural empyema, Elevated hepatic transaminase, Hypoalbuminemia, Pleural effusion, Liver abscess |
ORPHA:67 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormality of the pancreas, Elevated hepatic transaminase, Abnormal lung morpholog... |
ORPHA:54251 |
Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Intestinal malrotation, Diaphragmatic eventration, Umbilical her... |
OMIM:222448 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Peritonitis, Elevated circulating creatine kinase concentration, Hepatitis, Elevate... |
ORPHA:36234 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ileus, Hepatomegaly, Ovarian neoplasm, Neoplasm of the lung, Testicular... |
ORPHA:83469 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, Macrovesicular hepatic steatosis, Optic atrophy, Elevated hepatic trans... |
OMIM:618329 |
Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Hepatic failure, Cirrhosis, Cholecystitis, Microcytic anemia, Intestinal polyposi... |
ORPHA:774 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Proximal muscle weakness in lower limbs, Cirrhosis, Acute hepatic fai... |
ORPHA:905 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Desquama... |
OMIM:615952 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Increased total bilirubin, Splenomegaly |
ORPHA:90037 |
Isolated Sedoheptulokinase Deficiency |
|
Diastasis recti, Cholestatic liver disease, Flexion contracture, Inguinal hernia, Steatorrhea, Ch... |
ORPHA:440713 |
Proximal 16P11.2 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:370079 |
Lymphatic Malformation 6 |
|
Facial edema, Chylothorax, Genital edema, Splenomegaly, Nonimmune hydrops fetalis, Polyhydramnios... |
OMIM:616843 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Arterial Tortuosity Syndrome |
|
High palate, Hiatus hernia, Congenital diaphragmatic hernia, Inguinal hernia, Flexion contracture... |
OMIM:208050 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Death in childhood, Macrovesicular hepatic steatosis, Optic atrophy, ... |
OMIM:617303 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Thrombocytopenia, Normochromic anemia |
OMIM:618775 |
Trisomy 13 |
|
Optic atrophy, Hydrops fetalis, Intrauterine growth retardation |
ORPHA:3378 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Intussusception, Volvulus, Iron deficiency anemia, Rectal prolapse, Thromboc... |
OMIM:112200 |
Tetraamelia Syndrome 1 |
|
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Pulmonary hypoplasia, Peripheral pul... |
OMIM:273395 |
Cystic Fibrosis |
|
Exocrine pancreatic insufficiency, Malabsorption, Hepatomegaly, Pulmonary fibrosis, Recurrent res... |
ORPHA:586 |
Acro-Renal-Mandibular Syndrome |
|
High palate, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the tongue, Tracheoesophageal... |
ORPHA:958 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Cirrhosis, Elevated hepatic transaminase, Neutropenia, Anemia |
OMIM:604250 |
Budd-Chiari Syndrome |
|
Malabsorption, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecy... |
ORPHA:131 |
Mirizzi Syndrome |
|
Cholelithiasis, Pancreatitis, Jaundice, Elevated hepatic transaminase, Cholesterol gallstones, Ga... |
ORPHA:521219 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Meacham Syndrome |
|
Pulmonary sequestration, Anomalous pulmonary venous return, Congenital diaphragmatic hernia, Abno... |
ORPHA:3097 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Cirrhosis, Sclerosing cholangitis, Elevated circulating aspartate aminotransferase ... |
OMIM:619662 |
Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, I... |
OMIM:265000 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... |
ORPHA:64753 |
Beckwith-Wiedemann Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Cleft palate, Enlarged kidney, U... |
ORPHA:116 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Hydrocele testis, High palate, Anal atresia, Gastroesophageal reflux, Congenital diaphragmatic he... |
OMIM:614080 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Nonimmune hydrops fetalis, Hypertriglyceridemia, Hy... |
OMIM:619313 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Aplasia of the left hemidiaphragm |
OMIM:618238 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
2Q37 Microdeletion Syndrome |
|
Pyloric stenosis, Congenital diaphragmatic hernia, Supernumerary nipple, Umbilical hernia |
ORPHA:1001 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Congenital diaphragmatic hernia, Inguinal hernia, Umbilical hernia, Emphysema, Recurrent respirat... |
OMIM:219100 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Hypoparathyroidism, Malabsorption, Chronic active hepatitis, Enamel hypoplasia, A... |
OMIM:240300 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Pallor |
ORPHA:49827 |
Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Decreased liver function, High palate, Hepatomegaly, Gastroesophageal reflux, Mac... |
OMIM:618268 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
OMIM:601927 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Hepatomegaly, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia |
ORPHA:27 |
Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Corneal scarring, Joint contracture of the hand, Splenomegaly, Hemolytic anemia, ... |
OMIM:263700 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
High palate, Congenital diaphragmatic hernia |
OMIM:619699 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Hydrops fetalis, Hepatitis, Lymphedema, Ascites |
ORPHA:584 |
Evans Syndrome |
|
Pallor, Petechiae, Jaundice |
ORPHA:1959 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hydrops fetalis, Premature birth, Polyhydramnios, Hyponatremia, Edema, Fetal polyuri... |
OMIM:602522 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Increased circulating ferritin concentration, Pallor |
OMIM:600462 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Splenomegaly, Pallor, Unconjugated hy... |
OMIM:300908 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Congenital alveolar dysplasia, Scimitar anom... |
OMIM:608978 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Decreased transferrin saturation, Pallor, Hepatospl... |
ORPHA:300298 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Congenital diaphragmatic hernia, Inguinal hernia, Supernumerary nipple, Cleft palate, Umbilical h... |
OMIM:618454 |
Elliptocytosis 1 |
|
Pallor, Jaundice, Splenomegaly |
OMIM:611804 |
Myelofibrosis |
|
Pallor, Purpura, Splenomegaly |
OMIM:254450 |
Pagod Syndrome |
|
Congenital diaphragmatic hernia, Abnormality of the spleen, Pulmonary artery hypoplasia, Pulmonar... |
ORPHA:991 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Dysphagi... |
ORPHA:100026 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor, Lymphedema, Hepatomegaly, Splenomegaly |
ORPHA:3226 |
Coach Syndrome 3 |
|
Portal fibrosis, Anemia |
OMIM:619113 |
Lethal Congenital Contracture Syndrome 10 |
|
Oligohydramnios, Hydrops fetalis, Intrauterine growth retardation, Fetal akinesia sequence |
OMIM:617022 |
Primary Myelofibrosis |
|
Petechiae, Hepatomegaly, Splenomegaly, Pallor, Hepatosplenomegaly, Purpura, Ecchymosis, Portal hy... |
ORPHA:824 |
Alg12-Cdg |
|
Redundant skin, Polyhydramnios, Hypocholesterolemia, Elevated hepatic transaminase, Hypoalbuminem... |
ORPHA:79324 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Incr... |
OMIM:226670 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hepatomegaly, Abnormal circulating fatty-acid concentration, Increased ... |
ORPHA:263455 |
Metachromatic Leukodystrophy |
|
Abnormal gallbladder morphology, Hemobilia, Abnormal stomach morphology, Intussusception, Abnorma... |
ORPHA:512 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Pancreatitis, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:289916 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia |
OMIM:612840 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pallor |
OMIM:608423 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis |
OMIM:607823 |
Cold Agglutinin Disease |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor, Hepatosplenomegaly, Hypokalemia |
OMIM:611590 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Cornelia De Lange Syndrome 1 |
|
High palate, Malrotation of colon, Hiatus hernia, Congenital diaphragmatic hernia, Inguinal herni... |
OMIM:122470 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... |
ORPHA:209902 |
Sepsis In Premature Infants |
|
Decreased liver function, Petechiae, Elevated circulating C-reactive protein concentration, Hepat... |
ORPHA:90051 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia, Increased muscle glycogen content, Skeletal muscle atrophy |
ORPHA:371 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia |
ORPHA:1647 |
8P23.1 Microdeletion Syndrome |
|
High palate, Cryptorchidism, Congenital diaphragmatic hernia, Pulmonary artery stenosis |
ORPHA:251071 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice |
OMIM:185000 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:79312 |
Halperin-Birk Syndrome |
|
High palate, Gastroesophageal reflux, Congenital diaphragmatic hernia, Inguinal hernia, Flexion c... |
OMIM:618651 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Hyperbilirubinemia, Pallor, Elevated hepatic transaminase, Increased serum iron, Increased total ... |
ORPHA:98870 |
Zaki Syndrome |
|
High palate, Congenital diaphragmatic hernia |
OMIM:619648 |
Duodenal Atresia |
|
Annular pancreas, Duodenal atresia, Abnormality of the pulmonary artery, Abnormality of the pancreas |
ORPHA:1203 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis |
OMIM:616738 |
Cimdag Syndrome |
|
Cholelithiasis, Lipodystrophy, Microvesicular hepatic steatosis, Hepatomegaly |
OMIM:619273 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Pyloric stenosis, Gastroesophageal reflux, Congenital diaphragmatic hernia, Cleft palate |
ORPHA:261197 |
Fetal Alcohol Syndrome |
|
Congenital diaphragmatic hernia, Cleft palate |
ORPHA:1915 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Enlarged... |
OMIM:200995 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Cleft palate, Ventral hernia, Pulmonary hypoplasia, Omphalocele |
OMIM:313850 |
Opitz Gbbb Syndrome |
|
High palate, Anal atresia, Ectopic anus, Congenital diaphragmatic hernia, Inguinal hernia, Cleft ... |
ORPHA:2745 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Hepatoblastoma, Supernumerary nipple, Splenomegaly, Congenital diaphragmatic hernia... |
ORPHA:373 |
Galloway-Mowat Syndrome 3 |
|
Oligohydramnios, Intrauterine growth retardation, Hypoalbuminemia, Edema |
OMIM:617729 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... |
OMIM:613027 |
Thakker-Donnai Syndrome |
|
Tracheoesophageal fistula, Anal atresia, Congenital diaphragmatic hernia, Rectovaginal fistula |
ORPHA:1780 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Pylor... |
ORPHA:93111 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:85166 |
Achondrogenesis, Type Ia |
|
Hydrops fetalis, Absence of stomach bubble on fetal sonography, Polyhydramnios, Stillbirth, Incre... |
OMIM:200600 |
Farber Disease |
|
Joint swelling, Hepatic failure, Hepatosplenomegaly, Hydrops fetalis, Elevated hepatic transamina... |
ORPHA:333 |
Abetalipoproteinemia |
|
Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubinemia, Cirrhosis, D... |
ORPHA:14 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor, Cerebral edema |
ORPHA:439218 |
Greenberg Dysplasia |
|
Echogenic fetal bowel, Hepatomegaly, Hepatic calcification, Hepatosplenomegaly, Hydrops fetalis, ... |
OMIM:215140 |
Mosaic Trisomy 9 |
|
Abnormal liver lobulation, Hydrops fetalis, Polyhydramnios, Oligohydramnios, Intrauterine growth ... |
ORPHA:99776 |
Alveolar Echinococcosis |
|
Decreased liver function, Pulmonary cyst, Abnormal skeletal muscle morphology, Abnormality of the... |
ORPHA:284 |
White-Sutton Syndrome |
|
High palate, Gastroesophageal reflux, Congenital diaphragmatic hernia, Cleft palate, Bifid uvula,... |
OMIM:616364 |
Non-Functioning Paraganglioma |
|
Pallor, Cranial nerve compression, Hypercalcemia |
ORPHA:94080 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Increased sarcoplasmic glycogen, Abnormal erythrocyte enzy... |
ORPHA:264580 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Scimitar anomaly, Intestinal malrotation, Accessory spleen, Unil... |
OMIM:618280 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Hepatomegaly, Hepatic failure, Splenomegaly, Aplastic anemia, Hemolytic anemia, Elev... |
ORPHA:398124 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Malabsorption, Lymphopenia, Inguinal hernia, Abnormality of the pancreas, Anemia, Aganglionic meg... |
ORPHA:935 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-... |
OMIM:613011 |
Gm1 Gangliosidosis |
|
Splenomegaly, Hepatosplenomegaly, Hydrops fetalis, Optic atrophy, Premature birth |
ORPHA:354 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Decreased liver function, Hypocalcemia, Cirrhosis, Oligohydramnios, Hepatic steatosis, Cholestasi... |
OMIM:613658 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hydrops fetalis, Hepatic fibrosis, Ascites |
OMIM:614091 |
Caroli Syndrome |
|
Melena, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Hepatic failure, Esophageal varix, Jaundi... |
ORPHA:480520 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Trisomy 18 |
|
Anal atresia, Narrow palate, Congenital diaphragmatic hernia, Cleft palate, Camptodactyly of fing... |
ORPHA:3380 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor, Mildly elevated creatine kinase |
ORPHA:536516 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Seckel Syndrome 9 |
|
Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Recurrent respiratory infections |
OMIM:616777 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Neonatal death, Hepatic cysts, Enlarged kidney, ... |
OMIM:263200 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Increased placental thickness, Miscarriage, Single umbilical artery, Hydrops fetalis |
ORPHA:1865 |
Fumarase Deficiency |
|
Hyperbilirubinemia, Hepatic failure, Pallor, Cholestasis, Optic atrophy |
OMIM:606812 |
Holoprosencephaly |
|
Gastroesophageal reflux, Congenital diaphragmatic hernia, Intestinal atresia, Panhypopituitarism,... |
ORPHA:2162 |
Senior-Loken Syndrome 8 |
|
Pallor, Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts |
OMIM:616307 |
Peutz-Jeghers Syndrome |
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Neoplasm of the pancreas, Intestinal bleeding, Multiple gastric polyps, Intussusception, Ovarian ... |
OMIM:175200 |
Fructose-1,6-Bisphosphatase Deficiency |
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Hepatomegaly, Pallor, Elevated hepatic transaminase, Hyperuricemia, Neonatal hyperbilirubinemia, ... |
ORPHA:348 |
Craniorachischisis |
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Anal atresia, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:63260 |
Schneckenbecken Dysplasia |
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Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth |
OMIM:269250 |
Lathosterolosis |
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High palate, Hepatosplenomegaly, Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Increased m... |
OMIM:607330 |
Spherocytosis, Type 2 |
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Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:616649 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Lymphedema, Hypoalbuminemia, Pleural effusion, Periorbital edema, Pericardial effusion |
OMIM:235510 |
Interstitial Lung And Liver Disease |
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Hepatomegaly, Hepatic failure, Cirrhosis, Elevated circulating aspartate aminotransferase concent... |
OMIM:615486 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Recurrent gastroenteritis, Hepatomegaly, Recurrent respiratory infections, Hepatosplenomegaly, Pu... |
ORPHA:79124 |
Fryns Syndrome |
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Anal atresia, Duodenal atresia, Joint contracture of the hand, Chylothorax, Cleft palate, Intesti... |
OMIM:229850 |
Felty Syndrome |
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Hepatomegaly, Cellulitis, Splenomegaly, Abnormal lymphocyte morphology, Pleuritis, Recurrent phar... |
ORPHA:47612 |
Aggressive Systemic Mastocytosis |
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Decreased liver function, Malabsorption, Neutropenia, Abnormal mast cell morphology, Leukocytosis... |
ORPHA:98850 |
White-Sutton Syndrome |
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High palate, Gastroesophageal reflux, Congenital diaphragmatic hernia, Inguinal hernia, Abnormali... |
ORPHA:468678 |
Retinitis Pigmentosa 51 |
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Pallor |
OMIM:613464 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
X-Linked Agammaglobulinemia |
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Malabsorption, Cellulitis, Glossoptosis, Hepatitis, Recurrent pneumonia, Neutropenia, Abnormal lu... |
ORPHA:47 |
Anemia, Sideroblastic, 5 |
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Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Pearson Syndrome |
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Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Exocrine pancreatic insufficiency, H... |
ORPHA:699 |
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