| Nuchal Bleb, Familial |
|
Stillbirth, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Death in infancy, Intrauterine growth retardation, Ascites, Cir... |
OMIM:617156 |
| Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Malabsorption, Intesti... |
OMIM:615710 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
| Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Intestinal malrotation, Jejunal atresi... |
OMIM:601346 |
| Hemochromatosis, Neonatal |
|
Increased serum iron, Abnormality of iron homeostasis, Nonimmune hydrops fetalis, Intrauterine gr... |
OMIM:231100 |
| Retinohepatoendocrinologic Syndrome |
|
Elevated circulating creatine kinase concentration, Optic disc pallor, Degenerative liver disease... |
OMIM:268040 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... |
OMIM:210500 |
| Alpha-Thalassemia |
|
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Jaundice |
OMIM:224100 |
| Pentalogy Of Cantrell |
|
Omphalocele, Cleft palate, Congenital diaphragmatic hernia, Absent gallbladder, Pulmonary hypopla... |
ORPHA:1335 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Iron deficiency anemia, Cholelithiasis, Elevated hepatic transaminase |
OMIM:300752 |
| Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hydrops fetalis, Intrauterine growth retardation, Ascites |
ORPHA:295 |
| Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Duodenal stenosis, Asplenia, Annular pancreas, Volvulus, Intestinal malrot... |
ORPHA:210122 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:226735 |
| Nephrotic Syndrome, Type 2 |
|
Edema, Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Preeclampsia, Polyhydramnios, Splenomegaly, Oligohydramnios, Pallor, Hydrops fetalis |
ORPHA:163596 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Omphalocele, Congenital diaphragmatic hernia, Intestinal malrotation, Abnorma... |
OMIM:601163 |
| Matthew-Wood Syndrome |
|
Duodenal stenosis, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Congenital diaphragmatic... |
ORPHA:2470 |
| Congenital Lethal Erythroderma |
|
Dry skin, Death in infancy, Hypoalbuminemia |
ORPHA:1954 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Edema, H... |
OMIM:616000 |
| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Erythroderma, Lethal Congenital |
|
Death in infancy, Hypoalbuminemia |
OMIM:227090 |
| Hydrops Fetalis, Nonimmune |
|
Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
| Nephrotic Syndrome, Type 9 |
|
Edema, Hypoalbuminemia |
OMIM:615573 |
| Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
| Transaldolase Deficiency |
|
Abnormal circulating glutamine concentration, Edema, Cirrhosis, Hepatosplenomegaly, Increased ser... |
ORPHA:101028 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Pallor, Splenomegaly |
ORPHA:46532 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:613124 |
| Glycogen Storage Disease Xii |
|
Myopathy, Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic he... |
OMIM:611881 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Nonimmune hydrops fetalis, Redundant neck skin, Intrauterine growth retardation, Neonatal death, ... |
OMIM:619003 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... |
OMIM:618773 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Death in infancy, Nonimmune hydrops fetalis, Intrauterine growth retardation, Splen... |
OMIM:608540 |
| Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Cholelithiasis, Reticulocytosis, Reduced erythrocyte 2,3-dipho... |
OMIM:232800 |
| Focal Segmental Glomerulosclerosis 1 |
|
Edema, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Microgastria-Limb Reduction Defects Association |
|
Microgastria, Aganglionic megacolon, Asplenia, Abnormal lung lobation, Splenogonadal fusion, Inte... |
OMIM:156810 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Death in infancy, Hepatomegaly, Hydrops fetalis, Ascites |
OMIM:619433 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:235700 |
| Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
| Developmental And Epileptic Encephalopathy 96 |
|
Death in infancy, Hydrops fetalis |
OMIM:619340 |
| Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
| Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Cholelithiasis, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabso... |
ORPHA:309108 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Hyperbilirubinemia, Hydrops fetalis, Splenomegaly |
OMIM:613673 |
| Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... |
ORPHA:30391 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Death in infancy, Nonimmune hydrops fetalis, Ascites, Hyperammonemia, Cirrhosis, Elevated circula... |
OMIM:617049 |
| Congenital Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Intes... |
ORPHA:2140 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... |
OMIM:613470 |
| Focal Segmental Glomerulosclerosis 6 |
|
Edema, Hypoalbuminemia |
OMIM:614131 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Colon perforation, Pancreatic hypoplasia, Congenital diaphragmatic hernia, Aplasia of the left he... |
OMIM:600001 |
| Optic Atrophy 9 |
|
Optic atrophy, Pallor |
OMIM:616289 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Anemia, Jaundice |
OMIM:312500 |
| Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia, Hepatomegaly, Ascites, Premature birth, Polyhydramnios, Hydrops fetalis |
ORPHA:2123 |
| Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Nonimmune hydrops fetalis, Ascites, Fetal akinesia sequence, Polyhydramnios, Cirrho... |
ORPHA:367 |
| Peripheral Cone Dystrophy |
|
Optic atrophy, Pallor, Optic disc pallor |
OMIM:609021 |
| Beta-Thalassemia |
|
Hepatomegaly, Hepatitis, Abnormal hemoglobin, Cholelithiasis, Anemia, Splenomegaly, Microcytic an... |
ORPHA:848 |
| Autosomal Erythropoietic Protoporphyria |
|
Cirrhosis, Decreased liver function, Microcytic anemia, Cholelithiasis |
ORPHA:79278 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Edema, Abnormal circulating protein concentrat... |
ORPHA:103910 |
| Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia, Cryptorchidism, Pulmonary hypoplasia |
OMIM:615524 |
| Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Hydrops fetalis, Polyhydramnios, Splenomegaly |
ORPHA:2204 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism |
DECIPHER:39 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the spleen, Omphalocele, Aplasia/Hypoplasia of the lungs, Abnormal intestine morph... |
ORPHA:1834 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Intrauterine growth retardation, Ascites, Decreased fetal movement, Decreased liver... |
OMIM:608104 |
| Sickle Cell Anemia |
|
Abnormality of the spleen, Leukocytosis, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice |
OMIM:182900 |
| Achondrogenesis, Type Ib |
|
Edema, Stillbirth, Polyhydramnios, Breech presentation, Hydrops fetalis |
OMIM:600972 |
| Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
| Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Chondrodysplasia, Blomstrand Type |
|
Premature birth, Stillbirth, Hydrops fetalis, Polyhydramnios |
OMIM:215045 |
| Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Cleft palate, Congenital diaphragmatic hernia, Cryptorchidism, Inguinal hernia |
OMIM:614294 |
| Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas |
ORPHA:1195 |
| Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
| Cyanosis, Transient Neonatal |
|
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
| Opitz Gbbb Syndrome, Type Ii |
|
Dysphagia, Cleft palate, High palate, Inguinal hernia, Bifid uvula, Absent gallbladder, Anal atre... |
OMIM:145410 |
| Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Ascites, Premature birth, Splenomegaly, Conjugated hyperbilirubinemia, Death in chi... |
OMIM:269920 |
| Glycogen Storage Disease Iv |
|
Ascites, Edema, Decreased fetal movement, Polyhydramnios, Cirrhosis, Hepatosplenomegaly, Hepatic ... |
OMIM:232500 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Hepatomegaly, Death in infancy, Fetal akinesia sequence, Neonatal deat... |
ORPHA:85212 |
| Nephrotic Syndrome, Type 6 |
|
Edema, Hypoalbuminemia |
OMIM:614196 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Splenomeg... |
ORPHA:766 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... |
OMIM:194380 |
| Triosephosphate Isomerase Deficiency |
|
Myopathy, Skeletal muscle atrophy, Normocytic anemia, Normochromic anemia, Cholelithiasis, Spleno... |
OMIM:615512 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Nonimmune hydrops fetalis, Intrauterine growth retardation, Unconjugated hyperbilirubinemia, Chol... |
OMIM:266200 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
| Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Cholelithiasis, Hepatic failure |
OMIM:177000 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Omphalocele |
ORPHA:2141 |
| Congenital Enterovirus Infection |
|
Fetal ascites, Fetal distress, Pericardial effusion, Premature birth, Decreased fetal movement, H... |
ORPHA:292 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Acholic stools, Hepatocellular carcinoma, Pancreatitis, Cholelithiasis, Cholestatic liver disease... |
ORPHA:65682 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod... |
OMIM:251880 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Death in infancy, Nonimmune hydrops fetalis, Intrauterine growth retardation, Elevated circulatin... |
OMIM:618835 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Nonimmune hydrops fetalis, Intrauterine growth retardation, Elevated circulatin... |
OMIM:618839 |
| Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hypoparathyroidism, Leukocytosis, Elevated hepatic iron concentration, Hepatocellul... |
ORPHA:231222 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Hepatoportal Sclerosis |
|
Ascites, Hepatocellular carcinoma, Hyperbilirubinemia, Nodular regenerative hyperplasia of liver,... |
ORPHA:64743 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Premature birth, Edema, Spontaneous abortion, Facial edema, Hype... |
ORPHA:86816 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Pallor, Hepatomegaly, Splenomegaly |
OMIM:615234 |
| Hereditary Elliptocytosis |
|
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Elliptocytosis, Poikil... |
ORPHA:288 |
| Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia, Malabsorption |
ORPHA:99811 |
| Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Edema, Decreased liver function, Hypoalbuminemia, Portal hyperten... |
ORPHA:79319 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti... |
OMIM:237800 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Pallor |
OMIM:615922 |
| Nephrotic Syndrome, Type 3 |
|
Edema, Hypoalbuminemia |
OMIM:610725 |
| Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Hypoalbuminemia, Elevated hepatic transaminase, Pallor, Skin ulcer |
ORPHA:507 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatic steatosis, Hepatosplenomegaly, Oligohydramnios, Hypertriglyceridemia, Hypoalbuminemia, El... |
OMIM:619013 |
| Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Emphysema, Flexion contracture |
ORPHA:171719 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... |
OMIM:615631 |
| Auditory Neuropathy And Optic Atrophy |
|
Optic atrophy, Pallor |
OMIM:617717 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Congenital unilateral pulmonary hypoplasia |
|
Congenital diaphragmatic hernia, Abnormality of the pulmonary artery, Aplasia/Hypoplasia of the l... |
ORPHA:2258 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... |
OMIM:211600 |
| Fibronectin Glomerulopathy |
|
Pedal edema, Hypoalbuminemia |
ORPHA:84090 |
| Indomethacin Embryofetopathy |
|
Premature birth, Oligohydramnios, Hydrops fetalis |
ORPHA:1909 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Abnormal lung lobation, Congenital diaphragmatic hernia, Flexion contracture, Pulmon... |
OMIM:263210 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc... |
OMIM:618805 |
| Gallbladder Disease 1 |
|
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... |
OMIM:600803 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cleft palate, Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of the pulmonary artery |
ORPHA:1166 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, ... |
ORPHA:3032 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Cleft palate, Hamartoma of tongue, Neonatal death, Absent gallbladder, Anal atresia, Esophageal d... |
OMIM:617925 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia, Neonatal death |
OMIM:273680 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Edema, Hypoalbuminemia |
OMIM:600351 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pancreatic hypoplasia, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the gallbladder, Pu... |
ORPHA:2255 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Emphysema |
OMIM:614100 |
| Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology |
ORPHA:438274 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic failure, Hypoalbuminemia |
OMIM:602579 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Abnormality of iron homeostasis, Pallor, Splenomegaly |
ORPHA:75563 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:261102 |
| Dextrocardia |
|
Abnormality of the spleen, Abnormal pulmonary situs morphology, Meckel diverticulum, Pancreatic h... |
ORPHA:1666 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... |
OMIM:610199 |
| Alg8-Cdg |
|
Hyponatremia, Optic atrophy, Cutis laxa, Intrauterine growth retardation, Ascites, Premature birt... |
ORPHA:79325 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Death in infancy, Hydrops fetalis, Fetal akinesia sequence |
OMIM:618815 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormality of the small intestine, Anemia, Malabsorption, Splenomegaly, Premature ... |
ORPHA:100025 |
| Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Steatorrhea |
OMIM:615935 |
| Nephrotic Syndrome, Type 8 |
|
Edema, Hypoalbuminemia |
OMIM:615244 |
| Sialidosis Type 2 |
|
Hepatomegaly, Ascites, Splenomegaly, Pedal edema, Hydrops fetalis |
ORPHA:87876 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Extramedullary hematopoiesis, Increased mean ... |
ORPHA:822 |
| Retinitis Pigmentosa 27 |
|
Pallor, Macular edema |
OMIM:613750 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Cleft palate, Anemia, Absent gallbladder, Thrombocytopenia, Cryptorchidism |
ORPHA:163979 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... |
OMIM:616860 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Morphological abnormality of the gastrointestinal tract, Congenital diaphrag... |
ORPHA:2847 |
| Tonne-Kalscheuer Syndrome |
|
Dysphagia, Congenital diaphragmatic hernia, Velopharyngeal insufficiency, Cryptorchidism, Pulmona... |
OMIM:300978 |
| Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Elevated hepatic transaminase, Biliary tract obstruction, ... |
ORPHA:69663 |
| Shwachman-Diamond Syndrome |
|
Pancreatic hypoplasia, Neutropenia, Leukemia, Steatorrhea, Pancytopenia, Acute myeloid leukemia, ... |
ORPHA:811 |
| 1Q41Q42 Microdeletion Syndrome |
|
Cleft palate, Congenital diaphragmatic hernia, Hyposegmentation of neutrophil nuclei, Cryptorchid... |
ORPHA:250999 |
| Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Hepatomegaly, Ascites, Splenomegaly, Pleural effusion, Hydrops fetalis |
ORPHA:2414 |
| Trisomy 10P |
|
Decreased muscle mass, Dysphagia, High palate, Rectovaginal fistula, Flexion contracture of thumb... |
ORPHA:171929 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Congenital diaphragmatic hernia, Anal at... |
ORPHA:2063 |
| Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Giant cell hepatitis, Cholelithiasis, Camptodactyly of finger, Jaundice |
OMIM:214980 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hyperhomocystinemia, Hepatocellular carcinoma, Elevated circulating creatine kinase concentration... |
ORPHA:88618 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Citrullinemia Type Ii |
|
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... |
ORPHA:247585 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Distal Trisomy 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Hernia, Cryptorchidism |
ORPHA:96097 |
| Vacterl/Vater Association |
|
Omphalocele, Aplasia/Hypoplasia of the lungs, Abnormality of the gallbladder, Cleft palate, Conge... |
ORPHA:887 |
| Caroli Disease |
|
Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarcinoma, Hepatic fibrosis, Esophageal varix, ... |
ORPHA:53035 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Pancreatic aplasia, High palate, Absent gallbladder |
ORPHA:556955 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor, Splenomegaly |
ORPHA:228312 |
| Hyperbiliverdinemia |
|
Decreased liver function, Cholelithiasis, Cholestasis |
OMIM:614156 |
| Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Jaundice, Abnormality of the liver, Hypoalbuminemia |
ORPHA:79320 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate |
OMIM:612530 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Schisis Association |
|
Omphalocele, Cleft palate, Congenital diaphragmatic hernia, Anal atresia, Tracheoesophageal fistula |
ORPHA:63862 |
| Genitopalatocardiac Syndrome |
|
Cleft palate, Abnormality of the gallbladder, Abnormality of mesentery morphology, Congenital dia... |
ORPHA:2075 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Optic Atrophy 1 |
|
Optic atrophy, Pallor |
OMIM:165500 |
| Isolated Anencephaly |
|
Congenital diaphragmatic hernia, Thymus hyperplasia, Omphalocele |
ORPHA:563609 |
| Primary Biliary Cholangitis |
|
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Ascites, Hepatocellular carcinoma, A... |
ORPHA:186 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase, Bile duct proliferation, Malabsorpt... |
OMIM:602347 |
| 8P Inverted Duplication/Deletion Syndrome |
|
High, narrow palate, Aplasia/Hypoplasia of the gallbladder, Contractures of the large joints, Cry... |
ORPHA:96092 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis |
OMIM:276822 |
| Chylomicron Retention Disease |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia |
OMIM:246700 |
| Trisomy 8P |
|
Cleft palate, Peripheral pulmonary artery stenosis, Annular pancreas, Abnormal lung lobation, Apl... |
ORPHA:264450 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Jau... |
ORPHA:247598 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased L... |
OMIM:267700 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Twin-to-twin transfusion, Spontaneous a... |
ORPHA:1041 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
| Acrocallosal Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Inguinal hernia |
ORPHA:36 |
| Sickle Cell Anemia |
|
Hepatomegaly, Leukocytosis, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli... |
OMIM:603903 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, High palate, Congenital diaphragmatic hernia, Polycystic ovaries, Recurrent upper... |
ORPHA:284180 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hepatomegaly, Ascites, Edema, Hypoalbuminemia, Generalized edema |
OMIM:226300 |
| Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Cleft palate, Congenital diaphragmatic hernia, Esophageal atresia, Anal atresia, Cry... |
ORPHA:95706 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Optic atrophy, Intrauterine growth retardation, Pericardial effusion, Ascites, Hepa... |
OMIM:619487 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Premature birth, Nonimmune hydrops fetalis, I... |
OMIM:618838 |
| Serkal Syndrome |
|
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Malrotation of small bowel |
ORPHA:139466 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Anemia, Facial palsy, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
| Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly |
OMIM:602079 |
| Glutamate-Cysteine Ligase Deficiency |
|
Myopathy, Hepatosplenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice |
ORPHA:33574 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Congenital diaphragmatic hernia, Granulocytopenia, Macrocytic anemia |
OMIM:606164 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Abnormal circulating lipid concentration, Edema, Hypercholesterolemia, Hypertriglyce... |
ORPHA:567548 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasi... |
ORPHA:567983 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Edema, Periorbital edema, Peritonitis, Hypoalbuminemia |
ORPHA:656 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase |
OMIM:613313 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia |
OMIM:608898 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the lung, Abnormality of the gallbladder, Rectal prolapse, Stomach cancer, Gastrointe... |
ORPHA:2869 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Jaundice |
OMIM:605479 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Increased circulating ferritin c... |
ORPHA:158061 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor, Abnormal upper motor neuron morphology |
OMIM:606353 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia, Ulcerative colitis |
OMIM:619398 |
| Achondrogenesis |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:932 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Intestinal malrotation, Umbilical hernia, Omphalocele |
ORPHA:2143 |
| Steinfeld Syndrome |
|
Median cleft lip and palate, Bifid uvula, Absent gallbladder |
OMIM:184705 |
| Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia, Umbilical hernia |
ORPHA:380 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Ecchymosis, Hepatomegaly, Petechiae, Splenomegaly, Decreased liver function, Increased circulatin... |
ORPHA:540 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Elevated circulating creatine kinase concentration, Hyperammonemia, Elevated circulating acylcarn... |
OMIM:609015 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Ascites, Hyperbilirubinemia, Hyperammonemia, Abnormality of the liver... |
ORPHA:1667 |
| Zttk Syndrome |
|
High palate, Bifid uvula, Absent gallbladder, Unilateral lung agenesis, Flexion contracture, Inte... |
OMIM:617140 |
| Pancreatic And Cerebellar Agenesis |
|
Anemia, Pancreatic hypoplasia, Reduced subcutaneous adipose tissue |
OMIM:609069 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Splenomegaly, Hepatosplenomegaly, Recurrent upper respiratory tract infections, Abnormal ... |
OMIM:613101 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Idiopathic Neonatal Atrial Flutter |
|
Hydrops fetalis, Maternal diabetes, Fetal distress |
ORPHA:45452 |
| Craniofacioskeletal Syndrome |
|
Cryptorchidism, Cleft palate, Absent gallbladder |
OMIM:300712 |
| Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia |
OMIM:260370 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Edema, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Diffuse pancreatic islet hyperplasia, Increased C-peptide level,... |
ORPHA:276580 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Pulmonary edema, Lymphedema |
OMIM:617300 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Hepatomegaly, Edema, Increased total bilirubin, Splenomegaly, Incr... |
OMIM:603553 |
| Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Maternal diabetes, Decreased circulating free fatty acid level, Increased C-peptide... |
ORPHA:324575 |
| Lowry-Maclean Syndrome |
|
Pyloric stenosis, High, narrow palate, Abnormality of the abdominal organs, Cleft palate, Midgut ... |
ORPHA:2409 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypoproteinemia, Pericardial effusion, Ascites, Edema, Hypocalcemia, Hypomagnese... |
ORPHA:90362 |
| Free Sialic Acid Storage Disease |
|
Hepatomegaly, Ascites, Splenomegaly, Skin ulcer, Hydrops fetalis |
ORPHA:834 |
| Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Pallor |
OMIM:613341 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Prolonged neonatal jaundice, Hydrops fetalis, Splenomegaly |
OMIM:224120 |
| Achondrogenesis, Type Ii |
|
Edema, Hydrops fetalis, Stillbirth, Polyhydramnios |
OMIM:200610 |
| Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93298 |
| Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Cleft palate, Congenital diaphragmatic hernia, Anemia, Reticulocytopenia |
OMIM:613309 |
| Emanuel Syndrome |
|
Cleft palate, High palate, Congenital diaphragmatic hernia, Anal atresia, Recurrent respiratory i... |
OMIM:609029 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Focal pancreatic islet hyperplasia, Diffuse pancreatic islet hyperplasia, Decreased... |
ORPHA:276575 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Contractures involving the joints of the feet, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, ... |
ORPHA:456312 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Decreased circulating free fatty acid level, ... |
ORPHA:276556 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Jaundice |
OMIM:603552 |
| Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93299 |
| Mulibrey Nanism |
|
Hepatomegaly, Ascites, Intrauterine growth retardation, Hydrops fetalis |
OMIM:253250 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic atrophy, Pallor, Optic disc pallor |
OMIM:612989 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Irida Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration, Pallor |
ORPHA:209981 |
| Minicore Myopathy With External Ophthalmoplegia |
|
Decreased fetal movement, Facial palsy, Hydrops fetalis, Polyhydramnios |
OMIM:255320 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Pericardial effusion, Ascites, Anasarca, Polyhydramnios, Hypocalcemia, Hypomagnesem... |
OMIM:618183 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
High palate, Congenital diaphragmatic hernia, Pneumothorax, Intestinal malrotation, Anal atresia,... |
OMIM:617602 |
| Boomerang Dysplasia |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:1263 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia, Splenomegaly, Steatorrhea, Anemia of inadequate production, Exocrine pancre... |
OMIM:612714 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Perlman Syndrome |
|
Congenital diaphragmatic hernia, Volvulus, Distal ileal atresia, Pancreatic islet-cell hyperplasi... |
OMIM:267000 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Eosinophilic Gastroenteritis |
|
Edema, Elevated circulating C-reactive protein concentration, Ascites, Hypoalbuminemia |
ORPHA:2070 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Death in infancy, Pancreatic cysts, Abnormality of the pancreas, Oligohydramnios, H... |
ORPHA:1318 |
| Tetrasomy 9P |
|
Cleft palate, High palate, Myositis, Median cleft lip and palate, Abnormal dental enamel morpholo... |
ORPHA:3310 |
| Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Generalized amyotrophy, Splenomegaly,... |
ORPHA:171 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease, Elevated hepatic transaminase, R... |
ORPHA:79095 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Hydrops fetalis |
OMIM:618052 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Ascites, Facial edema, Splenomegaly, Hydrops fetalis |
OMIM:256550 |
| 13Q12.3 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Recurrent respiratory infections, Camptodactyly |
ORPHA:412035 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Single umbilical artery, Hydrops fetalis, Polyhydramnios |
ORPHA:3405 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Absent gallbladder |
ORPHA:3186 |
| Cebalid Syndrome |
|
Congenital diaphragmatic hernia, High palate |
OMIM:618774 |
| American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Edema, Splenomegaly, Pallor, Periorbital edema |
ORPHA:3386 |
| Immunodeficiency 27A |
|
Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia |
OMIM:209950 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly |
ORPHA:100024 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
| Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Inguinal hernia, Diaphragmatic eventration, Multilobulated splee... |
OMIM:601186 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
| Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Intrauterine growth retardation, Oligohydramnios, Generalized edema, Hypoalbuminemia |
ORPHA:255249 |
| Emanuel Syndrome |
|
Dysphagia, Cleft palate, High palate, Ectopic anus, Congenital diaphragmatic hernia, Bifid uvula,... |
ORPHA:96170 |
| Cooper-Jabs Syndrome |
|
Congenital diaphragmatic hernia, Umbilical hernia, Camptodactyly of finger, Anteriorly placed anus |
ORPHA:1488 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Nonimmune hydrops fetalis, Pericardial effusion, Hepatic fibrosis, Hypocholesterole... |
OMIM:212065 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Pancytopenia, Anemia, Cirrhosis, Reticular pattern on pulmonary HRCT, Pulmonary fibrosis, Myeloid... |
OMIM:614742 |
| Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Pancreatic hypoplasia, Flexion contracture of toe, Retroperitoneal fibrosis, Cardio... |
OMIM:602782 |
| Fryns Syndrome |
|
Omphalocele, Cleft palate, High palate, Duodenal atresia, Aganglionic megacolon, Ectopic anus, Co... |
ORPHA:2059 |
| Alg1-Cdg |
|
Decreased liver function, Hypoalbuminemia |
ORPHA:79327 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Anemia, Facial palsy, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocyt... |
OMIM:611490 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Nonimmune hydrops fetalis, Intrauterine growth retardation, Ascites, Petechiae, Pre... |
OMIM:608013 |
| Craniofrontonasal Dysplasia |
|
Congenital diaphragmatic hernia, High palate, Camptodactyly of finger |
ORPHA:1520 |
| Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Macrocytic anemia, Anemia, Hepatic steatosis, Acute hepatic failure, Elevated hepat... |
OMIM:615438 |
| Mullegama-Klein-Martinez Syndrome |
|
Congenital diaphragmatic hernia, Cleft palate |
OMIM:301022 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
| 15Q24 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Hernia, Anal atresia, Cryptorchidism, Decreased response to grow... |
ORPHA:94065 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pyloric stenosis, Hepatomegaly, B lymphocytopenia, Cleft palate, Pancreatic hypoplasia, Cholelith... |
ORPHA:83617 |
| Al Amyloidosis |
|
Hepatomegaly, Xerostomia, Abnormality of the liver, Increased circulating NT-proBNP concentration... |
ORPHA:85443 |
| Myotonic Dystrophy 1 |
|
Facial diplegia, Dysphagia, Testicular atrophy, Cholelithiasis |
OMIM:160900 |
| Mosaic Trisomy 1 |
|
Omphalocele, Cleft palate, Congenital diaphragmatic hernia, Hepatic agenesis, Camptodactyly of fi... |
ORPHA:1692 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:79302 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Anemic pallor, Pedal edema, Abnormal circulating albu... |
ORPHA:86839 |
| Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Edema, Ascites, Hydrops fetalis |
ORPHA:90308 |
| Nephrotic Syndrome, Type 14 |
|
Edema, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Cleft palate, Congenital diaphragmatic hernia, Adrenal gland agenesis, Pulmonary artery stenosis,... |
OMIM:611812 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Intrauterine growth retardation, Elevated circulating creatine kinase concentra... |
OMIM:619055 |
| Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Hepatomegaly, Abnormality of iron homeostasis, Intrauterine growth retardat... |
OMIM:222470 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Ascites, Hyperlipidemia, Edema, Anasarca, Facial edema, Palpebral edema, Hypoalbuminemia, Pedal e... |
ORPHA:567546 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Ascites, Palpebral edema, Pleural effusion, Hydrops fetalis, Predominantly lower limb lymphedema |
ORPHA:69735 |
| Wolman Disease |
|
Hepatomegaly, Esophageal varix, Bone-marrow foam cells, Anemia, Splenomegaly, Steatorrhea, Hepati... |
ORPHA:75233 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Dysphagia, Ragged-red muscle fibers, Gastrointestinal dysmotility, Anemia,... |
ORPHA:298 |
| Ménétrier Disease |
|
Hypoproteinemia, Peripheral edema, Hypoalbuminemia |
ORPHA:2494 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Intestinal malrotation, Diaphragmatic eventration, ... |
OMIM:222448 |
| Lysosomal Acid Lipase Deficiency |
|
Esophageal varix, Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steato... |
OMIM:278000 |
| Ppoma |
|
Hepatomegaly, Neoplasm of the pancreas, Cholelithiasis, Neoplasm of the small intestine, Increase... |
ORPHA:97278 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pallor, Jaundice |
OMIM:613839 |
| Mody |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Elevated hemoglobin A1c, Hepatocellular... |
ORPHA:552 |
| Eosinophilia, Familial |
|
Leukocytosis, Recurrent bronchitis, Anemia, Thrombocytopenia, Eosinophilia |
OMIM:131400 |
| Refractory Celiac Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Abnormal spleen physiology, H... |
ORPHA:398063 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Nonimmune hydrops fetalis, Ascites, Edema, Facial edema, Polyhydramnios, Palpebral edema, Pedal e... |
OMIM:265300 |
| Grfoma |
|
Hepatomegaly, Pheochromocytoma, Neoplasm of the lung, Zollinger-Ellison syndrome, Neoplasm of the... |
ORPHA:97261 |
| Gastrointestinal Stromal Tumor |
|
Dysphagia, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neoplasm of the rectum, Neopla... |
ORPHA:44890 |
| Hemochromatosis, Type 4 |
|
Cirrhosis, Hepatomegaly, Anemia, Hepatic steatosis |
OMIM:606069 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hyperammonemia, Hyperuricemia, Death in childhood, Decreased plasma carnitine, Pallor |
OMIM:246450 |
| Sialuria |
|
Hepatomegaly, High, narrow palate, Cholelithiasis, Hepatosplenomegaly, Elevated hepatic transaminase |
ORPHA:3166 |
| Hepatocellular Carcinoma |
|
Hypercalcemia, Hyponatremia, Hepatomegaly, Ascites, Hypokalemia, Hemobilia, Anasarca, Hepatic nec... |
ORPHA:88673 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia,... |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia,... |
ORPHA:529808 |
| Czeizel-Losonci Syndrome |
|
High palate, Hypoplastic nipples, Aplasia of the left hemidiaphragm, Tracheoesophageal fistula, P... |
ORPHA:2437 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Cleft palate, Congenital diaphragmatic hernia, Inguinal hernia, Camptodactyly of finger, Anomalou... |
ORPHA:2311 |
| Avian Influenza |
|
Elevated circulating creatine kinase concentration, Hepatitis, Spontaneous abortion, Hypoalbumine... |
ORPHA:454836 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:208920 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Intrauterine growth retardation, Ascites, Polyhydramnios, Single umbilical artery, Pleural effusi... |
OMIM:616897 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Dysphagia, Recurrent aspiration pneumonia, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:230900 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Anemia |
ORPHA:28 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
High palate, Facial hypotonia, Cholelithiasis, Furrowed tongue, Distal lower limb amyotrophy, Rec... |
OMIM:300534 |
| African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, E... |
ORPHA:90363 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis |
OMIM:616217 |
| Cronkhite-Canada Syndrome |
|
Hepatomegaly, Stomach cancer, Gastrointestinal carcinoma, Anemia, Furrowed tongue, Malabsorption,... |
ORPHA:2930 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Pleural empyema, Hypoalbuminemia, Elevated hepatic transaminase, Pleural effusion, Liver abscess |
ORPHA:67 |
| Lymphatic Malformation 1 |
|
Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis, Predominantly lower limb lymphedema |
OMIM:153100 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Dysphagia, Cleft palate, Gastrointestinal dysmotility, Bifid uvula, Absent gallbladder, Unilatera... |
ORPHA:500150 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
| Perlman Syndrome |
|
Hepatomegaly, High, narrow palate, Abnormal pancreas morphology, Cryptorchidism, Inguinal hernia,... |
ORPHA:2849 |
| Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Death in infancy, Intrauterine growth retardation, Splenomegaly, Hydrops fetalis |
OMIM:230500 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neoplasm of the lung, Neutropenia, Hepatocellular carcinoma, Elevat... |
ORPHA:158057 |
| Bacterial Toxic-Shock Syndrome |
|
Ecchymosis, Hypoalbuminemia, Peritonitis, Elevated circulating creatine kinase concentration, Ele... |
ORPHA:36234 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Aplasia/Hypoplasia of the lungs, Duodenal atresia, Abnormality of the pulmonary vasc... |
ORPHA:2092 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly |
OMIM:618107 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Anemia, Abnormality of the pancreas, Abnormal testis morphology, Neutrophilia, Abnormal lung morp... |
ORPHA:54251 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Anomalo... |
ORPHA:1120 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Optic atrophy, Death in childhood, Splenomegaly, Macrovesicular hepatic steatosis, ... |
OMIM:617303 |
| Intellectual Disability-Strabismus Syndrome |
|
High palate, Congenital finger flexion contractures, Congenital diaphragmatic hernia, Achilles te... |
ORPHA:363528 |
| Wilson Disease |
|
Proximal muscle weakness in lower limbs, Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Spleno... |
ORPHA:905 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:370079 |
| Desmoplastic Small Round Cell Tumor |
|
Hepatomegaly, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the pancreas, Abnormality of th... |
ORPHA:83469 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Increased total bilirubin, Splenomegaly |
ORPHA:90037 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Optic atrophy, Bile duct proliferation, Hyperalaninemia, Macrovesicular hepatic steatosis, Decrea... |
OMIM:618329 |
| Arterial Tortuosity Syndrome |
|
High palate, Congenital diaphragmatic hernia, Inguinal hernia, Hiatus hernia, Flexion contracture... |
OMIM:208050 |
| Trisomy 13 |
|
Optic atrophy, Intrauterine growth retardation, Hydrops fetalis |
ORPHA:3378 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Congenital diaphragmatic hernia, Inguinal hernia, Recurrent respiratory infections, Emphysema, Um... |
OMIM:219100 |
| Hereditary Hemorrhagic Telangiectasia |
|
Esophageal varix, Cholelithiasis, Cirrhosis, Gastrointestinal hemorrhage, Microcytic anemia, Inte... |
ORPHA:774 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Abnormal intestine morphology, Desquamative interstitial pneumonitis, Interstitial pneumonitis, N... |
OMIM:615952 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Cleft palate, Bilateral camptodactyly, Hypoplastic nipples, Umbilical hernia, High palate, Congen... |
OMIM:265000 |
| Lymphatic Malformation 6 |
|
Nonimmune hydrops fetalis, Ascites, Edema, Chylothorax, Facial edema, Genital edema, Polyhydramni... |
OMIM:616843 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
| Meacham Syndrome |
|
Abnormality of the spleen, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Congenital di... |
ORPHA:3097 |
| Hemochromatosis, Type 3 |
|
Neutropenia, Anemia, Cirrhosis, Lymphopenia, Elevated hepatic transaminase |
OMIM:604250 |
| Cystic Fibrosis |
|
Hepatomegaly, Malabsorption, Recurrent respiratory infections, Pulmonary fibrosis, Exocrine pancr... |
ORPHA:586 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Normochromic anemia, Cholelithiasis |
OMIM:618775 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic active hepatitis, Hypoparathyroidism, Asplenia, Cholelithiasis, Malabsorption, Enamel hyp... |
OMIM:240300 |
| Isolated Sedoheptulokinase Deficiency |
|
Hypochromic microcytic anemia, Hepatitis, Anemia, Arthrogryposis multiplex congenita, Cholestatic... |
ORPHA:440713 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Cleft palate, Splenomegaly, Diastasis recti, Umbilical hernia, Rhabdomyosarcoma, Pol... |
ORPHA:116 |
| Acro-Renal-Mandibular Syndrome |
|
High palate, Abnormal lung lobation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the t... |
ORPHA:958 |
| Blue Rubber Bleb Nevus |
|
Rectal prolapse, Iron deficiency anemia, Volvulus, Abnormality of the liver, Intussusception, Int... |
OMIM:112200 |
| Mirizzi Syndrome |
|
Gallbladder perforation, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Abnormality of the... |
ORPHA:521219 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, High palate, Hepatic fibrosis, Macroglossia, Anemia, Bifid uvula, Cholestasis |
OMIM:266920 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Aplasia of the left hemidiaphragm |
OMIM:618238 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... |
ORPHA:64753 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cleft palate, High palate, Congenital diaphragmatic hernia, Anal atresia, Anal stenosis, Pulmonar... |
OMIM:614080 |
| Budd-Chiari Syndrome |
|
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Peritonitis, Malabsorption, Splenom... |
ORPHA:131 |
| 2Q37 Microdeletion Syndrome |
|
Pyloric stenosis, Congenital diaphragmatic hernia, Umbilical hernia, Supernumerary nipple |
ORPHA:1001 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Esophageal varix, Bile duct proliferation, Cirrhosis, Elevated ci... |
OMIM:619662 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Increased circulating ferritin concentration, Hy... |
OMIM:619313 |
| Senior-Loken Syndrome 8 |
|
Hepatic cysts, Pallor, Pancreatic cysts |
OMIM:616307 |
| Achondrogenesis, Type Ia |
|
Stillbirth, Hydrops fetalis, Polyhydramnios |
OMIM:200600 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Fetal polyuria, Hypokalemia, Premature birth, Edema, Hypochloremia, Polyhydramnios,... |
OMIM:602522 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Increased circulating ferritin concentration, Pallor |
OMIM:600462 |
| Evans Syndrome |
|
Pallor, Petechiae, Jaundice |
ORPHA:1959 |
| Pagod Syndrome |
|
Abnormality of the spleen, Omphalocele, Congenital diaphragmatic hernia, Pulmonary artery hypopla... |
ORPHA:991 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Pallor |
ORPHA:49827 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Leukopenia, Anemia, Pancreatitis, Thrombocytopenia |
ORPHA:27 |
| Trichohepatoneurodevelopmental Syndrome |
|
Distal arthrogryposis, Hepatomegaly, High palate, Hypoplastic nipples, Macroglossia, Cholelithias... |
OMIM:618268 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
| Trisomy 1Q |
|
Omphalocele, Cleft palate, Congenital diaphragmatic hernia, Anal atresia, Camptodactyly of finger... |
ORPHA:261344 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:612840 |
| Elliptocytosis 1 |
|
Jaundice, Pallor, Splenomegaly |
OMIM:611804 |
| Primary Myelofibrosis |
|
Ecchymosis, Portal hypertension, Hepatomegaly, Petechiae, Splenomegaly, Hepatosplenomegaly, Purpu... |
ORPHA:824 |
| Porphyria, Congenital Erythropoietic |
|
Corneal scarring, Cholelithiasis, Joint contracture of the hand, Splenomegaly, Atypical scarring ... |
OMIM:263700 |
| Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased serum iron, Decreased transferrin saturation, Elevated hepatic iron concentration, Incr... |
ORPHA:300298 |
| Coach Syndrome 3 |
|
Anemia, Portal fibrosis |
OMIM:619113 |
| Myelofibrosis |
|
Pallor, Purpura, Splenomegaly |
OMIM:254450 |
| Lethal Congenital Contracture Syndrome 10 |
|
Fetal akinesia sequence, Oligohydramnios, Intrauterine growth retardation, Hydrops fetalis |
OMIM:617022 |
| Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Pallor, Splenomegaly, Lymphedema |
ORPHA:3226 |
| Mucopolysaccharidosis Type 7 |
|
Ascites, Hepatitis, Splenomegaly, Hydrops fetalis, Lymphedema |
ORPHA:584 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
OMIM:601927 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Increased hepatic glycogen content, Abnormal circulating fatty-acid concentration, ... |
ORPHA:263455 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cleft palate, Congenital diaphragmatic hernia, Inguinal hernia, Cryptorchidism, Umbilical hernia,... |
OMIM:618454 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Pallor, Splenomegaly |
ORPHA:56425 |
| Alg12-Cdg |
|
Hyponatremia, Intrauterine growth retardation, Hypocholesterolemia, Premature birth, Edema, Polyh... |
ORPHA:79324 |
| Metachromatic Leukodystrophy |
|
Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology, Abnormal stomach morphol... |
ORPHA:512 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Pallor, Hypokalemia |
OMIM:611590 |
| Cornelia De Lange Syndrome 1 |
|
Pyloric stenosis, High, narrow palate, Cleft palate, Hypoplastic nipples, High palate, Pneumonia,... |
OMIM:122470 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:185000 |
| Omenn Syndrome |
|
Hepatomegaly, B lymphocytopenia, Pneumonia, Hypoplasia of the thymus, Anemia, Splenomegaly, Sever... |
OMIM:603554 |
| Gamma-Heavy Chain Disease |
|
Neoplasm of the tongue, Hepatomegaly, Dysphagia, Abnormal lymphocyte morphology, Anemia, Splenome... |
ORPHA:100026 |
| 8P23.1 Microdeletion Syndrome |
|
Pulmonary artery stenosis, Congenital diaphragmatic hernia, Cryptorchidism, High palate |
ORPHA:251071 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Petechiae, Premature birth, Edema, Splenomegaly, Decreased liver function, Purpura,... |
ORPHA:90051 |
| Oculocerebrocutaneous Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:1647 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia |
ORPHA:79312 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pallor |
OMIM:608423 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood, Sple... |
OMIM:300908 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia, Skeletal muscle atrophy, Increased muscle glycogen content |
ORPHA:371 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Nonimmune hydrops fetalis, Palpebral edema, Predominantly lower limb lymphedema |
OMIM:607823 |
| Thoracoabdominal Syndrome |
|
Omphalocele, Cleft palate, Congenital diaphragmatic hernia, Ventral hernia, Pulmonary hypoplasia |
OMIM:313850 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Abnormality of the pulmonary artery, Duodenal atresia, Annular pancreas |
ORPHA:1203 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Cholesterol gallstones, Hep... |
ORPHA:209902 |
| Halperin-Birk Syndrome |
|
High palate, Pseudobulbar paralysis, Congenital diaphragmatic hernia, Inguinal hernia, Flexion co... |
OMIM:618651 |
| Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele, Cleft palate, Hi... |
ORPHA:373 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Hyperbilirubinemia, Elevated hepatic transaminase, Pallor, Increased total ... |
ORPHA:98870 |
| Fetal Alcohol Syndrome |
|
Congenital diaphragmatic hernia, Cleft palate |
ORPHA:1915 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Pyloric stenosis, Congenital diaphragmatic hernia, Cleft palate, Gastroesophageal reflux |
ORPHA:261197 |
| Galloway-Mowat Syndrome 3 |
|
Edema, Oligohydramnios, Intrauterine growth retardation, Hypoalbuminemia |
OMIM:617729 |
| Spherocytosis, Type 5 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612690 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Omphalocele, Hypoplastic colon, Hepatic fibrosis, Enlarged kidney, Hypoplasia of th... |
OMIM:200995 |
| Meacham Syndrome |
|
Neonatal death, Aplasia of the left hemidiaphragm, Stillbirth, Cardiac total anomalous pulmonary ... |
OMIM:608978 |
| Platyspondylic Dysplasia, Torrance Type |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:85166 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Portal fibrosis, Hepatic fibrosis, Esophageal varix, Incre... |
ORPHA:264580 |
| Thakker-Donnai Syndrome |
|
Rectovaginal fistula, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Anal atresia |
ORPHA:1780 |
| Fetal Encasement Syndrome |
|
Omphalocele, Aplasia of the sweat glands, Congenital diaphragmatic hernia, Protruding tongue, Bil... |
OMIM:613630 |
| Abetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated hepatic transam... |
ORPHA:14 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Unconjugated hyperbilirubinemia, Intrauterine growth retardation, Ascites, Bile duct proliferatio... |
OMIM:613658 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis |
OMIM:616738 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... |
OMIM:613027 |
| Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Lipodystrophy, Hepatomegaly, Cholelithiasis |
OMIM:619273 |
| Mosaic Trisomy 9 |
|
Intrauterine growth retardation, Asplenia, Polyhydramnios, Abnormal liver lobulation, Single umbi... |
ORPHA:99776 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Aganglionic megacolon, Anemia, Malabsorption, Abnormality of the pancreas, Lymphopenia, Recurrent... |
ORPHA:935 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Pyloric stenosis, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancrea... |
ORPHA:93111 |
| Gm1 Gangliosidosis |
|
Optic atrophy, Premature birth, Splenomegaly, Hepatosplenomegaly, Hydrops fetalis |
ORPHA:354 |
| Alveolar Echinococcosis |
|
Cholangitis, Eosinophilia, Abnormal skeletal muscle morphology, Pancreatic cysts, Abnormality of ... |
ORPHA:284 |
| Farber Disease |
|
Hepatic fibrosis, Ascites, Intrahepatic cholestasis with episodic jaundice, Hepatosplenomegaly, H... |
ORPHA:333 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hepatic fibrosis, Hydrops fetalis |
OMIM:614091 |
| Neonatal Lupus Erythematosus |
|
Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Abnormality of th... |
ORPHA:398124 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia, Pallor, Cranial nerve compression |
ORPHA:94080 |
| Trisomy 18 |
|
Omphalocele, Cleft palate, Congenital diaphragmatic hernia, Hernia, Esophageal atresia, Anal atre... |
ORPHA:3380 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Leukopenia, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion... |
OMIM:613011 |
| Caroli Syndrome |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Esophageal varix, Mel... |
ORPHA:480520 |
| Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
| Craniorachischisis |
|
Congenital diaphragmatic hernia, Omphalocele, Anal atresia |
ORPHA:63260 |
| Holoprosencephaly |
|
Abnormality of the spleen, Omphalocele, Aplasia/Hypoplasia of the lungs, Median cleft lip and pal... |
ORPHA:2162 |
| Opitz Gbbb Syndrome |
|
Omphalocele, Dysphagia, Cleft palate, Recurrent aspiration pneumonia, High palate, Ectopic anus, ... |
ORPHA:2745 |
| Seckel Syndrome 9 |
|
Congenital diaphragmatic hernia, Recurrent respiratory infections, Pulmonary artery hypoplasia |
OMIM:616777 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial effusion, Hypoalbuminemia, Pleural effusion, Periorbital edema, Lymphedema |
OMIM:235510 |
| Fryns Syndrome |
|
Ectopic pancreatic tissue, Omphalocele, Cleft palate, Aganglionic megacolon, Duodenal atresia, Me... |
OMIM:229850 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Pancreatic cysts, Pulmonary hypoplasia, Esophageal varix, Hepatic cysts, Neonatal d... |
OMIM:263200 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pallor, Mildly elevated creatine kinase |
ORPHA:536516 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Cholelithiasis, Hepatic failure |
OMIM:614886 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice |
OMIM:616649 |
| White-Sutton Syndrome |
|
High palate, Congenital diaphragmatic hernia, Facial hypotonia, Abnormality of the gastrointestin... |
ORPHA:468678 |
| Felty Syndrome |
|
Hepatomegaly, Neutropenia, Cellulitis, Abnormal lymphocyte morphology, Anemia, Pleuritis, Splenom... |
ORPHA:47612 |
| Fumarase Deficiency |
|
Optic atrophy, Hyperbilirubinemia, Cholestasis, Hepatic failure, Pallor |
OMIM:606812 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Recurrent aspiration pneumonia, Elevated hepatic transaminase, T lymphocytopenia, A... |
ORPHA:79124 |
| Greenberg Dysplasia |
|
Hepatomegaly, Hepatic calcification, Nonimmune hydrops fetalis, Neonatal death, Stillbirth, Polyh... |
OMIM:215140 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Thrombocytosis, Hepatic fibrosis, Anemia, Cirrhosis, Hepatic steatosis, Elevated ci... |
OMIM:615486 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
| X-Linked Agammaglobulinemia |
|
Neutropenia, Hepatitis, Anemia, Malabsorption, Glossoptosis, Recurrent pneumonia, Abnormal lung m... |
ORPHA:47 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia, Hepatic steatosis, Ele... |
ORPHA:348 |
| Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Stomatocytosis, Acanthocytosis, Splenomegaly, Elliptocytosis, Reticulocytosis, ... |
OMIM:109270 |
| Lathosterolosis |
|
Anisopoikilocytosis, Increased mean platelet volume, Schistocytosis, High palate, Elevated hepati... |
OMIM:607330 |
| Pearson Marrow-Pancreas Syndrome |
|
Pancreatic fibrosis, Refractory sideroblastic anemia, Malabsorption |
OMIM:557000 |
| Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Malabsorption, Abnormal mast cell ... |
ORPHA:98850 |
| Cranioectodermal Dysplasia 2 |
|
Cholangitis, Hepatomegaly, Cutis laxa, Portal fibrosis, Bile duct proliferation, Hyperbilirubinem... |
OMIM:613610 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Contractures of the joints of the lower limbs, Pancreatic hypoplasia, Arthrogryposis multiplex co... |
ORPHA:99885 |
| Pearson Syndrome |
|
Hepatomegaly, Hypokalemia, Corneal stromal edema, Macronodular cirrhosis, Hypophosphatemia, Hypop... |
ORPHA:699 |
| Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
ORPHA:675 |
| Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
OMIM:167750 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Edema, Hyperuricemia, Hyperammonemia, Pallor, Dehydration |
ORPHA:134 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Recurrent upper and lower respiratory tract infections, Cholelithiasis |
ORPHA:171876 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hyperhomocystinemia, Hypomethioninemia, Optic atrophy, Methylmalonic acidemia, Intrauterine growt... |
ORPHA:79282 |
| Craniofrontonasal Syndrome |
|
Cleft palate, Congenital diaphragmatic hernia, Unilateral breast hypoplasia, Cryptorchidism, Brea... |
OMIM:304110 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor, Increased total bilirubin |
ORPHA:90036 |
| Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, High palate, Normocytic anemia, Neutropenia, Thrombocytopenia, Hyperechogenic pancr... |
OMIM:617941 |
| Ring Chromosome 13 Syndrome |
|
High palate, Hypoplasia of the gallbladder, Anal atresia |
ORPHA:96176 |
| Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Villous atrophy, Portal fibrosis, Hepatic fibrosis, Ileoileal i... |
OMIM:619377 |
| Wolf-Hirschhorn Syndrome |
|
Abdominal situs inversus, Abnormality of the gallbladder, Aplasia/Hypoplasia of the lungs, Cleft ... |
ORPHA:280 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Pelvic girdle muscle weakness, Skeletal muscle atrophy, Hepatic fibrosis, Hepatocel... |
ORPHA:79240 |
| Diaphragmatic Hernia 2 |
|
Congenital diaphragmatic hernia, Agenesis of the diaphragm |
OMIM:222400 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Villous atrophy, Coombs-positive hemolytic anemia, Hepatitis, Anemia, Autoimmune thr... |
OMIM:304790 |
| Smith-Lemli-Opitz Syndrome |
|
Pyloric stenosis, Cleft palate, Abnormality of the gallbladder, Aganglionic megacolon, Abnormal l... |
ORPHA:818 |
| Meckel Syndrome, Type 3 |
|
