Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal pericardial effusion, Fetal ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis, Polyhydra... |
OMIM:619462 |
Nuchal Bleb, Familial |
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Hydrops fetalis, Fetal cystic hygroma, Stillbirth |
OMIM:257350 |
Mitchell-Riley Syndrome |
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Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis... |
OMIM:615710 |
Martinez-Frias Syndrome |
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Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... |
OMIM:601346 |
Hemochromatosis, Neonatal |
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Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Increased circulatin... |
OMIM:231100 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... |
OMIM:619868 |
Biliary Atresia, Extrahepatic |
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Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... |
OMIM:210500 |
Diamond-Blackfan Anemia 19 |
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Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
Microphthalmia, Syndromic 12 |
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Intestinal malrotation, Cryptorchidism, Congenital diaphragmatic hernia, Neonatal death, Cleft pa... |
OMIM:615524 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
Pentalogy Of Cantrell |
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Polysplenia, Absent gallbladder, Congenital diaphragmatic hernia, Omphalocele, Cleft palate, Pulm... |
ORPHA:1335 |
Congenital Alveolar Capillary Dysplasia |
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Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl... |
ORPHA:210122 |
Fetal Parvovirus Syndrome |
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Ascites, Intrauterine growth retardation, Increased nuchal translucency, Hydrops fetalis |
ORPHA:295 |
Meckel Syndrome, Type 6 |
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Hepatic fibrosis, Pulmonary hypoplasia, Absent gallbladder, Hepatic cysts, Bilobed right lung, Bi... |
OMIM:612284 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
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Congenital diaphragmatic hernia, Neonatal death |
OMIM:226735 |
Protoporphyria, Erythropoietic, X-Linked |
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Cholelithiasis, Iron deficiency anemia, Elevated circulating hepatic transaminase concentration |
OMIM:300752 |
Cardiomyopathy, Familial Restrictive, 6 |
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Hepatic artery hyperplasia, Ascites, Death in infancy, Portal vein hypoplasia, Hepatomegaly, Hydr... |
OMIM:619433 |
Nephrotic Syndrome, Type 2 |
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Hypoalbuminemia, Hyperlipidemia, Edema |
OMIM:600995 |
Congenital Lethal Erythroderma |
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Hypoalbuminemia, Dry skin, Death in infancy |
ORPHA:1954 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
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Hypoalbuminemia, Hypermethioninemia, Increased circulating creatine kinase MM isoform, Elevated c... |
OMIM:613752 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... |
OMIM:235700 |
Transaldolase Deficiency |
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Premature skin wrinkling, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Incre... |
ORPHA:101028 |
Hydrops Fetalis, Nonimmune |
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Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Hepatomegaly, Pallor, Splenomegaly |
ORPHA:46532 |
Transient Erythroblastopenia Of Childhood |
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Anemia, Transient erythroblastopenia |
OMIM:227050 |
Hemoglobin D Disease |
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Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
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Intrauterine growth retardation, Redundant neck skin, Nonimmune hydrops fetalis, Hyperprolinemia,... |
OMIM:619003 |
Matthew-Wood Syndrome |
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Annular pancreas, Duodenal stenosis, Cryptorchidism, Congenital diaphragmatic hernia, Abnormal sp... |
ORPHA:2470 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Abnormality of the diaphrag... |
OMIM:601163 |
Erythroderma, Lethal Congenital |
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Hypoalbuminemia, Death in infancy |
OMIM:227090 |
Lymphatic Malformation 8 |
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Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... |
OMIM:618773 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
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Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:613124 |
Analbuminemia |
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Hypoalbuminemia, Increased LDL cholesterol concentration, Oligohydramnios, Elevated circulating t... |
OMIM:616000 |
Hb Bart'S Hydrops Fetalis |
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Oligohydramnios, Pallor, Splenomegaly, Hepatomegaly, Polyhydramnios, Hydrops fetalis |
ORPHA:163596 |
Diarrhea 13 |
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Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis |
OMIM:620357 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Fat malabso... |
ORPHA:309108 |
Lymphatic Malformation 12 |
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Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Neonatal death, Nonimmu... |
OMIM:620014 |
Diaphragmatic Hernia 5, X-Linked |
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Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
Developmental And Epileptic Encephalopathy 96 |
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Hydrops fetalis, Death in infancy |
OMIM:619340 |
Pyruvate Kinase Deficiency Of Red Cells |
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Cholelithiasis, Intrauterine growth retardation, Pallor, Cholecystitis, Reduced haptoglobin level... |
OMIM:266200 |
Isolated Biliary Atresia |
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Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... |
ORPHA:30391 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Colon perforation, Microcolon, Pancreatic hypoplasia, Umbilical hernia, Intestinal malrotation, A... |
OMIM:600001 |
Congenital Disorder Of Glycosylation, Type Ik |
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Intrauterine growth retardation, Splenomegaly, Death in infancy, Nonimmune hydrops fetalis, Hepat... |
OMIM:608540 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia, Edema |
OMIM:615573 |
Congenital Diaphragmatic Hernia |
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Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Pul... |
ORPHA:2140 |
Congenital Disorder Of Glycosylation, Type Ih |
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Hypoalbuminemia, Decreased liver function, Ascites, Elevated circulating creatinine concentration... |
OMIM:608104 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia, Edema |
OMIM:614131 |
Focal Segmental Glomerulosclerosis 1 |
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Hypoalbuminemia, Ascites, Hyperlipidemia, Pleural effusion, Edema |
OMIM:603278 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... |
OMIM:613470 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Hepatic failure, Ascites, Elevated circulating aspartate aminotransferase concentration, Pleural ... |
OMIM:617049 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
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Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decrea... |
ORPHA:367 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Optic disc pallor, Pallor |
OMIM:609021 |
Coenzyme Q10 Deficiency, Primary, 3 |
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Hypoalbuminemia, Edema |
OMIM:614652 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th... |
ORPHA:848 |
Reticuloendotheliosis, X-Linked |
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Anemia, Jaundice, Hepatosplenomegaly |
OMIM:312500 |
Dehydrated Hereditary Stomatocytosis |
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Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... |
OMIM:618528 |
Autosomal Erythropoietic Protoporphyria |
|
Microcytic anemia, Cholelithiasis, Cirrhosis, Decreased liver function |
ORPHA:79278 |
Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
Diffuse Neonatal Hemangiomatosis |
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Ascites, Hepatomegaly, Polyhydramnios, Hydrops fetalis, Hypercalcemia, Premature birth |
ORPHA:2123 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
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Polyhydramnios, Hepatomegaly, Hydrops fetalis, Splenomegaly |
ORPHA:2204 |
8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism |
DECIPHER:39 |
Congenital Analbuminemia |
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Hypoalbuminemia, Facial edema, Edema, Premature birth, Oligohydramnios, Hyperlipidemia, Hyperchol... |
ORPHA:86816 |
Glycogen Storage Disease Iv |
|
Hepatic failure, Ascites, Abnormal circulating creatine kinase concentration, Hepatosplenomegaly,... |
OMIM:232500 |
Congenital Enterocyte Heparan Sulfate Deficiency |
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Hypoalbuminemia, Edema, Abnormal circulating protein concentration, Abnormal circulating polysacc... |
ORPHA:103910 |
Axial Mesodermal Dysplasia Spectrum |
|
Gastroesophageal reflux, Abnormality of the spleen, Abnormality of the liver, Anorectal anomaly, ... |
ORPHA:1834 |
Hereditary Continuous Muscle Fiber Activity |
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Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas |
ORPHA:1195 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Increased variability in muscle fiber diameter, Cholelithiasis, Splenomegaly, ... |
OMIM:611881 |
Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... |
OMIM:600803 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:182900 |
Cyanosis, Transient Neonatal |
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Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice |
OMIM:613977 |
Fetal Gaucher Disease |
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Abnormality of the spleen, Splenomegaly, Death in infancy, Neonatal death, Fetal akinesia sequenc... |
ORPHA:85212 |
Infantile Sialic Acid Storage Disease |
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Ascites, Death in childhood, Splenomegaly, Hepatomegaly, Hydrops fetalis, Conjugated hyperbilirub... |
OMIM:269920 |
Achondrogenesis, Type Ib |
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Breech presentation, Stillbirth, Polyhydramnios, Hydrops fetalis, Edema |
OMIM:600972 |
Glycogen Storage Disease Vii |
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Increased variability in muscle fiber diameter, Cholelithiasis, Increased muscle glycogen content... |
OMIM:232800 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... |
OMIM:194380 |
Congenital Heart Block |
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Intrauterine growth retardation, Oligohydramnios, Pleural effusion, Peripheral edema, Pallor, Vag... |
ORPHA:60041 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
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Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia |
ORPHA:2141 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hemolytic anemia, Hepatic failure |
OMIM:177000 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Intrauterine growth retardation, Death in infancy, Neonatal death, Noni... |
OMIM:618835 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... |
ORPHA:65682 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased liver function, Intrauterine growth retardation, Death in infancy, Neonatal death, Noni... |
OMIM:618839 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased liver functi... |
ORPHA:231222 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... |
ORPHA:766 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... |
ORPHA:64743 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, ... |
ORPHA:3032 |
Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Congenital diaphragmatic hernia, Omphalocele |
OMIM:613630 |
Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... |
OMIM:620632 |
Chondrodysplasia, Blomstrand Type |
|
Fetal ascites, Stillbirth, Polyhydramnios, Hydrops fetalis, Premature birth |
OMIM:215045 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... |
OMIM:211600 |
Indomethacin Embryofetopathy |
|
Oligohydramnios, Hydrops fetalis, Premature birth |
ORPHA:1909 |
Mpi-Cdg |
|
Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, Portal hypertension, Hepatomegaly, E... |
ORPHA:79319 |
Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Fetal ascites, Hepatic failure, Hepatitis, Fetal distress, Cholestasis, Pleural ... |
ORPHA:292 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Anterior pituitary agenesis, Pancreatic hypoplasia, Umbilical hernia, Exocrine pancreatic insuffi... |
ORPHA:2255 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Flexion contracture, Congenital diaphragmatic hernia |
ORPHA:171719 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Decreased motor nerve conduction velocity, Hypercholesterolemia |
OMIM:607250 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Abnormal lung lobation, Congenital diaphragmatic hernia, Omphalocele, Flexio... |
OMIM:263210 |
Hydrops Fetalis |
|
Generalized edema, Increased placental thickness, Lymphedema, Ascites, Pleural effusion, Nonimmun... |
ORPHA:1041 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Death in childhood, Cirrhosis, Hepatomegaly, ... |
OMIM:602579 |
Leishmaniasis |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Skin ulcer, Pallor, Spl... |
ORPHA:507 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... |
OMIM:617156 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Cleft palate, Cryptorchidism, Abnormality of the pulmonary artery |
ORPHA:1166 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Oli... |
OMIM:619013 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
Congenital Pulmonary Lymphangiectasia |
|
Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Hydrops fetalis, Chylopericardium |
ORPHA:2414 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia, Edema |
OMIM:610725 |
Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:261102 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia, Pedal edema |
ORPHA:84090 |
Dextrocardia |
|
Abnormality of abdominal situs, Pancreatic hypoplasia, Meckel diverticulum, Abnormal lung lobatio... |
ORPHA:1666 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Hamartoma of tongue, Absent gallbladder, Neonatal death, Anal atresia, Esophageal diverticulum, C... |
OMIM:617925 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration, Pallor,... |
ORPHA:75563 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
High palate, Absent gallbladder, Pancreatic aplasia |
ORPHA:556955 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Congenital diaphragmatic hernia |
OMIM:614100 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Exocrine pancreatic insufficiency, Absent gallbladder, Neonatal death, Elevated circulating alani... |
OMIM:618500 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Fetal pericardial effusion, Decreased liver function, Ascites, Intrauterine grow... |
OMIM:617021 |
Alg8-Cdg |
|
Optic atrophy, Elevated circulating hepatic transaminase concentration, Premature skin wrinkling,... |
ORPHA:79325 |
Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology |
ORPHA:438274 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Ascites, Hypocholesterolemia, Fetal skin edema, Splenomegaly, Decreased fetal mo... |
OMIM:608776 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Hydrops fetalis, Death in infancy |
OMIM:618815 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia, Edema |
OMIM:614196 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology, Congenit... |
ORPHA:2847 |
Sialidosis Type 2 |
|
Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis, Pedal edema |
ORPHA:87876 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase c... |
OMIM:618805 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... |
OMIM:613070 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Thrombocytopenia, Anemia, Cleft palate |
ORPHA:163979 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... |
OMIM:616860 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Elevated c... |
OMIM:617093 |
Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... |
ORPHA:822 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... |
OMIM:615285 |
Shwachman-Diamond Syndrome |
|
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... |
ORPHA:811 |
1Q41Q42 Microdeletion Syndrome |
|
Cryptorchidism, Submucous cleft hard palate, Congenital diaphragmatic hernia, Hyposegmentation of... |
ORPHA:250999 |
Tonne-Kalscheuer Syndrome |
|
Velopharyngeal insufficiency, Decreased testicular size, Cryptorchidism, Congenital diaphragmatic... |
OMIM:300978 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Cholelithiasis, Skeletal muscle atrophy, Splenomegaly, Macrocytic anemia, Chol... |
OMIM:615512 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
Free Sialic Acid Storage Disease |
|
Skin ulcer, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis |
ORPHA:834 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Distal Duplication 5Q |
|
Hernia, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism |
ORPHA:96097 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Abnormal pulmonary ... |
OMIM:607616 |
Trisomy 10P |
|
Gastroesophageal reflux, Decreased muscle mass, Absent gallbladder, Camptodactyly, High palate, R... |
ORPHA:171929 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Abnormal circulating creatine kinase concentration, Decreased fetal movement, Hydrops fetalis, Po... |
OMIM:255320 |
Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Leuko... |
ORPHA:53035 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... |
OMIM:251880 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Elevated circulating hepatic transaminase concentration, Abn... |
ORPHA:88618 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Bifid uvula, Congenital diaphragmatic hernia, Macrocytic anemia, Granulocytopenia, Cleft palate |
OMIM:606164 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormal lung lobation, Cryptorchidism, Congenital diaphragmatic hernia, Inguinal hernia, Anal at... |
ORPHA:2063 |
Alg6-Cdg |
|
Hypoalbuminemia, Jaundice, Decreased LDL cholesterol concentration, Abnormality of the liver |
ORPHA:79320 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... |
ORPHA:288 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, Portal hyperte... |
OMIM:610199 |
Trisomy 8P |
|
Bifid uvula, Peripheral pulmonary artery stenosis, Recurrent upper respiratory tract infections, ... |
ORPHA:264450 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
Acrocallosal Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia, Cryptorchidism |
ORPHA:36 |
Vacterl/Vater Association |
|
Anorectal anomaly, Abnormality of the gallbladder, Cryptorchidism, Congenital diaphragmatic herni... |
ORPHA:887 |
Hyperbiliverdinemia |
|
Cholestasis, Cholelithiasis, Decreased liver function |
OMIM:614156 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... |
ORPHA:232 |
8P Inverted Duplication/Deletion Syndrome |
|
High, narrow palate, Small hypothenar eminence, Contractures of the large joints, Cryptorchidism,... |
ORPHA:96092 |
Alpha-Heavy Chain Disease |
|
Anemia, Hepatomegaly, Abnormal small intestine morphology, Splenomegaly |
ORPHA:100025 |
Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia |
OMIM:602079 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... |
ORPHA:247585 |
Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia, Cryptorchidism, Esophageal atresia, Omphalocele, Anal atresia, C... |
ORPHA:95706 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
Isolated Anencephaly |
|
Thymus hyperplasia, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:563609 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Generalized edema, Increased circulating ferritin concentration, Increased total... |
OMIM:267700 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia, Generalized edema, Edema |
OMIM:615244 |
Xp22.13P22.2 Duplication Syndrome |
|
Recurrent upper respiratory tract infections, Umbilical hernia, Congenital diaphragmatic hernia, ... |
ORPHA:284180 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice |
OMIM:605479 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa... |
ORPHA:247598 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Premature birth, Nonimmune hydrops fetalis, Elevated circulating... |
OMIM:618838 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Serkal Syndrome |
|
Malrotation of small bowel, Congenital diaphragmatic hernia, Pulmonary hypoplasia |
ORPHA:139466 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Pallor |
OMIM:613341 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic atrophy, Optic disc pallor, Pallor |
OMIM:612989 |
Schisis Association |
|
Congenital diaphragmatic hernia, Tracheoesophageal fistula, Omphalocele, Anal atresia, Cleft palate |
ORPHA:63862 |
Donnai-Barrow Syndrome |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia |
ORPHA:2143 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Pallor |
OMIM:606353 |
Genitopalatocardiac Syndrome |
|
Abnormal mesentery morphology, Abnormality of the gallbladder, Congenital diaphragmatic hernia, C... |
ORPHA:2075 |
Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Pancreatic adeno... |
ORPHA:2869 |
Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Ulcerative colitis |
OMIM:619398 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hydrops fetalis, Neonatal death |
OMIM:276822 |
Zttk Syndrome |
|
Bifid uvula, Absent gallbladder, Submucous cleft hard palate, Unilateral lung agenesis, Intestina... |
OMIM:617140 |
Diamond-Blackfan Anemia 10 |
|
Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia, Macrocytic anemia, Steroid-respon... |
OMIM:613309 |
Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia, Umbilical hernia |
ORPHA:380 |
Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Reticulocytosis, Myopathy, Jaundice, Hemolytic anemia |
ORPHA:33574 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Joint contracture of the hand, Distal amyotrophy, Foot joint contracture, Exocrine pancreatic ins... |
ORPHA:456312 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic ... |
ORPHA:1667 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatome... |
OMIM:613313 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia |
OMIM:608898 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Optic atrophy, Hepatic fibrosis, Elevated circulating hepatic transaminase conce... |
OMIM:619487 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Periorbital edema, Peritonitis, Edema |
ORPHA:656 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... |
ORPHA:567548 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Cleft palate |
OMIM:300712 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia |
OMIM:246700 |
Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
Steinfeld Syndrome |
|
Bifid uvula, Absent gallbladder, Median cleft palate |
OMIM:184705 |
Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia |
ORPHA:99811 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Generalized edema, Ascites, Hepatomegaly, Hypoproteinemia, Edema |
OMIM:226300 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Generalized edema, Elevated circulating hepatic transaminase concentration, Incr... |
OMIM:603553 |
Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Generalized edema, Peritoneal effusion, Hypomagnesemia, Ascites, Pleural effusio... |
ORPHA:90362 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... |
ORPHA:540 |
Dermatitis, Atopic |
|
Dry skin, Facial erythema, Pallor |
OMIM:603165 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Focal pancreatic islet hyperplasia, Pallor, Hepatomegaly, I... |
ORPHA:276575 |
Irida Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration, Pallor |
ORPHA:209981 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly, Increased C-peptide level, Decreased ... |
ORPHA:276556 |
Tetrasomy 9P |
|
Bifid uvula, Umbilical hernia, Abnormal dental enamel morphology, Absent gallbladder, Cryptorchid... |
ORPHA:3310 |
Optic Atrophy 1 |
|
Optic atrophy, Pallor |
OMIM:165500 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Emanuel Syndrome |
|
Gastroesophageal reflux, Intestinal malrotation, Cryptorchidism, Recurrent sinusitis, Congenital ... |
OMIM:609029 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Gastroesophageal reflux, Aplas... |
OMIM:614742 |
Autoinflammation With Infantile Enterocolitis |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circulating ferrit... |
OMIM:616050 |
Lowry-Maclean Syndrome |
|
High, narrow palate, Abnormality of the abdominal organs, Bilateral cryptorchidism, Congenital di... |
ORPHA:2409 |
Achondrogenesis |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold |
ORPHA:932 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Reduced subcutaneous adipose tissue, Anemia, Flexion contracture, Pancreat... |
OMIM:609069 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Intrauterine growth retardation |
OMIM:618347 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Cryptorch... |
ORPHA:94065 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Microphthalmia, Syndromic 9 |
|
Diaphragmatic eventration, Agenesis of pulmonary vessels, Multilobulated spleen, Alveolar capilla... |
OMIM:601186 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Edema |
OMIM:256300 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia, Jaundice |
OMIM:603552 |
Mulibrey Nanism |
|
Ascites, Hepatomegaly, Intrauterine growth retardation, Hydrops fetalis |
OMIM:253250 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... |
OMIM:609015 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Pallor, Splenomegaly, Elevated hepatic iron concent... |
OMIM:615234 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c... |
OMIM:206100 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased serum bile ac... |
OMIM:242150 |
Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio... |
ORPHA:158061 |
Gaucher Disease Type 1 |
|
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatosplenomegaly, Pancytopenia, Hypersplen... |
ORPHA:77259 |
Mody |
|
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Hepatocellular adenoma, Pancreatic hy... |
ORPHA:552 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Anasarca, Hypomagnesemia, Ascites, Pleural effusion, Hypocalcemia, Death in infa... |
OMIM:618183 |
American Trypanosomiasis |
|
Pallor, Splenomegaly, Aganglionic megacolon, Hepatomegaly, Periorbital edema, Edema |
ORPHA:3386 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... |
ORPHA:79095 |
Long-Olsen-Distelmaier Syndrome |
|
Premature rupture of membranes, Elevated circulating aspartate aminotransferase concentration, Hy... |
OMIM:620609 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Edema, Ascites, Hypoalbuminemia |
ORPHA:2070 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Hepatic failure, Splenomegaly, Hepatomegaly, Elevated circulating C-reactive pro... |
OMIM:308240 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
Achondrogenesis Type 1B |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold |
ORPHA:93298 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Congenital diaphragmatic hernia |
OMIM:300887 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Facial palsy |
OMIM:615085 |
Alg1-Cdg |
|
Hypoalbuminemia, Decreased liver function |
ORPHA:79327 |
Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:260370 |
Primary Biliary Cholangitis |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... |
ORPHA:186 |
Campomelia, Cumming Type |
|
Lymphedema, Pancreatic cysts, Oligohydramnios, Death in infancy, Hepatomegaly, Hydrops fetalis, A... |
ORPHA:1318 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Hydrops fetalis, Single umbilical artery |
ORPHA:3405 |
Avian Influenza |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatitis, Pleural effu... |
ORPHA:454836 |
Coffin-Siris Syndrome 3 |
|
Umbilical hernia, Inguinal hernia, Macroglossia, High palate, Cleft palate, Central diaphragmatic... |
OMIM:614608 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital pulmonary airway malformation, Bilateral lung agenesis, Adrenal gland agenesis, Congen... |
OMIM:611812 |
Neuraminidase Deficiency |
|
Facial edema, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis |
OMIM:256550 |
Achondrogenesis Type 1A |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold |
ORPHA:93299 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pallor |
OMIM:613561 |
Craniofrontonasal Dysplasia |
|
High palate, Congenital diaphragmatic hernia, Camptodactyly of finger |
ORPHA:1520 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Cebalid Syndrome |
|
High palate, Congenital diaphragmatic hernia |
OMIM:618774 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:166300 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Omphalocele |
ORPHA:3186 |
Fryns Syndrome |
|
Gastroesophageal reflux, Intestinal malrotation, Cryptorchidism, Congenital diaphragmatic hernia,... |
ORPHA:2059 |
Idiopathic Neonatal Atrial Flutter |
|
Hydrops fetalis, Fetal distress |
ORPHA:45452 |
Immunodeficiency 27A |
|
Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly |
OMIM:209950 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of toe, Pancreatic hypoplasia, Camptodactyly of finger, Decreased response to... |
OMIM:602782 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoc... |
OMIM:212065 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Optic atrophy, Elevated circulating hepatic transaminase concentration, Ascites,... |
OMIM:610965 |
Al Amyloidosis |
|
Hypoalbuminemia, Xerostomia, Postural hypotension with compensatory tachycardia, Abnormality of t... |
ORPHA:85443 |
Boomerang Dysplasia |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:1263 |
Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Port... |
OMIM:617394 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Increased C-peptide level |
ORPHA:276580 |
Mu-Heavy Chain Disease |
|
Anemia, Hepatomegaly, Abnormal B cell count, Splenomegaly |
ORPHA:100024 |
Long Qt Syndrome 3 |
|
Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:603830 |
13Q12.3 Microdeletion Syndrome |
|
Camptodactyly, Recurrent respiratory infections, Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:412035 |
Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor, Increased C-peptide level, Decreased circulating free fatty acid level |
ORPHA:324575 |
Emanuel Syndrome |
|
Bifid uvula, Gastroesophageal reflux, Cryptorchidism, Congenital diaphragmatic hernia, Multiple j... |
ORPHA:96170 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Pyloric stenosis, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Ga... |
OMIM:613177 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Ascites, Pleural effusion, Palpebral edema, Hydrops fetalis |
ORPHA:69735 |
Cooper-Jabs Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia, Anteriorly placed anus, Camptodactyly of finger |
ORPHA:1488 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... |
OMIM:265300 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pyloric stenosis, Cholelithiasis, Pancreatic hypoplasia, Contracture of the distal interphalangea... |
ORPHA:83617 |
Sialuria |
|
High, narrow palate, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hep... |
ORPHA:3166 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... |
ORPHA:79302 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor, Abnormal circulating protein concentration, Pedal edema, Abnormal circulating albu... |
ORPHA:86839 |
Infantile Liver Failure Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis... |
OMIM:615438 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Dysphagia, Facial diplegia |
OMIM:160900 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Hepatitis, El... |
OMIM:613812 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Facial edema, Edema, Anasarca, Ascites, Hyperlipidemia, Pleural effusion, Palpeb... |
ORPHA:567546 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Pulmonary hypoplasia, Biliary cirrhos... |
OMIM:208540 |
Gaucher Disease, Perinatal Lethal |
|
Hepatic failure, Desquamation of skin soon after birth, Ascites, Intrauterine growth retardation,... |
OMIM:608013 |
Wolman Disease |
|
Hepatic failure, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, St... |
ORPHA:75233 |
Perlman Syndrome |
|
Distal ileal atresia, Visceromegaly, Volvulus, Cryptorchidism, Pancreatic islet-cell hyperplasia,... |
OMIM:267000 |
Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
Immunodeficiency 102 |
|
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... |
OMIM:301082 |
Chromosome 15Q25 Deletion Syndrome |
|
Polysplenia, Congenital diaphragmatic hernia, Cryptorchidism, Macrocytic anemia, Inguinal hernia,... |
OMIM:614294 |
Immunodeficiency 32B |
|
Pneumonia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thr... |
OMIM:226990 |
Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Joint contracture of the hand, Atypical scarring of skin, Corneal scarring, Splen... |
OMIM:263700 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Hepatic stea... |
OMIM:278000 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Eosinophilia, Familial |
|
Leukocytosis, Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Anemia |
OMIM:131400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Intrauterine growth retardation, Death in childhood, Death in infancy, Neonatal ... |
OMIM:619055 |
Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Hepatic fibrosis, ... |
OMIM:222470 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Hepatomegaly |
ORPHA:28 |
Mosaic Trisomy 1 |
|
Camptodactyly of finger, Elbow flexion contracture, Congenital diaphragmatic hernia, Hepatic agen... |
ORPHA:1692 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Umbilical hernia, Congenital diaphragmatic hernia, Cryptorchidism, Ingui... |
ORPHA:2311 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... |
OMIM:602347 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Supernumerary nipple, Cryptorchidism, Congenital diaphragmatic hernia, High palate, Cleft palate,... |
OMIM:612530 |
Lymphatic Malformation 1 |
|
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis |
OMIM:153100 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ascites, Intrauterine growth retardation, Pleural effusion, Single umbilical artery, Polyhydramni... |
OMIM:616897 |
Czeizel-Losonci Syndrome |
|
Hypoplastic nipples, Tracheoesophageal fistula, High palate, Posterolateral diaphragmatic hernia,... |
ORPHA:2437 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Intestinal malrotation, Cryptorchidism, Congenital diaphragmatic hernia, Anal atresia, Camptodact... |
OMIM:617602 |
Klippel-Trénaunay Syndrome |
|
Ascites, Hepatomegaly, Hydrops fetalis, Edema |
ORPHA:90308 |
Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
Intellectual Disability-Strabismus Syndrome |
|
Joint contracture of the hand, Gastroesophageal reflux, Decreased response to growth hormone stim... |
ORPHA:363528 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc... |
OMIM:557000 |
Refractory Celiac Disease |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypomagnesemia, Abnorma... |
ORPHA:398063 |
Ménétrier Disease |
|
Hypoalbuminemia, Peripheral edema, Hypoproteinemia |
ORPHA:2494 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Liver Disease, Severe Congenital |
|
Portal inflammation, Hepatic steatosis, Pulmonary edema, Abnormal hepatic echogenicity, Hepatomeg... |
OMIM:619991 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Intestinal obstruct... |
ORPHA:44890 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Achondrogenesis, Type Ii |
|
Polyhydramnios, Hydrops fetalis, Edema, Stillbirth |
OMIM:200610 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... |
OMIM:612714 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Decreased muscl... |
ORPHA:298 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Bifid uvula, Gastroesophageal reflux, Emphysema, Absent gallbladder, Submucous cleft soft palate,... |
ORPHA:500150 |
Jansen-De Vries Syndrome |
|
Gastroesophageal reflux, Central diaphragmatic hernia |
OMIM:617450 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia |
OMIM:241600 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Recurrent upper respiratory tract infections, Celiac disease, Exocrine pancreatic insufficiency, ... |
OMIM:615952 |
Ppoma |
|
Intrahepatic cholestasis, Cholelithiasis, Gastrointestinal hemorrhage, Pituitary adenoma, Intesti... |
ORPHA:97278 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the lungs, Anomalous pulmonary venous retu... |
ORPHA:1120 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cholelithiasis, Recurrent upper respiratory tract infections, Decreased testicular size, Furrowed... |
OMIM:300534 |
Grfoma |
|
Intrahepatic cholestasis, Cholelithiasis, Gastrointestinal hemorrhage, Pituitary adenoma, Intesti... |
ORPHA:97261 |
Hemochromatosis, Type 4 |
|
Anemia, Hepatomegaly, Cirrhosis, Hepatic steatosis |
OMIM:606069 |
Trisomy 1Q |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Omphalocele, Anal atres... |
ORPHA:261344 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Hepatomegal... |
OMIM:620296 |
Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Prolonged neon... |
ORPHA:529808 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Hydrops fetalis |
OMIM:616738 |
Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Prolonged neon... |
ORPHA:529799 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia, Facial palsy |
OMIM:611490 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
Desmoplastic Small Round Cell Tumor |
|
Ileus, Hepatomegaly, Testicular neoplasm, Abnormal peritoneum morphology, Anemia, Ovarian neoplas... |
ORPHA:83469 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Perlman Syndrome |
|
High, narrow palate, Abnormal pancreas morphology, Inguinal hernia, Cryptorchidism, Hepatomegaly,... |
ORPHA:2849 |
Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Anasarca, Reduced circulating transferrin concentration, Lymphedema, Hypocholest... |
ORPHA:90363 |
Focal Dermal Hypoplasia |
|
Gastroesophageal reflux, Camptodactyly of finger, Acute hepatic failure, Umbilical hernia, Abnorm... |
ORPHA:2092 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Volvulus, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia... |
OMIM:112200 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased connective tissue, ... |
OMIM:226670 |
Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypocalcemia, Hyponatre... |
ORPHA:247353 |
Reni Syndrome |
|
Hypoalbuminemia, Edema, Hypertriglyceridemia |
OMIM:617575 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Splenomegaly, Increased total bilirubin |
ORPHA:90037 |
Meacham Syndrome |
|
Abnormal lung lobation, Abnormality of the spleen, Cryptorchidism, Congenital diaphragmatic herni... |
ORPHA:3097 |
Wilson Disease |
|
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... |
OMIM:277900 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Diaphragm... |
OMIM:222448 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Diastasis recti, Inguinal... |
ORPHA:440713 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Optic atrophy, Elevated circulating hepatic transaminase concentration, Decrease... |
OMIM:618329 |
Lymphatic Malformation 6 |
|
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Genital edema, Pleural effusio... |
OMIM:616843 |
Evans Syndrome |
|
Jaundice, Pallor, Petechiae |
ORPHA:1959 |
Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly |
OMIM:618107 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Nonimmune hydrops fetalis, Hypertriglyceridemia, Pe... |
OMIM:619313 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Elevated circulating hepatic transaminase concentration, Abnormal testis morphology... |
ORPHA:54251 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Congenital diaphragmatic hernia, Trache... |
ORPHA:958 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Fetal pleural effusion, Nonimmune hydrops fetalis, Death in infancy, Neonatal death |
OMIM:620167 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... |
ORPHA:158057 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Cholelithiasis, Normochromic anemia |
OMIM:618775 |
Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Hepatitis, Elevated circulating creatinine concentration, Hypocalcemia, Elevated... |
ORPHA:36234 |
Primary Myelofibrosis |
|
Hepatosplenomegaly, Pallor, Petechiae, Portal hypertension, Ecchymosis, Splenomegaly, Hepatomegal... |
ORPHA:824 |
Hemochromatosis, Type 3 |
|
Elevated circulating hepatic transaminase concentration, Lymphopenia, Cirrhosis, Neutropenia, Anemia |
OMIM:604250 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pleural effusion, Pleur... |
ORPHA:67 |
Gm1-Gangliosidosis, Type I |
|
Intrauterine growth retardation, Splenomegaly, Death in infancy, Hepatomegaly, Hydrops fetalis |
OMIM:230500 |
Proximal 16P11.2 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:370079 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619662 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Pallor |
ORPHA:49827 |
2Q37 Microdeletion Syndrome |
|
Pyloric stenosis, Umbilical hernia, Congenital diaphragmatic hernia, Supernumerary nipple |
ORPHA:1001 |
Wilson Disease |
|
Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,... |
ORPHA:905 |
Congenital Syphilis |
|
Optic atrophy, Intrauterine growth retardation, Large placenta, Palmoplantar scaling skin, Petech... |
ORPHA:499009 |
Mirizzi Syndrome |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, Gallbladde... |
ORPHA:521219 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Gastroesophageal reflux, Congenital diaphragmatic hernia, Anal atresia, High palat... |
OMIM:614080 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Aplasia of the left hemidiaphragm |
OMIM:618238 |
Myelofibrosis |
|
Hepatomegaly, Purpura, Pallor, Splenomegaly |
OMIM:254450 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Diaphragmatic eventration, Arthrogryposis multiplex congenita, Umbilical hernia, Cryptorchidism, ... |
OMIM:265000 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
OMIM:601927 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... |
ORPHA:64753 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Pallor, Splenomegaly, Lymphedema |
ORPHA:3226 |
Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Optic atrophy, Death in childhood, Splenomegaly, Hepatomegaly, Macrovesicular he... |
OMIM:617303 |
Trisomy 13 |
|
Optic atrophy, Intrauterine growth retardation, Hydrops fetalis |
ORPHA:3378 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia |
ORPHA:27 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Periorbital edema, Erythema, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminot... |
OMIM:620376 |
Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Neoplasm... |
ORPHA:100026 |
Beckwith-Wiedemann Syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Visceromegaly, Pol... |
ORPHA:116 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... |
ORPHA:300298 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor, Splenomegaly, Jaundice, Decreased glucose-6-phosphate dehydrogenase level in blood, Prolo... |
OMIM:300908 |
Coach Syndrome 3 |
|
Anemia, Portal fibrosis |
OMIM:619113 |
Duodenal Atresia |
|
Abnormality of the pulmonary artery, Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
Pagod Syndrome |
|
Pulmonary artery hypoplasia, Abnormality of the spleen, Congenital diaphragmatic hernia, Abnormal... |
ORPHA:991 |
Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis, Congenital diaphragmatic hernia, Asplenia, Anal atresia, Peripheral pulmo... |
OMIM:273395 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Hepatosplenomegaly, Pallor |
OMIM:611590 |
Cold Agglutinin Disease |
|
Hepatomegaly, Pallor, Splenomegaly |
ORPHA:56425 |
Meacham Syndrome |
|
Accessory spleen, Diaphragmatic eventration, Aplasia of the right hemidiaphragm, Scimitar anomaly... |
OMIM:608978 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Decreased circulating carnitine concentration, Elevated circulating aspartate aminotransferase co... |
OMIM:246450 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
High palate, Congenital diaphragmatic hernia |
OMIM:619699 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Intestinal malrotation, Scimitar anomaly, Cryptorchidism, Congenital diaphragma... |
OMIM:618280 |
Cornelia De Lange Syndrome 1 |
|
Pneumonia, High, narrow palate, Gastroesophageal reflux, Elbow flexion contracture, Cryptorchidis... |
OMIM:122470 |
Mucopolysaccharidosis Type 7 |
|
Hepatitis, Lymphedema, Ascites, Splenomegaly, Hydrops fetalis |
ORPHA:584 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Hemob... |
ORPHA:512 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Alg12-Cdg |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, In... |
ORPHA:79324 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Hypophosphatemic rickets, Pallor, Pancre... |
ORPHA:263455 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia |
OMIM:612840 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia, Skeletal muscle atrophy, Increased muscle glycogen content |
ORPHA:371 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... |
ORPHA:98870 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Gastroesophageal reflux, Congenital diaphragmatic hernia, Cleft palate, Pyloric stenosis |
ORPHA:261197 |
Zaki Syndrome |
|
High palate, Congenital diaphragmatic hernia |
OMIM:619648 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Sepsis In Premature Infants |
|
Decreased liver function, Pallor, Petechiae, Splenomegaly, Hepatomegaly, Caesarian section, Eleva... |
ORPHA:90051 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Ventral hernia, Omphalocele, Cleft palate, Pulmonary hypoplasia |
OMIM:313850 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Pallor, Cranial nerve compression |
ORPHA:94080 |
Elliptocytosis 1 |
|
Jaundice, Pallor, Splenomegaly |
OMIM:611804 |
Kcnq2-Related Epileptic Encephalopathy |
|
Cerebral edema, Facial erythema, Pallor |
ORPHA:439218 |
Halperin-Birk Syndrome |
|
Gastroesophageal reflux, Pseudobulbar paralysis, Umbilical hernia, Congenital diaphragmatic herni... |
OMIM:618651 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Omphalocele, Hepatomegaly,... |
OMIM:200995 |
Cimdag Syndrome |
|
Hepatomegaly, Cholelithiasis, Lipodystrophy, Microvesicular hepatic steatosis |
OMIM:619273 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Peripheral pulmonary artery stenosis, Umbilical hernia, Emphysema, Inguinal hernia, Congenital di... |
OMIM:219100 |
8P23.1 Microdeletion Syndrome |
|
Pulmonary artery stenosis, High palate, Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:251071 |
Arterial Tortuosity Syndrome |
|
Bifid uvula, Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia, Hiatus hernia, P... |
OMIM:208050 |
Oculocerebrocutaneous Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:1647 |
Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:613011 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia, Lymphedema, Pleural effusion, Nonimmune hydrops fetalis, Periorbital edema, Peri... |
OMIM:235510 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice, Pallor |
OMIM:613839 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... |
ORPHA:209902 |
Opitz Gbbb Syndrome |
|
Umbilical hernia, Ankyloglossia, Cryptorchidism, Congenital diaphragmatic hernia, Inguinal hernia... |
ORPHA:2745 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Anasarca, Decreased liv... |
OMIM:613658 |
Fetal Alcohol Syndrome |
|
Congenital diaphragmatic hernia, Cleft palate |
ORPHA:1915 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Pleural effusion, Anasarca, Edema |
OMIM:254900 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Cholelithiasis, Enamel hypoplasia, Chronic active hepatitis, Hypoparathyroidi... |
OMIM:240300 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor, Mildly elevated creatine kinase |
ORPHA:536516 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... |
ORPHA:93111 |
Simpson-Golabi-Behmel Syndrome |
|
High, narrow palate, Polysplenia, Supernumerary nipple, Camptodactyly of finger, Umbilical hernia... |
ORPHA:373 |
Fryns Syndrome |
|
Joint contracture of the hand, Chylothorax, Meckel diverticulum, Polysplenia, Intestinal malrotat... |
OMIM:229850 |
Alveolar Echinococcosis |
|
Pulmonary cyst, Biliary cirrhosis, Decreased liver function, Abnormal mesentery morphology, Abnor... |
ORPHA:284 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor, Hepatic cysts |
OMIM:616307 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
White-Sutton Syndrome |
|
Bifid uvula, Gastroesophageal reflux, Congenital diaphragmatic hernia, Facial hypotonia, High pal... |
OMIM:616364 |
Farber Disease |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Ascit... |
ORPHA:333 |
Seckel Syndrome 9 |
|
Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Recurrent respiratory infections |
OMIM:616777 |
Interstitial Lung And Liver Disease |
|
Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Cholestasis, Elevated... |
OMIM:615486 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia, Intrauterine growth retardation, Oligohydramnios, Edema |
OMIM:617729 |
Neonatal Lupus Erythematosus |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt... |
ORPHA:398124 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Skele... |
ORPHA:264580 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Increased placental thickness, Hydrops fetalis, Single umbilical artery, Miscarriage |
ORPHA:1865 |
Abetalipoproteinemia |
|
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase... |
ORPHA:14 |
Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:85166 |
Beta-Ketothiolase Deficiency |
|
Edema, Pallor, Hyperammonemia, Hyperuricemia, Hepatomegaly, Dehydration |
ORPHA:134 |
Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Exocrine pancreatic insufficie... |
OMIM:618268 |
Lymphatic Malformation 13 |
|
Fetal pericardial effusion, Lymphedema, Ascites, Nonimmune hydrops fetalis, Neonatal death, Singl... |
OMIM:620244 |
Caroli Syndrome |
|
Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, He... |
ORPHA:480520 |
Greenberg Dysplasia |
|
Hepatosplenomegaly, Large placenta, Increased nuchal translucency, Pancreatic islet-cell hyperpla... |
OMIM:215140 |
Peutz-Jeghers Syndrome |
|
Intestinal bleeding, Gastrointestinal carcinoma, Bile duct polyp, Ovarian cyst, Biliary tract abn... |
OMIM:175200 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:79124 |
Fetal Cytomegalovirus Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T... |
ORPHA:294 |
White-Sutton Syndrome |
|
Gastroesophageal reflux, Congenital diaphragmatic hernia, Inguinal hernia, Ventral hernia, Abnorm... |
ORPHA:468678 |
Achondrogenesis, Type Ia |
|
Absence of stomach bubble on fetal sonography, Increased nuchal translucency, Stillbirth, Polyhyd... |
OMIM:200600 |
Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... |
OMIM:613027 |
Thakker-Donnai Syndrome |
|
Anal atresia, Rectovaginal fistula, Congenital diaphragmatic hernia, Tracheoesophageal fistula |
ORPHA:1780 |
Mosaic Trisomy 9 |
|
Intrauterine growth retardation, Oligohydramnios, Single umbilical artery, Polyhydramnios, Asplen... |
ORPHA:99776 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Recurrent upper and lower respiratory tract infections |
ORPHA:171876 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia, Pulmonary ... |
OMIM:620365 |
Trisomy 18 |
|
Camptodactyly of finger, Cryptorchidism, Congenital diaphragmatic hernia, Hernia, Anal atresia, E... |
ORPHA:3380 |
Holoprosencephaly |
|
Gastroesophageal reflux, Panhypopituitarism, Abnormality of the spleen, Median cleft palate, Cryp... |
ORPHA:2162 |
Gm1 Gangliosidosis |
|
Optic atrophy, Hepatosplenomegaly, Splenomegaly, Hydrops fetalis, Premature birth |
ORPHA:354 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... |
OMIM:185000 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Pallor, Hep... |
ORPHA:348 |
Felty Syndrome |
|
Cellulitis, Recurrent pneumonia, Abnormal lymphocyte morphology, Splenomegaly, Recurrent pharyngi... |
ORPHA:47612 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hepatic fibrosis, Hydrops fetalis |
OMIM:614091 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Lower-limb joint contracture, Reduced pancreatic beta cells, Arthrogryposis multiplex congenita, ... |
ORPHA:99885 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Lathosterolosis |
|
Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase conce... |
OMIM:607330 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hepatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus, Eosinophilia, Coombs-... |
OMIM:304790 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth |
OMIM:269250 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure |
OMIM:614886 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Phoar2-Enteropathy Syndrome |
|
Hypoalbuminemia |
OMIM:614441 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor, Increased total bilirubin |
ORPHA:90036 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Skin ulcer, Hepatosplenomegaly, Hypersplenism, Pallor, Splenomegaly, Jaundice, ... |
ORPHA:231226 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Denys-Drash Syndrome |
|
Ovarian gonadoblastoma, Congenital diaphragmatic hernia, Neonatal death, Posterolateral diaphragm... |
OMIM:194080 |
Smith-Lemli-Opitz Syndrome |
|
Pyloric stenosis, Gastroesophageal reflux, Microglossia, Abnormal lung lobation, Abnormal dental ... |
ORPHA:818 |
Craniorachischisis |
|
Anal atresia, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:63260 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating hepatic transaminase concentration, Pancreatic hypoplasia, Exocrine pancreat... |
OMIM:137920 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Dysphagia, Congenital diaphragmatic hernia, Joint contracture |
OMIM:615919 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated circulating hepatic transaminase concentration, Edema, Pallor, Hyperammonemia, Hyperuric... |
ORPHA:20 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Cholestasis, Villous atrophy, Increased intestinal transit tim... |
OMIM:619377 |
Meckel Syndrome, Type 3 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatomegaly, Bile duct proliferation... |
OMIM:607361 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... |
OMIM:607626 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:616649 |
Wolf-Hirschhorn Syndrome |
|
Abdominal situs inversus, Abnormality of the gallbladder, Cryptorchidism, Congenital diaphragmati... |
ORPHA:280 |
Lethal Congenital Contracture Syndrome 10 |
|
Fetal akinesia sequence, Intrauterine growth retardation, Hydrops fetalis, Oligohydramnios |
OMIM:617022 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Dermal translucency, Nonimmune hydrops fetalis, Lymphedema |
OMIM:137940 |
Ring Chromosome 13 Syndrome |
|
High palate, Anal atresia, Hypoplasia of the gallbladder |
ORPHA:96176 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis |
OMIM:607823 |
Fumarase Deficiency |
|
Optic atrophy, Intrahepatic cholestasis, Hepatic failure, Ascites, Hyperbilirubinemia, Pallor, Bi... |
OMIM:606812 |
Fraser Syndrome 3 |
|
Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Sonographic non-visualized fetal bladder, St... |
OMIM:617667 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Elbow flexion contracture, Congenital diaphragmatic hernia, Inguinal hernia, Cardiomegaly, Left v... |
OMIM:245600 |
Pearson Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypomagnesemia, Exocrin... |
ORPHA:699 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor, Increased circulating ferritin concentration |
OMIM:600462 |
Spherocytosis, Type 4 |
|
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Supernumerary nipple, Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia, Cryptor... |
OMIM:618454 |
Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia, Optic atrophy, Intrauterine growth retardation, Oligohydramnios |
OMIM:251300 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Sp... |
ORPHA:2072 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Elevated circulating hepatic transaminase concentration, Persistence of hemo... |
OMIM:260400 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Pallor |
ORPHA:99931 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Skeletal muscle atroph... |
ORPHA:79240 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Elevated circulating palmitoleylcarnitine concentration, Intrauterine growth retar... |
ORPHA:79282 |
Galactosialidosis |
|
Hepatosplenomegaly, Nonimmune hydrops fetalis |
OMIM:256540 |
Oligomeganephronia |
|
Congenital diaphragmatic hernia, Pulmonary venous occlusion, Pulmonary hypoplasia |
ORPHA:2260 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatitis, Hypomagnesem... |
ORPHA:37042 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Thrombocytopenia, ... |
OMIM:617941 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Tendon xanthomatosis, Lower limb muscle weakness, Pseudobulbar paralysis |
OMIM:213700 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Fetal polyuria, Hypokalemia, Hyponatremia, Polyhydramnios, Hydrops fetalis, Hyp... |
OMIM:602522 |
Cranioectodermal Dysplasia 2 |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Poly... |
OMIM:613610 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Plummer-Vinson Syndrome |
|
Pallor, Decreased circulating ferritin concentration |
ORPHA:54028 |
Meckel Syndrome, Type 7 |
|
Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, Right ventricular hypert... |
OMIM:267010 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Inguinal hernia, Aganglionic megacolon, Anemia, Recurrent respiratory infections, Ab... |
ORPHA:935 |
Fibrochondrogenesis 1 |
|
Hydrops fetalis, Stillbirth |
OMIM:228520 |
Combined Oxidative Phosphorylation Deficiency 59 |
|
Cholelithiasis |
OMIM:620646 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Elbow flexion contracture, Congenital diaphragmatic hernia |
OMIM:618022 |
Gaucher Disease |
|
Splenic infarction, Cholelithiasis, Hepatic failure, Arthrogryposis multiplex congenita, Hepatiti... |
ORPHA:355 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Skin ulcer, Hepatosplenomegaly, Hypersplenism, Pallor, Splenomegaly, Jaundice, ... |
ORPHA:231214 |
Omenn Syndrome |
|
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Thrombocyt... |
OMIM:603554 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Myositis, Hep... |
OMIM:617591 |
Kawasaki Disease |
|
Hypoalbuminemia, Hepatitis, Cholecystitis, Palmoplantar erythema, Scaling skin on fingertip, Elev... |
ORPHA:2331 |
Craniofrontonasal Syndrome |
|
Umbilical hernia, Breast hypoplasia, Congenital diaphragmatic hernia, Cryptorchidism, Unilateral ... |
OMIM:304110 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Intrauterine growth retardation, Abnormal placenta morphology, Hydrops fetalis |
ORPHA:79255 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Fetal distress, Death in infancy, Microvesicular hepatic steatosis, Bilateral fetal pyelectasis, ... |
OMIM:300868 |
Limb Body Wall Complex |
|
Abnormality of the liver, Diastasis recti, Congenital diaphragmatic hernia, Abnormal intestine mo... |
ORPHA:2369 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... |
ORPHA:731 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Jaundice, Pallor, Splenomegaly |
ORPHA:90033 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia, Total anomalous pulmonary venous return |
OMIM:618313 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Interstitial pneumoniti... |
ORPHA:77293 |
Waldenström Macroglobulinemia |
|
Pallor, Pleural effusion, Splenomegaly, Hepatomegaly, Periorbital edema, Purpura, Pedal edema |
ORPHA:33226 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
High, narrow palate, Cholelithiasis, Recurrent pneumonia, Furrowed tongue, Contracture of the pro... |
ORPHA:464738 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Elbow flexion contracture, Congenital diaphragmatic hernia, High palate, Narrow pa... |
OMIM:200980 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Bone Marrow Failure Syndrome 5 |
|
Oral leukoplakia, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Pulmonary fibrosis, Testic... |
OMIM:618165 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Congenital diaphragmatic ... |
OMIM:312870 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Congenital pulmonary airway malformation, Hepatitis, Jejunoileal ulceration, ... |
ORPHA:436252 |
Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Abnormal pulmo... |
OMIM:230800 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hamartoma of tongue, Congenital diaphragmatic hernia, Cleft palate, Pulmonary hypoplasia |
OMIM:616546 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Nonimmune hydrops fetalis |
OMIM:618265 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Pallor, Optic nerve hypoplasia |
OMIM:609053 |
Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Hepatic failure, Gastrointestinal hemorrhage, Tongue telangiectasia, Portal hyper... |
ORPHA:774 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... |
OMIM:615895 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Cholelithiasis, Umbilical hernia, Hepatosplenomegaly, Cholecystitis, Hepatomegaly, Cleft palate |
OMIM:301066 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Congenital contracture, Cardiomegaly, Facial hypotonia, Recurre... |
ORPHA:97297 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Pancreatitis, Stea... |
OMIM:167800 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia, Panniculitis |
OMIM:618398 |
Diets-Jongmans Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia, Cryptorchidism, Duodenal atresia |
OMIM:618846 |
Osteogenesis Imperfecta, Type Ii |
|
Premature birth, Nonimmune hydrops fetalis |
OMIM:166210 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cholestasis, Hyperbilirubinemia, Congenital hepatic fibrosis, Neonatal death, Cirrhosis, Elevated... |
OMIM:619534 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... |
ORPHA:71275 |
Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Cholestatic liver disease, Hypocholesterolemia, Intrauterine growth retardation,... |
OMIM:270400 |
46,Xx Sex Reversal 5 |
|
Aplasia of the left hemidiaphragm |
OMIM:618901 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Myopathy, Neutropenia, Hepatomegaly, Recurrent l... |
OMIM:612541 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Congenital diaphragmatic herni... |
OMIM:614437 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Pallor |
OMIM:246400 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Decreased liver function, Hepatosplenomegal... |
ORPHA:85450 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Pulmonary artery hypoplasia, Diaphragmatic eventration, Cryptorchidism, Aortopulmonary window, He... |
OMIM:620025 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... |
ORPHA:89842 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Nonimmune hydrops fetalis |
OMIM:618052 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis,... |
OMIM:618849 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Increased mean corpuscular volume, Aplastic anemia, Oral leukoplakia, Lymphopenia, Leukopenia, He... |
OMIM:127550 |
Poland Syndrome |
|
Acute leukemia, Abnormality of the liver, Absence of subcutaneous fat, Congenital diaphragmatic h... |
ORPHA:2911 |
Senior-Boichis Syndrome |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... |
ORPHA:84081 |
Congenital Myopathy 22B, Severe Fetal |
|
Ascites, Pleural effusion, Decreased fetal movement, Nonimmune hydrops fetalis, Hepatomegaly, Bre... |
OMIM:620369 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Hydrops fetalis, Splenomegaly |
OMIM:253220 |
Digeorge Syndrome |
|
Hepatic steatosis, Ovarian cyst, High palate, High, narrow palate, Cholelithiasis, Gastroesophage... |
OMIM:188400 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Anteriorly placed anus, Colonic atresia, Congenital diaphragmatic hernia, Anal atresia, Cleft palate |
OMIM:309801 |
Aymé-Gripp Syndrome |
|
Breast hypoplasia, Congenital diaphragmatic hernia, Cryptorchidism, Inguinal hernia, Camptodactyl... |
ORPHA:1272 |
Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral... |
OMIM:301068 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Tafro Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pleural effusion, Hepatomegaly, Thrombocytopenia,... |
ORPHA:457077 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Hypernatremia |
OMIM:615508 |
Transcobalamin Ii Deficiency |
|
Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reticulocytopenia, Neutropen... |
OMIM:275350 |
Alg9-Cdg |
|
Periportal fibrosis, Oligohydramnios, Hepatic cysts, Decreased fetal movement, Hepatomegaly, Thic... |
ORPHA:79328 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Loeys-Dietz Syndrome 6 |
|
Bifid uvula, Spontaneous pneumothorax, Broad uvula, Umbilical hernia, Congenital diaphragmatic he... |
OMIM:619656 |
7Q11.23 Microduplication Syndrome |
|
High palate, Congenital diaphragmatic hernia, Cryptorchidism, Inguinal hernia |
ORPHA:96121 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Exocrine pancrea... |
OMIM:617052 |
Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Elevated circulating cr... |
ORPHA:99826 |
Meckel Syndrome, Type 2 |
|
Intestinal malrotation, Omphalocele, Bile duct proliferation, Cleft palate |
OMIM:603194 |
Hereditary Mixed Polyposis Syndrome |
|
Hematochezia, Colon cancer, Adenomatous colonic polyposis, Duodenal adenocarcinoma, Hyperplastic ... |
ORPHA:157794 |
Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Hypotriglyceridemia, Biliary cirrhosis, Abnormal circulating lipid concentration... |
ORPHA:2298 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Optic atrophy, Hepatosplenomegaly |
ORPHA:505248 |
Hennekam Syndrome |
|
Chylothorax, Lymphedema, Ascites, Hypocalcemia, Splenomegaly, Pericardial effusion, Hydrops fetalis |
ORPHA:2136 |
Mycophenolate Mofetil Embryopathy |
|
Tracheoesophageal fistula, Congenital diaphragmatic hernia |
ORPHA:268249 |
Hemochromatosis, Type 5 |
|
Anemia, Elevated hepatic iron concentration |
OMIM:615517 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Pallor, Cranial nerve compression |
ORPHA:276621 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... |
ORPHA:329971 |
Distal Deletion 15Q |
|
Congenital diaphragmatic hernia, Cryptorchidism, Bifid tongue, Cleft palate, Pulmonary hypoplasia |
ORPHA:1596 |
Sandifer Syndrome |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Torticollis, Anemia |
ORPHA:71272 |
22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Gastroesophageal reflux, Gastrointestinal hemorrhage, Atelectasis, Abnormal lung ... |
ORPHA:567 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Pallor |
ORPHA:331206 |
Aceruloplasminemia |
|
Abnormal pancreas morphology, Elevated hepatic iron concentration, Hypochromic microcytic anemia,... |
ORPHA:48818 |
17Q12 Microdeletion Syndrome |
|
Elevated circulating hepatic transaminase concentration, Cryptorchidism, Pancreatic aplasia |
ORPHA:261265 |
Familial Adenomatous Polyposis |
|
Abnormal cementum morphology, Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Adenomatous c... |
ORPHA:733 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor, Elevated circulating creatine kinase concentration |
OMIM:617675 |
Iniencephaly |
|
Congenital diaphragmatic hernia, Omphalocele, Anal atresia, Arthrogryposis multiplex congenita, D... |
ORPHA:63259 |
Gaucher Disease, Type Ii |
|
Bronchiolitis, Gastroesophageal reflux, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Rec... |
OMIM:230900 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Monosomy 9P |
|
Congenital diaphragmatic hernia, Cryptorchidism, Hernia, High palate, Cleft palate |
ORPHA:261112 |
Fetal Akinesia Deformation Sequence 1 |
|
Small placenta, Intrauterine growth retardation, Increased nuchal translucency, Short umbilical c... |
OMIM:208150 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Erythema |
ORPHA:79396 |
Adenohypophysitis |
|
Hyponatremia, Pallor, Orthostatic hypotension |
ORPHA:95512 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Inflammation of the large intestine, Elevated circulating hepatic tran... |
ORPHA:562639 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hepatic sinusoidal dilatation, Splenic cyst, Pancreatitis, Cerebral edema, Hydrops fetalis |
OMIM:620371 |
Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... |
OMIM:210250 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Intrauterine growth retardation, Pallor, Increased erythrocyte protoporphyrin concentration |
OMIM:301310 |
Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Hypokalemia |
OMIM:174900 |
Pseudoaminopterin Syndrome |
|
Inguinal hernia, Cryptorchidism, Asplenia, High palate, Posterolateral diaphragmatic hernia |
ORPHA:221120 |
Steinert Myotonic Dystrophy |
|
Abnormality of the tongue muscle, Cholelithiasis, Elevated circulating hepatic transaminase conce... |
ORPHA:273 |
Panhypophysitis |
|
Hyponatremia, Pallor, Orthostatic hypotension |
ORPHA:95513 |
Kabuki Syndrome |
|
High palate, Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate |
ORPHA:2322 |
Coffin-Siris Syndrome 1 |
|
Umbilical hernia, Intestinal malrotation, Cryptorchidism, Congenital diaphragmatic hernia, Inguin... |
OMIM:135900 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Chylothorax, Nonimmune hydrops fetalis, Lymphedema |
OMIM:153400 |
Feingold Syndrome |
|
Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia |
ORPHA:1305 |
Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Diastasis recti, Cryptorchidism, Cardiomegaly, Hepatoblastoma, Omphalocel... |
OMIM:130650 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... |
ORPHA:537 |
Gaucher Disease Type 3 |
|
Pericardial effusion, Hepatomegaly, Hydrops fetalis, Splenomegaly |
ORPHA:77261 |
Focal Dermal Hypoplasia |
|
Anteriorly placed anus, Supernumerary nipple, Intestinal malrotation, Umbilical hernia, Diastasis... |
OMIM:305600 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Tendon xanthomatosis, Distal amyotrophy, Abnormality of the Achilles tendon, Prol... |
ORPHA:909 |
Juvenile Polyposis Syndrome |
|
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple lipomas, Small intestinal polyposis... |
ORPHA:2929 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal dental enamel morphology, Abnormal rectum morphology, Congenital diaphragmatic hernia, A... |
ORPHA:2556 |
Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Congenital diaphragmatic hernia, Velopharyngeal insufficiency, Cleft palate |
OMIM:154400 |
Mgat2-Cdg |
|
Hydrops fetalis |
ORPHA:79329 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Hydrops fetalis, Pancreatic fibrosis |
OMIM:263520 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Gastroesophageal reflux, Contracture of the proximal interphalangeal joint of the 3rd finger, Con... |
OMIM:301044 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Jaundice, Congenital hypoplastic anemia, Anemia of inadequate production |
OMIM:105600 |
C Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall muscula... |
ORPHA:1308 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia, Pallor, Cranial nerve compression |
ORPHA:29072 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Cystathioninemia, Pallor, Hypomethioninemia, Hyperhomocystinemia, Hepatomegaly, Methylmalonic aci... |
OMIM:277400 |
Tyrosinemia, Type I |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Gastrointestinal hemorr... |
OMIM:276700 |
Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Spl... |
OMIM:232220 |
Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Angioedema, Hepatosplen... |
ORPHA:3260 |
Sheehan Syndrome |
|
Hyponatremia, Dry skin, Pallor, Orthostatic hypotension |
ORPHA:91355 |
Niemann-Pick Disease Type C |
|
Fetal ascites, Hepatic failure, Ascites, Hepatosplenomegaly, Abnormality of the liver, Splenomega... |
ORPHA:646 |
Mullegama-Klein-Martinez Syndrome |
|
Bifid uvula, Submucous cleft of soft and hard palate, Congenital diaphragmatic hernia, Facial pal... |
OMIM:301022 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Skeletal muscle fibrosis,... |
OMIM:616263 |
Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Hydrops fetalis, Premature birth |
ORPHA:50945 |
Infection-Related Hemolytic Uremic Syndrome |
|
Generalized edema, Edema, Pallor, Hypocalcemia, Hyponatremia, Pancreatitis, Hyperkalemia, Pleural... |
ORPHA:544482 |
Cornelia De Lange Syndrome |
|
Gastroesophageal reflux, Volvulus, Intestinal malrotation, Cryptorchidism, Congenital diaphragmat... |
ORPHA:199 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatitis, Hypersplenism, Splenomegaly, Hepatomegaly, Hydrops fetalis, Hepatocellular carcinoma |
ORPHA:3261 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Neonatal death, Pulmonary lymphangiectasia, Anal atresia, D... |
OMIM:265380 |
Alternating Hemiplegia Of Childhood |
|
Pallor, Dehydration, Abnormal autonomic nervous system physiology |
ORPHA:2131 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hypoalbuminemia, Hepatitis, Joint swelling, Splenomegaly, Elevated circulating C-reactive protein... |
OMIM:619381 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Congenital diaphragmatic hernia, Cryptorchidism |
OMIM:617641 |
Phocomelia, Schinzel Type |
|
Intrauterine growth retardation, Hydrops fetalis |
ORPHA:2879 |
Neuroblastoma |
|
Anemic pallor, Horner syndrome, Increased circulating ferritin concentration |
ORPHA:635 |
Alkaptonuria |
|
Black pigment gallstones, Thickened Achilles tendon, Methemoglobinemia, Tendon rupture, Hemolytic... |
ORPHA:56 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hepatic fibrosis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Recurrent respiratory i... |
OMIM:208500 |
Atelosteogenesis Type I |
|
Pulmonary hypoplasia, Malrotation of colon, Cleft palate, Abnormal pancreatic duct morphology |
ORPHA:1190 |
Noonan Syndrome 2 |
|
Increased nuchal translucency, Redundant neck skin, Nonimmune hydrops fetalis, Palmoplantar cutis... |
OMIM:605275 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hematochezia, Gastrointestinal carcinoma, Juvenile gastrointestinal polyposis, Pulmonary arteriov... |
OMIM:175050 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Pallor, Splenomegaly |
ORPHA:98849 |
Multiple Endocrine Neoplasia Type 2 |
|
Ganglioneuromatosis, Pallor, Aganglionic megacolon, Neoplasm of the liver, Hypercalcemia |
ORPHA:653 |
Histiocytoid Cardiomyopathy |
|
Pulmonary edema, Optic atrophy, Pallor, Hepatomegaly |
ORPHA:137675 |
Congenital Erythropoietic Porphyria |
|
Abnormal circulating porphyrin concentration, Splenomegaly, Reduced haptoglobin level, Nonimmune ... |
ORPHA:79277 |
Capillary Malformation-Arteriovenous Malformation |
|
Chylothorax, Nonimmune hydrops fetalis, Lymphedema |
ORPHA:137667 |
Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... |
ORPHA:449432 |
Pituitary Apoplexy |
|
Hyponatremia, Pallor |
ORPHA:95613 |
Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia |
ORPHA:79076 |
Hepatoerythropoietic Porphyria |
|
Abnormal circulating porphyrin concentration, Splenomegaly, Nonimmune hydrops fetalis, Abnormalit... |
ORPHA:95159 |
Degcags Syndrome |
|
Cholestasis, Intrauterine growth retardation, Hyperbilirubinemia, Pallor, Hepatosplenomegaly, Hep... |
OMIM:619488 |
Von Hippel-Lindau Disease |
|
Macular edema, Pallor, Pancreatic islet cell adenoma, Papilledema, Pancreatic cysts, Neoplasm of ... |
ORPHA:892 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... |
ORPHA:103918 |
Igg4-Related Thyroid Disease |
|
Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Pancreatic fibrosis, Abnormal pit... |
ORPHA:64744 |
Cardiospondylocarpofacial Syndrome |
|
Decreased testicular size, Gastroesophageal reflux, Congenital diaphragmatic hernia |
OMIM:157800 |
Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
Autosomal Recessive Malignant Osteopetrosis |
|
Optic nerve compression, Pallor, Hypocalcemia, Splenomegaly, Hypophosphatemia, Hepatomegaly |
ORPHA:667 |
Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Ascites, Peripheral edema, Splenomegaly, Hepatomegaly, Pedal edema |
ORPHA:75565 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Pallister-Killian Syndrome |
|
Bifid uvula, Anal stenosis, Camptodactyly of 2nd-5th fingers, Anteriorly placed anus, Supernumera... |
OMIM:601803 |
Witteveen-Kolk Syndrome |
|
High, narrow palate, Gastroesophageal reflux, Decreased response to growth hormone stimulation te... |
OMIM:613406 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Tracheoesophageal fist... |
OMIM:227646 |
Yellow Fever |
|
Pancreatic hyperplasia, Elevated circulating aspartate aminotransferase concentration, Leukocytos... |
ORPHA:99829 |
Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... |
ORPHA:2330 |
Incontinentia Pigmenti |
|
Optic atrophy, Pallor, Erythema |
OMIM:308300 |
Williams Syndrome |
|
Cholelithiasis, Peripheral pulmonary artery stenosis, Gastroesophageal reflux, Peptic ulcer, Colo... |
ORPHA:904 |
Yunis-Varon Syndrome |
|
Polyhydramnios, Hydrops fetalis, Redundant neck skin, Increased nuchal translucency |
ORPHA:3472 |
Generalized Arterial Calcification Of Infancy |
|
Fetal distress, Ascites, Hypophosphatemic rickets, Pancreatic calcification, Hepatic calcificatio... |
ORPHA:51608 |
Esophageal Atresia |
|
Polyhydramnios, Absence of stomach bubble on fetal sonography, Pallor |
ORPHA:1199 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia, Erythema |
OMIM:614748 |
Cardiac Valvular Dysplasia 1 |
|
Hydrops fetalis, Edema |
OMIM:212093 |
Diamond-Blackfan Anemia |
|
Pallor, Nonimmune hydrops fetalis |
ORPHA:124 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Abnormal lung lobation, Adrenal gland dysgenesis, Agenesis of the diaphragm, Om... |
OMIM:236680 |
Feingold Syndrome 1 |
|
Accessory spleen, Annular pancreas, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esop... |
OMIM:164280 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis, Pulmonary hypoplasia |
OMIM:615503 |
Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia, Pericardial effusion, Pallor |
ORPHA:91347 |
Diamond-Blackfan Anemia 1 |
|
Intrauterine growth retardation, Pallor, Premature birth |
OMIM:105650 |
Fanconi Anemia, Complementation Group C |
|
Intrauterine growth retardation, Anemic pallor |
OMIM:227645 |
Meckel Syndrome |
|
Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Cryptorchidism, Congenital h... |
ORPHA:564 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Optic atrophy, Pallor, Elevated circulating creatine kinase concentration |
OMIM:253280 |
Metachromatic Leukodystrophy, Adult Form |
|
Neoplasm of the gallbladder, Cholecystitis |
ORPHA:309271 |
Peters-Plus Syndrome |
|
Anteriorly placed anus, Umbilical hernia, Diastasis recti, Cryptorchidism, Biliary tract abnormal... |
OMIM:261540 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor |
OMIM:600901 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Aplasia of the right hemidiaphragm, Ankyloglossia, Cryptorchidism, Limb hypertonia, Anterior pitu... |
OMIM:619841 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor |
OMIM:227650 |
Pmm2-Cdg |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Anasa... |
ORPHA:79318 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hydrops fetalis, Congenital hepatic fibrosis |
ORPHA:93271 |
Yunis-Varon Syndrome |
|
Intrauterine growth retardation, Redundant neck skin, Polyhydramnios, Hydrops fetalis, Premature ... |
OMIM:216340 |
Goodpasture Syndrome |
|
Pallor, Increased blood urea nitrogen |
OMIM:233450 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Low 5-minute APGAR score, Low 1-minute APGAR score, Pallor |
ORPHA:99125 |