Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
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Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... |
OMIM:619462 |
Nuchal Bleb, Familial |
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Stillbirth, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Mitchell-Riley Syndrome |
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Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... |
OMIM:615710 |
Fetal Cytomegalovirus Syndrome |
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Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Martinez-Frias Syndrome |
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Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
Hemochromatosis, Neonatal |
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Nonimmune hydrops fetalis, Increased circulating ferritin concentration, Cholestasis, Hepatocellu... |
OMIM:231100 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Biliary Atresia, Extrahepatic |
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Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Alpha-Thalassemia |
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Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Diamond-Blackfan Anemia 19 |
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Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Pentalogy Of Cantrell |
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Omphalocele, Absent gallbladder, Congenital diaphragmatic hernia, Cleft palate, Pulmonary hypopla... |
ORPHA:1335 |
Microphthalmia, Syndromic 12 |
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Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, Pulmonary ... |
OMIM:615524 |
Congenital Alveolar Capillary Dysplasia |
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Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... |
ORPHA:210122 |
Protoporphyria, Erythropoietic, X-Linked |
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Elevated hepatic transaminase, Cholelithiasis, Iron deficiency anemia |
OMIM:300752 |
Fetal Parvovirus Syndrome |
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Intrauterine growth retardation, Increased nuchal translucency, Ascites, Hydrops fetalis |
ORPHA:295 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
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Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
Meckel Syndrome, Type 6 |
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Absent gallbladder, Bilobed right lung, Cleft palate, Cystic liver disease, Bile duct proliferati... |
OMIM:612284 |
Nephrotic Syndrome, Type 2 |
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Hyperlipidemia, Hypoalbuminemia, Edema |
OMIM:600995 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
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Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... |
OMIM:613752 |
Pancreatic Colipase Deficiency |
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Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... |
ORPHA:309108 |
Cardiomyopathy, Familial Restrictive, 6 |
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Hepatomegaly, Death in infancy, Hydrops fetalis, Ascites, Portal vein hypoplasia |
OMIM:619433 |
Hydrops Fetalis, Nonimmune |
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Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Hemoglobin D Disease |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Splenomegaly, Hepatomegaly, Pallor |
ORPHA:46532 |
Congenital Lethal Erythroderma |
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Death in infancy, Dry skin, Hypoalbuminemia |
ORPHA:1954 |
Transient Erythroblastopenia Of Childhood |
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Transient erythroblastopenia, Anemia |
OMIM:227050 |
Transaldolase Deficiency |
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Edema, Hydrops fetalis, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Cirrhos... |
ORPHA:101028 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
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Hyperalaninemia, Redundant neck skin, Nonimmune hydrops fetalis, Hyperprolinemia, Neonatal death,... |
OMIM:619003 |
Erythroderma, Lethal Congenital |
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Death in infancy, Hypoalbuminemia |
OMIM:227090 |
Lymphatic Malformation 8 |
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Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
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Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:613124 |
Analbuminemia |
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Edema, Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, H... |
OMIM:616000 |
Hb Bart'S Hydrops Fetalis |
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Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Pallor, Oligohydramnios |
ORPHA:163596 |
Matthew-Wood Syndrome |
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Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of ... |
ORPHA:2470 |
Diarrhea 13 |
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Elevated hepatic transaminase, Hepatic steatosis, Hypoalbuminemia |
OMIM:620357 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia, Abnormality of the diaphrag... |
OMIM:601163 |
Lymphatic Malformation 12 |
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Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... |
OMIM:620014 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... |
OMIM:235700 |
Hernia, Anterior Diaphragmatic |
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Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
Developmental And Epileptic Encephalopathy 96 |
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Death in infancy, Hydrops fetalis |
OMIM:619340 |
Pyruvate Kinase Deficiency Of Red Cells |
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Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Jaundice, Cholecystitis, Unconjugated hype... |
OMIM:266200 |
Isolated Biliary Atresia |
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Elevated hepatic transaminase, Hepatomegaly, Hypopituitarism, Atretic gallbladder, Splenomegaly, ... |
ORPHA:30391 |
Congenital Disorder Of Glycosylation, Type Ik |
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Hepatomegaly, Death in infancy, Nonimmune hydrops fetalis, Splenomegaly, Abnormality of the amnio... |
OMIM:608540 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Death in infancy, Elevated circulating aspartate aminotransferase concentration, Nonimmune hydrop... |
OMIM:617049 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Absent gallbladder, Inguinal hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Pul... |
OMIM:600001 |
Nephrotic Syndrome, Type 9 |
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Hypoalbuminemia, Edema |
OMIM:615573 |
Focal Segmental Glomerulosclerosis 6 |
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Hypoalbuminemia, Edema |
OMIM:614131 |
Focal Segmental Glomerulosclerosis 1 |
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Edema, Hyperlipidemia, Hypoalbuminemia, Pleural effusion, Ascites |
OMIM:603278 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Congenital Disorder Of Glycosylation, Type Ih |
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Hepatomegaly, Decreased fetal movement, Death in infancy, Edema, Elevated circulating creatinine ... |
OMIM:608104 |
Congenital Diaphragmatic Hernia |
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Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Intestinal malrotation, Congenital dia... |
ORPHA:2140 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Nonimmune hydrops fetalis, Portal hypertension, Poly... |
ORPHA:367 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
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Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Peripheral Cone Dystrophy |
|
Optic disc pallor, Optic atrophy, Pallor |
OMIM:609021 |
Coenzyme Q10 Deficiency, Primary, 3 |
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Hypoalbuminemia, Edema |
OMIM:614652 |
Reticuloendotheliosis, X-Linked |
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Jaundice, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Beta-Thalassemia |
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Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
Autosomal Erythropoietic Protoporphyria |
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Cholelithiasis, Decreased liver function, Cirrhosis, Microcytic anemia |
ORPHA:79278 |
Diffuse Neonatal Hemangiomatosis |
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Hepatomegaly, Premature birth, Hypercalcemia, Polyhydramnios, Hydrops fetalis, Ascites |
ORPHA:2123 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
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Splenomegaly, Hepatomegaly, Hydrops fetalis, Polyhydramnios |
ORPHA:2204 |
Congenital Analbuminemia |
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Premature birth, Miscarriage, Edema, Facial edema, Hyperlipidemia, Pedal edema, Increased alpha-g... |
ORPHA:86816 |
Congenital Enterocyte Heparan Sulfate Deficiency |
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Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... |
ORPHA:103910 |
Dehydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei... |
ORPHA:3202 |
Sickle Cell Anemia |
|
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia, Abnormality of the spleen, Anorectal anomaly, Trach... |
ORPHA:1834 |
Congenital Atransferrinemia |
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Abnormality of the pancreas, Anemia |
ORPHA:1195 |
Hereditary Continuous Muscle Fiber Activity |
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Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Hemoglobin H Disease |
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Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
8p23.1 deletion syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia |
DECIPHER:39 |
Gallbladder Disease 1 |
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Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Glycogen Storage Disease Vii |
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Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra... |
OMIM:232800 |
Cyanosis, Transient Neonatal |
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Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Glycogen Storage Disease Xii |
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Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... |
OMIM:611881 |
Fetal Gaucher Disease |
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Hepatomegaly, Decreased fetal movement, Death in infancy, Fetal akinesia sequence, Splenomegaly, ... |
ORPHA:85212 |
Infantile Sialic Acid Storage Disease |
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Hepatomegaly, Premature birth, Conjugated hyperbilirubinemia, Splenomegaly, Hydrops fetalis, Deat... |
OMIM:269920 |
Achondrogenesis, Type Ib |
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Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth |
OMIM:600972 |
Glycogen Storage Disease Iv |
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Decreased fetal movement, Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Hepatosple... |
OMIM:232500 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Congenital Heart Block |
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Premature birth, Pericardial effusion, Hydrops fetalis, Peripheral edema, Vaginal birth after Cae... |
ORPHA:60041 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Beta-Thalassemia Intermedia |
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Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... |
ORPHA:231222 |
Chondrodysplasia, Blomstrand Type |
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Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth |
OMIM:215045 |
Benign Recurrent Intrahepatic Cholestasis |
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Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Death in infancy, Premature birth, Nonimmune hydrops fetalis, Elevated circulating creatine kinas... |
OMIM:618835 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
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Omphalocele, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2141 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Hemolytic anemia |
OMIM:177000 |
Combined Oxidative Phosphorylation Deficiency 42 |
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Death in infancy, Premature birth, Nonimmune hydrops fetalis, Elevated circulating creatine kinas... |
OMIM:618839 |
Hepatoportal Sclerosis |
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Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Hydr... |
ORPHA:766 |
Diaphragmatic Hernia, Congenital |
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Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
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Congenital diaphragmatic hernia |
OMIM:610187 |
Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia, Malabsorption |
ORPHA:99811 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Indomethacin Embryofetopathy |
|
Premature birth, Hydrops fetalis, Oligohydramnios |
ORPHA:1909 |
Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Pulmon... |
ORPHA:3032 |
Fetal Encasement Syndrome |
|
Omphalocele, Bilateral trilobed lung, Congenital diaphragmatic hernia |
OMIM:613630 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Congenital Enterovirus Infection |
|
Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Pericardial effusion, H... |
ORPHA:292 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Edema, Hepatic fibrosis, Decreased liver function, Hypoalbumin... |
ORPHA:79319 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Exocrine pancreatic insufficiency, Pulmo... |
ORPHA:2255 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Death in infancy, Hypertyrosinemia, Polyhydramnios, Conjugated hyp... |
OMIM:617156 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Flexion contracture, Abnormal lung lobation, Peripo... |
OMIM:263210 |
Hydrops Fetalis |
|
Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Ascites... |
ORPHA:1041 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Flexion contracture, Congenital diaphragmatic hernia |
ORPHA:171719 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Edema, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Death in childhood, Hepatic fa... |
OMIM:602579 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... |
OMIM:615631 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Hypoalbuminemia, Pallor |
ORPHA:507 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia, Edema |
OMIM:610725 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia, Pedal edema |
ORPHA:84090 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor, Abnormality of iron homeostasis |
ORPHA:75563 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Pulmonary hypopla... |
OMIM:617925 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, High palate, Pancreatic aplasia |
ORPHA:556955 |
Alg8-Cdg |
|
Elevated hepatic transaminase, Hyponatremia, Premature birth, Edema, Optic atrophy, Hydrops fetal... |
ORPHA:79325 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of the pulmonary artery, Cleft palate |
ORPHA:1166 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Exocrine pancreatic insufficiency, Elevated circulating alanine aminotransfer... |
OMIM:618500 |
Dextrocardia |
|
Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormal lung lobation, A... |
ORPHA:1666 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic... |
OMIM:619013 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Nonimmune hydrops fetalis, Fetal pericardial effusion, Hypoalbuminemia, Decreased liver function,... |
OMIM:617021 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Anemia |
ORPHA:100025 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia |
ORPHA:261102 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia, Edema |
OMIM:614196 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Congenital diaphragmatic hernia |
OMIM:614100 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia, Hepat... |
OMIM:618805 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Death in infancy, Hydrops fetalis, Fetal akinesia sequence |
OMIM:618815 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Microvesicu... |
OMIM:613070 |
Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites |
ORPHA:87876 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites |
ORPHA:2414 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Cleft palate, Anemia, Thrombocytopenia |
ORPHA:163979 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno... |
ORPHA:822 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... |
OMIM:617093 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Pulmo... |
ORPHA:2847 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Skeletal muscle atrophy, Splenomegaly, Ja... |
OMIM:615512 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Skin ulcer, Ascites |
ORPHA:834 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto... |
OMIM:251880 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia |
OMIM:615935 |
Optic Atrophy 1 |
|
Optic atrophy, Pallor |
OMIM:165500 |
Trisomy 10P |
|
Absent gallbladder, Decreased muscle mass, High palate, Rectovaginal fistula, Gastroesophageal re... |
ORPHA:171929 |
1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Hyposegmentation of neutrophil nuclei, Submucous... |
ORPHA:250999 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu... |
ORPHA:88618 |
Distal Duplication 5Q |
|
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Hernia |
ORPHA:96097 |
Tonne-Kalscheuer Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Velopharyngeal insufficiency, Pulmonary hypoplas... |
OMIM:300978 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Splenomegaly, Thrombocyto... |
OMIM:607616 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Alg6-Cdg |
|
Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice |
ORPHA:79320 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol... |
OMIM:610199 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy... |
OMIM:603903 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper... |
ORPHA:247585 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Zollinger-Ellison syndrome, Abnormal biliary tract morp... |
ORPHA:438274 |
Vacterl/Vater Association |
|
Omphalocele, Congenital diaphragmatic hernia, Abnormality of the pancreas, Cryptorchidism, Anorec... |
ORPHA:887 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Congenital diaphragmatic hernia, Cleft palate, Granulocytopenia, Bifid uvula |
OMIM:606164 |
Trisomy 8P |
|
Multiple joint contractures, Cryptorchidism, Malrotation of small bowel, Abnormal lung lobation, ... |
ORPHA:264450 |
Isolated Anencephaly |
|
Omphalocele, Thymus hyperplasia, Congenital diaphragmatic hernia |
ORPHA:563609 |
8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, High, narrow palate, Cryptorchidism, Contractures of the large joints,... |
ORPHA:96092 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung lobation, Narrow ... |
ORPHA:2063 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Acrocallosal Syndrome |
|
Cryptorchidism, Inguinal hernia, Congenital diaphragmatic hernia |
ORPHA:36 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Premature birth, Nonimmune hydrops fetalis, Elevated circulating... |
OMIM:618838 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia, Edema, Generalized edema |
OMIM:615244 |
Schisis Association |
|
Omphalocele, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Cleft palate, Anal atresia |
ORPHA:63862 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... |
ORPHA:2869 |
Donnai-Barrow Syndrome |
|
Omphalocele, Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia |
ORPHA:2143 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Abnormal circulating lipid concentration, Portal hypertension, Conjugate... |
ORPHA:186 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis |
OMIM:276822 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Optic atrophy, Pallor |
OMIM:612989 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Pallor |
OMIM:606353 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Polycystic ovaries... |
ORPHA:284180 |
Serkal Syndrome |
|
Malrotation of small bowel, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:139466 |
Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal mesentery morphology, Abnormality of th... |
ORPHA:2075 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Pallor |
OMIM:613341 |
Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Cryptorchidism, Cleft palate, A... |
ORPHA:95706 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Reticulocytope... |
OMIM:613309 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp... |
ORPHA:567983 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... |
OMIM:615234 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Edema, Peri... |
OMIM:619487 |
Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Hepatosplenomegaly, Myopathy |
ORPHA:33574 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Jaundice, Dehyd... |
ORPHA:1667 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia |
ORPHA:380 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Ulcerative colitis, Anemia |
OMIM:619398 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S... |
OMIM:602347 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Foot joint contracture, Facial palsy, Achilles tendon contracture, Aplasia/Hypoplas... |
ORPHA:456312 |
Zttk Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Submucous cleft hard palate, Flexion contracture, H... |
OMIM:617140 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Edema, Periorbital edema, Peritonitis, Hypoalbuminemia, Hypercholesterolemi... |
ORPHA:567548 |
Steinfeld Syndrome |
|
Absent gallbladder, Bifid uvula, Median cleft lip and palate |
OMIM:184705 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Periorbital edema, Peritonitis, Hypoalbuminemia, Edema |
ORPHA:656 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Chylomicron Retention Disease |
|
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:246700 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increa... |
ORPHA:540 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cleft palate, Cryptorchidism |
OMIM:300712 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infections, Abnormal pulmonary ... |
OMIM:613101 |
Irida Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration, Pallor |
ORPHA:209981 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Decreased circulating free fatty acid level, Pallor, Diffuse pancreatic islet hyper... |
ORPHA:276575 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Edema, Splenomeg... |
OMIM:603553 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Decreased circulating free fatty acid level, Pallor, Diffuse pancreatic islet hyper... |
ORPHA:276556 |
Achondrogenesis |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:932 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Edema, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, ... |
ORPHA:90362 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Decreased fetal movement, Hydrops fetalis, Facial palsy, Polyhydramnios |
OMIM:255320 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
Galloway-Mowat Syndrome 6 |
|
Intrauterine growth retardation, Hypoalbuminemia |
OMIM:618347 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Tetrasomy 9P |
|
Absent gallbladder, Myositis, Abnormal dental enamel morphology, Cryptorchidism, Jaundice, Biliar... |
ORPHA:3310 |
Autoinflammation With Infantile Enterocolitis |
|
Splenomegaly, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:616050 |
Lowry-Maclean Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Bilateral cryptorchidism, Midgut malrotation, A... |
ORPHA:2409 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Edema, Hypoalbuminemia, Ascites, Hypoproteinemia, Generalized edema |
OMIM:226300 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Mulibrey Nanism |
|
Hepatomegaly, Ascites, Hydrops fetalis, Intrauterine growth retardation |
OMIM:253250 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Flexion contracture, Pancreatic hypoplasia, Anemia, Pancreat... |
OMIM:609069 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Edema |
OMIM:256300 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:609015 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Hemophagocytosis, Neutropenia, Anemia |
OMIM:603552 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa... |
OMIM:308240 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Inguinal hernia, Torticollis, Intestinal malrotation, Congenita... |
OMIM:609029 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... |
OMIM:206100 |
15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Cryptorch... |
ORPHA:94065 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Generalized amyotrophy, ... |
ORPHA:171 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:242150 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Rhabdomyolysis, Hematochezia, Cholestatic li... |
ORPHA:79095 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93298 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Agenesis of pulmonary vessels, ... |
OMIM:601186 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:615085 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Death in infancy, Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Anasa... |
OMIM:618183 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93299 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Ascites, Hypoalbuminemia, Edema |
ORPHA:2070 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Congenital diaphragmatic hernia |
OMIM:300887 |
American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Edema, Periorbital edema, Splenomegaly, Pallor |
ORPHA:3386 |
Neuraminidase Deficiency |
|
Hepatomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Ascites |
OMIM:256550 |
Alg1-Cdg |
|
Hypoalbuminemia, Decreased liver function |
ORPHA:79327 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Single umbilical artery, Hydrops fetalis, Polyhydramnios |
ORPHA:3405 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:260370 |
Mody |
|
Elevated hemoglobin A1c, Pancreatic hypoplasia, Hepatocellular adenoma, Exocrine pancreatic insuf... |
ORPHA:552 |
Campomelia, Cumming Type |
|
Hepatomegaly, Death in infancy, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, Hydrop... |
ORPHA:1318 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pallor |
OMIM:613561 |
Coffin-Siris Syndrome 3 |
|
Inguinal hernia, Central diaphragmatic hernia, Cleft palate, Macroglossia, High palate, Umbilical... |
OMIM:614608 |
Craniofrontonasal Dysplasia |
|
High palate, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1520 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Usual interstitial pneumonia, Gastroesophageal reflux, Pulmonary f... |
OMIM:614742 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Flexion contracture of finger, Decreased response to growth hormone stimulation tes... |
OMIM:602782 |
Idiopathic Neonatal Atrial Flutter |
|
Hydrops fetalis, Fetal distress |
ORPHA:45452 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:166300 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Cebalid Syndrome |
|
High palate, Congenital diaphragmatic hernia |
OMIM:618774 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Boomerang Dysplasia |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:1263 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Absent gallbladder |
ORPHA:3186 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis... |
OMIM:611812 |
Avian Influenza |
|
Elevated hepatic transaminase, Miscarriage, Elevated circulating creatine kinase concentration, E... |
ORPHA:454836 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia |
ORPHA:100024 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Nonimmune hydrops fetalis, Edema, ... |
OMIM:212065 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Long Qt Syndrome 3 |
|
Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:603830 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Increased C-peptide level, Hepatomegaly |
ORPHA:276580 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Edema, Pedal edema, Hyp... |
OMIM:277900 |
Immunodeficiency 27A |
|
Splenomegaly, Hypoalbuminemia, Hepatosplenomegaly |
OMIM:209950 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Optic atrophy, Dry skin, Death in adolescence, Hypoalbuminemia, As... |
OMIM:610965 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites |
ORPHA:69735 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Decreased circulating free fatty acid level, Hepatomegaly, Pallor, Increased C-peptide level |
ORPHA:324575 |
Cooper-Jabs Syndrome |
|
Anteriorly placed anus, Umbilical hernia, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1488 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Fryns Syndrome |
|
Omphalocele, Aganglionic megacolon, Intestinal malrotation, Congenital diaphragmatic hernia, Cryp... |
ORPHA:2059 |
Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Xerostomia, Abnormality of the liver... |
ORPHA:85443 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Biliary hyperplasia, Pyloric stenosis, C... |
ORPHA:83617 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnio... |
OMIM:608013 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Cholelithiasis |
ORPHA:3166 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Inguinal hernia, Multiple joint contractures, Congenital diaphr... |
ORPHA:96170 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Anemic pa... |
ORPHA:86839 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Posterolateral diaphragmatic hernia, Inguinal hernia, Morgagni diaphragmatic he... |
OMIM:613177 |
13Q12.3 Microdeletion Syndrome |
|
Cryptorchidism, Recurrent respiratory infections, Congenital diaphragmatic hernia, Camptodactyly |
ORPHA:412035 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Hepatic st... |
OMIM:615438 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Hepatic failur... |
ORPHA:75233 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Facial diplegia, Testicular atrophy, Dysphagia |
OMIM:160900 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... |
OMIM:208540 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Perlman Syndrome |
|
Distal ileal atresia, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplasia of the abdomina... |
OMIM:267000 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H... |
OMIM:278000 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Facial edema, Hyperlipidemia, Pedal edema, Anasarca, Hypoalbuminemia, Ple... |
ORPHA:567546 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Elevated circulating creatine kinase concentration, Death in adolescence, Hypoa... |
OMIM:619055 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate... |
OMIM:614294 |
Eosinophilia, Familial |
|
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia |
OMIM:131400 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Anemia |
ORPHA:28 |
Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Recurrent u... |
OMIM:301082 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Mosaic Trisomy 1 |
|
Omphalocele, Hepatic agenesis, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow fl... |
ORPHA:1692 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Hydrops fetalis, Macr... |
OMIM:557000 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Ascites, Hydrops fetalis, Edema |
ORPHA:90308 |
Lymphatic Malformation 1 |
|
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis |
OMIM:153100 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Tracheoesophageal fistula, Aplasia of the left hemidiaphragm... |
ORPHA:2437 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Hydrops fetalis, Single umbilical artery, Intrauterine growth retardation, Pleura... |
OMIM:616897 |
Achondrogenesis, Type Ii |
|
Stillbirth, Polyhydramnios, Hydrops fetalis, Edema |
OMIM:200610 |
Ménétrier Disease |
|
Hypoproteinemia, Peripheral edema, Hypoalbuminemia |
ORPHA:2494 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Eosinophilia, Pneumonia, Splenomega... |
OMIM:226990 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... |
OMIM:613673 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Hypophosphatemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, H... |
ORPHA:398063 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hyperammonemia, Pallor, Hyperuricemia, Death in childhood |
OMIM:246450 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Subc... |
ORPHA:97278 |
Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Increased fecal coproporphyrin 1, Corneal... |
OMIM:263700 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Abnormality of the pancreas, Jaundice, Abnormalities ... |
OMIM:222470 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, High palate,... |
OMIM:612530 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym... |
OMIM:619991 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Decreased muscle mass, ... |
ORPHA:298 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Cryptorch... |
ORPHA:363528 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Anomal... |
ORPHA:2311 |
Hemochromatosis, Type 4 |
|
Anemia, Hepatomegaly, Hepatic steatosis, Cirrhosis |
OMIM:606069 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc... |
OMIM:612714 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous p... |
ORPHA:2930 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Subc... |
ORPHA:97261 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Facial palsy, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Repeated pneumothoraces, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidism,... |
OMIM:617602 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia,... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia,... |
ORPHA:529808 |
Jansen-De Vries Syndrome |
|
Central diaphragmatic hernia, Gastroesophageal reflux |
OMIM:617450 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs, Congenital diaphragmatic hernia, Abnormal lung lobation, Anomalo... |
ORPHA:1120 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Gastrointestinal dysmotility, Cleft palate, Gastroe... |
ORPHA:500150 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Thrombocytopen... |
ORPHA:158057 |
Trisomy 1Q |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Cleft pala... |
ORPHA:261344 |
Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, High, narrow palate, Cryptorchidism, Abnormal panc... |
ORPHA:2849 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal lymphedema, Edema, Lymphedema, Reduced circulating transferrin concentration, Chylous ... |
ORPHA:90363 |
Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Hyponatremia, Elevated circulating C-reactive protein concentratio... |
ORPHA:247353 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Distal lower limb amyotrophy, Recurrent respiratory infections, Facial hypotonia, Cryptorchidism,... |
OMIM:300534 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Edema |
OMIM:617575 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Celiac disease, Desquamative interstiti... |
OMIM:615952 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Omphalocele, Inguinal hernia, Abnormal dental enamel morphology, Congenita... |
ORPHA:2092 |
Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Portal hypertension, Microcytic anemia, Esopha... |
ORPHA:774 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased connective tissue, Scarring alopecia of scalp, Motheaten muscle fibers, Muscular dystro... |
OMIM:226670 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Splenomegaly, Lymp... |
OMIM:616843 |
Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Diastasis recti, Portal hypertension, Flexion contracture, Hepatitis, Cholestasi... |
ORPHA:440713 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Optic atrophy, Bile duct proliferation, Macrovesicular hepatic ste... |
OMIM:618329 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Pallor, Increased total bilirubin |
ORPHA:90037 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Ileu... |
ORPHA:83469 |
Donnai-Barrow Syndrome |
|
Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia, Umbilical hernia, Diaphragm... |
OMIM:222448 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia |
OMIM:618107 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pneumoniti... |
OMIM:620296 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Normochromic anemia, Thrombocytopenia |
OMIM:618775 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Neonatal death, Death in infancy, Nonimmune hydrops fetalis, Fetal pleural effusion |
OMIM:620167 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Edema, Peritonitis, Elevated circulating crea... |
ORPHA:36234 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Death in infancy, Splenomegaly, Hydrops fetalis, Intrauterine growth retardation |
OMIM:230500 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic hernia, Abnormal lung lobation, Trache... |
ORPHA:958 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Volvulus,... |
OMIM:112200 |
Proximal 16P11.2 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:370079 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm... |
ORPHA:905 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Nonimmune hydrops fetalis, Pericardial effusion, Increased circulating ferr... |
OMIM:619313 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormal... |
ORPHA:54251 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Ab... |
ORPHA:521219 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Pleural empyema, Hypoalbuminemia, Pleural effusion |
ORPHA:67 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Cirrhosis, Neutropenia, Lymphopenia, Anemia |
OMIM:604250 |
Evans Syndrome |
|
Jaundice, Pallor, Petechiae |
ORPHA:1959 |
Meacham Syndrome |
|
Congenital diaphragmatic hernia, Abnormality of the spleen, Cryptorchidism, Abnormal lung lobatio... |
ORPHA:3097 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Aplasia of the left hemidiaphragm |
OMIM:618238 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Pallor |
ORPHA:49827 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... |
ORPHA:131 |
Trisomy 13 |
|
Intrauterine growth retardation, Optic atrophy, Hydrops fetalis |
ORPHA:3378 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Hypoalbuminemia, Macrovesicular hepatic steatosis, Dea... |
OMIM:617303 |
Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia, Asplenia, Peripheral pulmonary vessel aplasia, Cleft palate, Pul... |
OMIM:273395 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Cholel... |
OMIM:240300 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
OMIM:601927 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor, Lymphedema |
ORPHA:3226 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Inguinal hernia, Multiple joint contractures, Congenital diaphragmatic hernia, Weakness of facial... |
OMIM:265000 |
2Q37 Microdeletion Syndrome |
|
Pyloric stenosis, Congenital diaphragmatic hernia, Umbilical hernia, Supernumerary nipple |
ORPHA:1001 |
Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Hepatoblastoma, Polycythemia, Hepa... |
ORPHA:116 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatosplenomegaly, ... |
ORPHA:300298 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Leukopenia, Pancreatitis, Anemia |
ORPHA:27 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Congenital diaphragmatic hernia, Cleft palate, Hydrocele testis, Gastroesophageal ... |
OMIM:614080 |
Myelofibrosis |
|
Splenomegaly, Pallor, Purpura |
OMIM:254450 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Jaundice, Pallor, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Dec... |
OMIM:300908 |
Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, Ecchymosis, Petechia... |
ORPHA:824 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocy... |
ORPHA:100026 |
Coach Syndrome 3 |
|
Portal fibrosis, Anemia |
OMIM:619113 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
High palate, Congenital diaphragmatic hernia |
OMIM:619699 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Pallor, Hepatosplenomegaly |
OMIM:611590 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Inguinal hernia, Congenital diaphragmatic hernia, Umbilical her... |
OMIM:219100 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:56425 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Hyponatremia, Premature birth, Redundant skin, Polyhydramnios, Ede... |
ORPHA:79324 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia |
OMIM:612840 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallblad... |
ORPHA:512 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Pallor |
OMIM:611804 |
Cornelia De Lange Syndrome 1 |
|
Inguinal hernia, Pneumonia, Congenital diaphragmatic hernia, Hiatus hernia, Malrotation of colon,... |
OMIM:122470 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating fatty-acid concentration, Pancr... |
ORPHA:263455 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Pagod Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Abnormality of the spleen, Pulmonary artery hypopla... |
ORPHA:991 |
Mucopolysaccharidosis Type 7 |
|
Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Ascites |
ORPHA:584 |
Meacham Syndrome |
|
Accessory spleen, Aplasia of the right hemidiaphragm, Partial anomalous pulmonary venous return, ... |
OMIM:608978 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy, Anemia |
ORPHA:371 |
Sepsis In Premature Infants |
|
Hepatomegaly, Premature birth, Edema, Elevated circulating C-reactive protein concentration, Sple... |
ORPHA:90051 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Increased serum iron, Pallor, Increased total iron binding capacit... |
ORPHA:98870 |
Zaki Syndrome |
|
High palate, Congenital diaphragmatic hernia |
OMIM:619648 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis |
OMIM:616738 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Non-Functioning Paraganglioma |
|
Cranial nerve compression, Hypercalcemia, Pallor |
ORPHA:94080 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Pyloric stenosis, Congenital diaphragmatic hernia, Gastroesophageal reflux, Cleft palate |
ORPHA:261197 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl... |
ORPHA:398124 |
Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft palate, Pulmonary hypoplasia |
OMIM:313850 |
Halperin-Birk Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Pseudobulbar paralysis, Hi... |
OMIM:618651 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery, Duodenal atresia |
ORPHA:1203 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardial effusion, Hypoalbuminemia, ... |
OMIM:235510 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Omphalocele, Pancreatic fibrosis, Hypoplasia of the small intest... |
OMIM:200995 |
Arterial Tortuosity Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Pulmonary artery stenosis, Flexi... |
OMIM:208050 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice, Pallor |
OMIM:613839 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia |
ORPHA:1647 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Unilateral cryptorchidism, Intestinal malrotation, Congenital diaphragmatic her... |
OMIM:618280 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
Fetal Alcohol Syndrome |
|
Congenital diaphragmatic hernia, Cleft palate |
ORPHA:1915 |
8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Pulmonary artery stenosis, High palate, Congenital diaphragmatic hernia |
ORPHA:251071 |
Farber Disease |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Hydrops fetalis, ... |
ORPHA:333 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Ab... |
ORPHA:93111 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Camptodactyly of finger, Supernumerary nipple, Congen... |
ORPHA:373 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Portal hypertension, Cholestasis, Anasarca, Bile duct proliferatio... |
OMIM:613658 |
Opitz Gbbb Syndrome |
|
Omphalocele, Enlarged ovaries, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, ... |
ORPHA:2745 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... |
ORPHA:480520 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor, Mildly elevated creatine kinase |
ORPHA:536516 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
White-Sutton Syndrome |
|
Facial hypotonia, Congenital diaphragmatic hernia, Cleft palate, Gastroesophageal reflux, High pa... |
OMIM:616364 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Increased sarcoplasmic glyc... |
ORPHA:264580 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Pleural effusion, Anasarca, Hypoalbuminemia, Edema |
OMIM:254900 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Fryns Syndrome |
|
Omphalocele, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Esophageal... |
OMIM:229850 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Recurrent respiratory infections, Inguinal hernia, Aganglionic megacolon, Malabsorption, Abnormal... |
ORPHA:935 |
Platyspondylic Dysplasia, Torrance Type |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:85166 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Steatorrhea, Macroglossia, Distal arthrogryposis, Recurrent pancreati... |
OMIM:618268 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Single umbilical artery, Miscarriage, Hydrops fetalis, Increased placental thickness |
ORPHA:1865 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Decreased L... |
ORPHA:14 |
Galloway-Mowat Syndrome 3 |
|
Intrauterine growth retardation, Hypoalbuminemia, Edema, Oligohydramnios |
OMIM:617729 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... |
ORPHA:209902 |
Achondrogenesis, Type Ia |
|
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Absence of stomach bu... |
OMIM:200600 |
Mosaic Trisomy 9 |
|
Polyhydramnios, Asplenia, Hydrops fetalis, Single umbilical artery, Abnormal liver lobulation, In... |
ORPHA:99776 |
Greenberg Dysplasia |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, I... |
OMIM:215140 |
Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia, Rectovaginal fistula, Tracheoesophageal fistula, Anal atresia |
ORPHA:1780 |
Alveolar Echinococcosis |
|
Liver abscess, Pulmonary cyst, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, ... |
ORPHA:284 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Gm1 Gangliosidosis |
|
Premature birth, Splenomegaly, Optic atrophy, Hydrops fetalis, Hepatosplenomegaly |
ORPHA:354 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g... |
OMIM:175200 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Pulmonary artery hypoplasia, Congenital diaphragmatic hernia |
OMIM:616777 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperuricemia, Pallor, Hyperalaninemia, Hepatic stea... |
ORPHA:348 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Edema, Hyperammonemia, Dehydration, Hyperuricemia, Pallor |
ORPHA:134 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Fetal pericardial effusion, Single umbilical artery, Fetal... |
OMIM:620244 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hepatic fibrosis, Hydrops fetalis |
OMIM:614091 |
White-Sutton Syndrome |
|
Abnormality of the gastrointestinal tract, Ventral hernia, Inguinal hernia, Facial hypotonia, Con... |
ORPHA:468678 |
Holoprosencephaly |
|
Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of the spleen, Aplasia/... |
ORPHA:2162 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Recurrent upper and lower respiratory tract infections |
ORPHA:171876 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Abno... |
ORPHA:79124 |
Trisomy 18 |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Esophageal atresia, Crypto... |
ORPHA:3380 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr... |
ORPHA:98850 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Felty Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Thrombocytopenia, Recurrent pharyng... |
ORPHA:47612 |
Schneckenbecken Dysplasia |
|
Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:269250 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia, Neonatal death, Ovarian gon... |
OMIM:194080 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Cholelithiasis, Hepatic failure |
OMIM:614886 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cleft palate, Bile duct proliferation, He... |
OMIM:607361 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Lethal Congenital Contracture Syndrome 10 |
|
Oligohydramnios, Intrauterine growth retardation, Hydrops fetalis, Fetal akinesia sequence |
OMIM:617022 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor, Increased total bilirubin |
ORPHA:90036 |
Dominant Beta-Thalassemia |
|
Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Chronic hepatitis, Hepatosplenomegaly, Hepatic... |
ORPHA:231226 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Joint contracture, Congenital diaphragmatic hernia, Dysphagia |
OMIM:615919 |
Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia, Anal atresia |
ORPHA:63260 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Thrombocytopenia, Cryptorchidism, Pulmonary fibrosis, Emphysema, Lymphopenia... |
OMIM:620365 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Dermal translucency, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema |
OMIM:137940 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Edema, Jaundice, Lipid accumulat... |
ORPHA:20 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Stillbirth, Ascites, Oligohy... |
OMIM:617667 |
Ring Chromosome 13 Syndrome |
|
Hypoplasia of the gallbladder, High palate, Anal atresia |
ORPHA:96176 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Arthrogryposis multiplex congenita, Lower-limb joint contracture, Pancreatic hypoplasia, Reduced ... |
ORPHA:99885 |
Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Pylori... |
ORPHA:818 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hydrops fetalis, ... |
ORPHA:699 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Ileus, Hepatitis, Anemia, Coombs-posi... |
OMIM:304790 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Jaundice, Optic atrophy, Hydrops fetalis, Dehydration,... |
ORPHA:79282 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Limb-girdle m... |
ORPHA:79240 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... |
OMIM:619377 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema |
OMIM:607823 |
Fumarase Deficiency |
|
Bilateral fetal pyelectasis, Polyhydramnios, Intrahepatic cholestasis, Optic atrophy, Ascites, Pa... |
OMIM:606812 |
Galloway-Mowat Syndrome 1 |
|
Intrauterine growth retardation, Optic atrophy, Hypoalbuminemia, Oligohydramnios |
OMIM:251300 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia, Esophageal varix, Abnorm... |
ORPHA:2072 |
Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of... |
ORPHA:280 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Inguinal hernia, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, Cleft ... |
OMIM:245600 |
Galactosialidosis |
|
Nonimmune hydrops fetalis, Hepatosplenomegaly |
OMIM:256540 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Increased circulating ferritin concentration, Pallor |
OMIM:600462 |
Shwachman-Diamond Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Myocardial nec... |
OMIM:260400 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Pseudobulbar paralysis, Lower limb muscle weakness, Tendon xanthomatosis |
OMIM:213700 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops f... |
OMIM:602522 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Neutropenia, Steatorrhea, High palate, Hyperechogenic pancreas, ... |
OMIM:617941 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Supernumerary nipple, Cryptorchidi... |
OMIM:618454 |
Fibrochondrogenesis 1 |
|
Stillbirth, Hydrops fetalis |
OMIM:228520 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Death in infancy, Bilateral fetal pyelectasis, Polyhydramnios, Microvesicular hepat... |
OMIM:300868 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Polyhydramnios, Splenomegaly, Biliary c... |
OMIM:613610 |
Meckel Syndrome, Type 7 |
|
Inguinal hernia, Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatospl... |
OMIM:267010 |
Plummer-Vinson Syndrome |
|
Decreased circulating ferritin concentration, Pallor |
ORPHA:54028 |
Oligomeganephronia |
|
Pulmonary venous occlusion, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2260 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Elbow flexion contracture, Congenital diaphragmatic hernia |
OMIM:618022 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Splenomegaly, Hepatitis, Abnormal blood ion concentration, Hypoalb... |
ORPHA:37042 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Pallor, Hepatosplenomegaly |
ORPHA:99931 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Pancreatic hypoplasia, Biliary tract abnormality, Exocrine pancrea... |
OMIM:137920 |
Icf Syndrome |
|
Recurrent respiratory infections, Abnormality of neutrophils, Protruding tongue, Malabsorption, M... |
ORPHA:2268 |
Lathosterolosis |
|
Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos... |
OMIM:607330 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Lipodystrophy, Splenomegaly, Thrombocytope... |
OMIM:617591 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, Hepatic fibr... |
ORPHA:231214 |
Craniofrontonasal Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, Umbilical hernia, Unilateral breas... |
OMIM:304110 |
Limb Body Wall Complex |
|
Ventral hernia, Diastasis recti, Congenital diaphragmatic hernia, Cleft palate, Abnormality of th... |
ORPHA:2369 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Jaundice, Pallor |
ORPHA:90033 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Duodenal polyposis, Stomach cancer, Goiter, Pituit... |
ORPHA:733 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
Gm1 Gangliosidosis Type 1 |
|
Abnormal placenta morphology, Intrauterine growth retardation, Hydrops fetalis, Hepatosplenomegaly |
ORPHA:79255 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Periorbital edema, Splenomegaly, Pedal edema, Pallor, Pleural effusion, Purpura |
ORPHA:33226 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Congenital diaphragmatic hernia, Elbow flexion contracture, Narrow palate, High pa... |
OMIM:200980 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, High, narrow palate, Recurrent pneumonia, Cleft palate, Furrowed tongue, Choleli... |
ORPHA:464738 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Abnormal lung lobation, Hepatoblastoma, Hepatomegaly, Exaggerate... |
OMIM:312870 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary inters... |
ORPHA:77293 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Nonimmune hydrops fetalis |
OMIM:618265 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Cleft palate, Hepatosplenomegaly, Umbilical hernia, Cholecystitis, Cholelithiasis |
OMIM:301066 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary interstitial morpholo... |
OMIM:230800 |
Aceruloplasminemia |
|
Refractory anemia, Torticollis, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepa... |
ORPHA:48818 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Leukocytosis,... |
OMIM:615895 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Autoimmune hemolytic anemia, Intestinal malrotation, Gastrointestinal atresia, Hepat... |
ORPHA:436252 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Pallor, Optic nerve hypoplasia |
OMIM:609053 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia |
OMIM:618313 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contrac... |
ORPHA:97297 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cleft palate, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Hamartoma of tongue |
OMIM:616546 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia |
OMIM:618398 |
Osteogenesis Imperfecta, Type Ii |
|
Premature birth, Nonimmune hydrops fetalis |
OMIM:166210 |
Letterer-Siwe Disease |
|
Jaundice, Pallor, Hepatosplenomegaly |
OMIM:246400 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypoalbuminemia, Neonatal... |
OMIM:619534 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Decreased fetal movement, Death in infancy, Aganglionic megacolon, Premature birth,... |
OMIM:270400 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Pulmonary fibrosis, Testicular atrophy, Oral leukopl... |
OMIM:618165 |
46,Xx Sex Reversal 5 |
|
Aplasia of the left hemidiaphragm |
OMIM:618901 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Abnormal pulmonary int... |
ORPHA:77259 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatitis, Exo... |
OMIM:167800 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Nonimmune hydrops fetalis |
OMIM:618052 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
Poland Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia of the pectoralis major muscle, Absence ... |
ORPHA:2911 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Hypoplasia of the thymus, High palate, Neutropenia, Hepatomegaly, Perianal abscess, C... |
OMIM:612541 |
Mucopolysaccharidosis, Type Vii |
|
Splenomegaly, Hepatomegaly, Hydrops fetalis |
OMIM:253220 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... |
ORPHA:89842 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
Diets-Jongmans Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Umbilical hernia, Duodenal atresia |
OMIM:618846 |
Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Decreased fetal movement, Nonimmune hydrops fetalis, Polyhydramnios, Breech present... |
OMIM:620369 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Congenital diaphragmatic hernia, Cleft palate, Anteriorly placed anus, Colonic atresia, Anal atresia |
OMIM:309801 |
Aymé-Gripp Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, Camptodactyly, Br... |
ORPHA:1272 |
Bone Marrow Failure Syndrome 6 |
|
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... |
OMIM:618849 |
Alg9-Cdg |
|
Thickened nuchal skin fold, Hepatomegaly, Decreased fetal movement, Pericardial effusion, Hydrops... |
ORPHA:79328 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Cryptorchidism, Aortopulmonary window, Pulmonary artery hypoplasia, Aplasia of the ... |
OMIM:620025 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Digeorge Syndrome |
|
High, narrow palate, Parathyroid hypoplasia, Hypoplasia of the thymus, High palate, Gastroesophag... |
OMIM:188400 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumonitis, Increa... |
OMIM:127550 |
Hereditary Mixed Polyposis Syndrome |
|
Refractory anemia, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... |
ORPHA:157794 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Inguinal hernia, High palate, Congenital diaphragmatic hernia |
ORPHA:96121 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hyperamylasemi... |
ORPHA:99826 |
Meckel Syndrome, Type 2 |
|
Omphalocele, Bile duct proliferation, Intestinal malrotation, Cleft palate |
OMIM:603194 |
Mycophenolate Mofetil Embryopathy |
|
Tracheoesophageal fistula, Congenital diaphragmatic hernia |
ORPHA:268249 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Pallor, Decreased serum iron |
OMIM:616959 |
Hennekam Syndrome |
|
Lymphedema, Pericardial effusion, Splenomegaly, Hydrops fetalis, Chylothorax, Hypocalcemia, Ascites |
ORPHA:2136 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr... |
OMIM:617052 |
Hemochromatosis, Type 5 |
|
Anemia, Elevated hepatic iron concentration |
OMIM:615517 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Optic atrophy, Hypoalbuminemia, Hepatosplenomegaly |
ORPHA:505248 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Biliary cirrhosis, Hypotriglyceridemia, Hypoalbumi... |
ORPHA:2298 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cranial nerve compression, Hypercalcemia, Pallor |
ORPHA:276621 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Anal atresia, Hypoparathyroidism, Inguinal hernia, Aganglionic megac... |
ORPHA:567 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly |
ORPHA:331206 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor, Elevated circulating creatine kinase concentration |
OMIM:617675 |
Iniencephaly |
|
Omphalocele, Congenital diaphragmatic hernia, Arthrogryposis multiplex congenita, Anal atresia, D... |
ORPHA:63259 |
Sandifer Syndrome |
|
Torticollis, Hiatus hernia, Hematemesis, Gastroesophageal reflux, Esophagitis, Anemia |
ORPHA:71272 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... |
OMIM:208150 |
17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Cryptorchidism, Pancreatic aplasia |
ORPHA:261265 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Inguinal hernia, Congenital diaphragmatic hernia, Emphysema, High palate, Pulmonary artery aneury... |
OMIM:614437 |
Distal Deletion 15Q |
|
Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, Pulmonary hypoplasia, Bifid tongue |
ORPHA:1596 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Erythema, Hypoalbuminemia |
ORPHA:79396 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
Monosomy 9P |
|
Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, High palate, Hernia |
ORPHA:261112 |
Adenohypophysitis |
|
Hyponatremia, Orthostatic hypotension, Pallor |
ORPHA:95512 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Recurrent resp... |
ORPHA:537 |
Gaucher Disease |
|
Hepatomegaly, Death in infancy, Elevated circulating C-reactive protein concentration, Splenomega... |
ORPHA:355 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Sitosterolemia 1 |
|
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Intestinal pseudo-obstruction, Decreased ... |
ORPHA:273 |
Lymphedema-Distichiasis Syndrome |
|
Chylothorax, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema |
OMIM:153400 |
Pseudoaminopterin Syndrome |
|
Posterolateral diaphragmatic hernia, Inguinal hernia, Asplenia, Cryptorchidism, High palate |
ORPHA:221120 |
Panhypophysitis |
|
Hyponatremia, Orthostatic hypotension, Pallor |
ORPHA:95513 |
Feingold Syndrome |
|
Abnormality of the spleen, Annular pancreas, Esophageal atresia, Duodenal atresia |
ORPHA:1305 |
Gaucher Disease Type 3 |
|
Splenomegaly, Hepatomegaly, Pericardial effusion, Hydrops fetalis |
ORPHA:77261 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... |
OMIM:276700 |
Kabuki Syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia, High palate, Cleft palate |
ORPHA:2322 |
Coffin-Siris Syndrome 1 |
|
Recurrent respiratory infections, Inguinal hernia, Duodenal ulcer, Intestinal malrotation, Congen... |
OMIM:135900 |
Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Intestinal malrotation, Supernumerary nipple, Hiatus hernia, Congen... |
OMIM:305600 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Hepatic fibrosis, Hydrops fetalis |
OMIM:263520 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Infl... |
OMIM:232220 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia,... |
OMIM:130650 |
Acrofacial Dysostosis 1, Nager Type |
|
Velopharyngeal insufficiency, Congenital diaphragmatic hernia, Aganglionic megacolon, Cleft palate |
OMIM:154400 |
Mgat2-Cdg |
|
Hydrops fetalis |
ORPHA:79329 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Jaundice, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia |
OMIM:105600 |
Cerebrotendinous Xanthomatosis |
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Abnormal lung morphology, Tendon xanthomatosis, Distal amyotrophy, Prolonged neonatal jaundice, C... |
ORPHA:909 |
Juvenile Polyposis Syndrome |
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Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... |
ORPHA:2929 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Congenital diaphragmatic hernia, Partial anomalous pulmonary venous return, Cleft palate, Gastroe... |
OMIM:301044 |
Niemann-Pick Disease Type C |
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Hepatomegaly, Fetal ascites, Splenomegaly, Jaundice, Hydrops fetalis, Hepatosplenomegaly, Ascites... |
ORPHA:646 |
Mullegama-Klein-Martinez Syndrome |
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Facial palsy, Congenital diaphragmatic hernia, Cleft palate, Submucous cleft of soft and hard pal... |
OMIM:301022 |
Sheehan Syndrome |
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Hyponatremia, Orthostatic hypotension, Dry skin, Pallor |
ORPHA:91355 |
Hereditary Pheochromocytoma-Paraganglioma |
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Cranial nerve compression, Hypercalcemia, Pallor |
ORPHA:29072 |
Autoimmune Lymphoproliferative Syndrome |
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Hepatomegaly, Hypersplenism, Splenomegaly, Hepatitis, Hydrops fetalis, Hepatocellular carcinoma |
ORPHA:3261 |
Blomstrand Lethal Chondrodysplasia |
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Premature birth, Hydrops fetalis, Polyhydramnios |
ORPHA:50945 |
Idiopathic Hypereosinophilic Syndrome |
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Elevated hepatic transaminase, Cholangitis, Splenomegaly, Angioedema, Chronic hepatitis, Hepatosp... |
ORPHA:3260 |
C Syndrome |
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Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the abdominal... |
ORPHA:1308 |
Childhood Absence Epilepsy |
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Pallor |
ORPHA:64280 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Abnormal rectum morphology, A... |
ORPHA:2556 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
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Hepatomegaly, Pancreatic fibrosis, Achilles tendon contracture, Skeletal muscle fibrosis, Hepatic... |
OMIM:616263 |
Infection-Related Hemolytic Uremic Syndrome |
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Hyponatremia, Edema, Hyperkalemia, Pleural empyema, Hypocalcemia, Pallor, Pancreatitis, Generaliz... |
ORPHA:544482 |
Cornelia De Lange Syndrome |
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Intestinal malrotation, Congenital diaphragmatic hernia, Pyloric stenosis, Cryptorchidism, Cleft ... |
ORPHA:199 |
Alternating Hemiplegia Of Childhood |
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Pallor, Abnormal autonomic nervous system physiology, Dehydration |
ORPHA:2131 |
Phocomelia, Schinzel Type |
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Intrauterine growth retardation, Hydrops fetalis |
ORPHA:2879 |
Hereditary Folate Malabsorption |
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Pallor |
ORPHA:90045 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Asplenia, Abnormal lung lobation, Neonatal death, Esophageal atresia, Pulmonary artery stenosis, ... |
OMIM:265380 |
Immunodeficiency 82 With Systemic Inflammation |
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Elevated circulating C-reactive protein concentration, Splenomegaly, Hepatitis, Joint swelling, H... |
OMIM:619381 |
Congenital Erythropoietic Porphyria |
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Nonimmune hydrops fetalis, Edema, Splenomegaly, Abnormal circulating porphyrin concentration, Abn... |
ORPHA:79277 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
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Cryptorchidism, Congenital diaphragmatic hernia |
OMIM:617641 |
Multiple Endocrine Neoplasia Type 2 |
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Aganglionic megacolon, Hypercalcemia, Neoplasm of the liver, Pallor, Ganglioneuromatosis |
ORPHA:653 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Splenomegaly, Hepatomegaly, Pallor |
ORPHA:98849 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Optic atrophy, Pallor, Pulmonary edema |
ORPHA:137675 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts... |
OMIM:208500 |
Pituitary Apoplexy |
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Hyponatremia, Pallor |
ORPHA:95613 |
Igg4-Related Submandibular Gland Disease |
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Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Xerostomia, Abnormal pancreas morphology, En... |
ORPHA:449432 |
Hepatoerythropoietic Porphyria |
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Nonimmune hydrops fetalis, Edema, Splenomegaly, Abnormal circulating porphyrin concentration, Abn... |
ORPHA:95159 |
Capillary Malformation-Arteriovenous Malformation |
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Chylothorax, Nonimmune hydrops fetalis, Lymphedema |
ORPHA:137667 |
Atelosteogenesis Type I |
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Malrotation of colon, Abnormal pancreatic duct morphology, Pulmonary hypoplasia, Cleft palate |
ORPHA:1190 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
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Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Hematochezia, Hamartom... |
OMIM:175050 |
Tropical Pancreatitis |
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Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Splenomegaly, Pedal edema, Peripheral edema, Hypoalbuminemia, Ascites |
ORPHA:75565 |
Juvenile Polyposis Of Infancy |
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Hypoalbuminemia |
ORPHA:79076 |
Autosomal Recessive Malignant Osteopetrosis |
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Hepatomegaly, Splenomegaly, Hypocalcemia, Pallor, Hypophosphatemia, Optic nerve compression |
ORPHA:667 |
Von Hippel-Lindau Disease |
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Neoplasm of the pancreas, Papilledema, Pancreatic islet cell adenoma, Pancreatic cysts, Macular e... |
ORPHA:892 |
Degcags Syndrome |
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Hepatomegaly, Premature birth, Polyhydramnios, Echogenic fetal bowel, Breech presentation, Choles... |
OMIM:619488 |
Imerslund-Gräsbeck Syndrome |
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Pallor |
ORPHA:35858 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Igg4-Related Thyroid Disease |
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Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... |
ORPHA:64744 |
Cardiospondylocarpofacial Syndrome |
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Gastroesophageal reflux, Decreased testicular size, Congenital diaphragmatic hernia |
OMIM:157800 |
Aregenerative Anemia |
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Pallor |
ORPHA:101096 |
Yellow Fever |
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Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentration, ... |
ORPHA:99829 |
Kasabach-Merritt Syndrome |
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Reticulocytosis, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic hemolytic ane... |
ORPHA:2330 |
Fanconi Anemia, Complementation Group D2 |
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Pancytopenia, Esophageal atresia, Cryptorchidism, Reticulocytopenia, Tracheoesophageal fistula, A... |
OMIM:227646 |
Incontinentia Pigmenti |
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Erythema, Optic atrophy, Pallor |
OMIM:308300 |
Williams Syndrome |
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Colonic diverticula, Recurrent respiratory infections, Inguinal hernia, Peptic ulcer, Abnormal de... |
ORPHA:904 |
Yunis-Varon Syndrome |
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Increased nuchal translucency, Redundant neck skin, Hydrops fetalis, Polyhydramnios |
ORPHA:3472 |
Witteveen-Kolk Syndrome |
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Inguinal hernia, Unilateral cryptorchidism, Decreased response to growth hormone stimulation test... |
OMIM:613406 |
Generalized Arterial Calcification Of Infancy |
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Polyhydramnios, Edema, Pericardial effusion, Hydrops fetalis, Hepatic calcification, Pancreatic c... |
ORPHA:51608 |
Esophageal Atresia |
|
Pallor, Absence of stomach bubble on fetal sonography, Polyhydramnios |
ORPHA:1199 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Pallister-Killian Syndrome |
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Omphalocele, Anal stenosis, Inguinal hernia, Intestinal malrotation, Supernumerary nipple, Congen... |
OMIM:601803 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Erythema, Hypoalbuminemia |
OMIM:614748 |
Diamond-Blackfan Anemia |
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Pallor, Nonimmune hydrops fetalis |
ORPHA:124 |
Metachromatic Leukodystrophy, Adult Form |
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Cholecystitis, Neoplasm of the gallbladder |
ORPHA:309271 |
Hydrolethalus Syndrome 1 |
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Accessory spleen, Omphalocele, Abnormal lung lobation, Cleft palate, Stillbirth, Adrenal gland dy... |
OMIM:236680 |
Feingold Syndrome 1 |
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Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Gastrointestinal atresia, Trache... |
OMIM:164280 |
Tsh-Secreting Pituitary Adenoma |
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Pericardial effusion, Hypokalemia, Pallor |
ORPHA:91347 |
Cardiac Valvular Dysplasia 1 |
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Hydrops fetalis, Edema |
OMIM:212093 |
Diamond-Blackfan Anemia 1 |
|
Intrauterine growth retardation, Premature birth, Pallor |
OMIM:105650 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Pancreatic fibrosis, Pulmonary hypoplasia |
OMIM:615503 |
Fanconi Anemia, Complementation Group C |
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Intrauterine growth retardation, Anemic pallor |
OMIM:227645 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Pallor, Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:253280 |
Meckel Syndrome |
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Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia, Congenital hep... |
ORPHA:564 |
Peters-Plus Syndrome |
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Bilobate gallbladder, Diastasis recti, Cryptorchidism, Biliary tract abnormality, Cleft palate, A... |
OMIM:261540 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Aplasia of the right hemidiaphragm, Anterior pituitary hypoplasia, Cryptorchidism, Ankyloglossia,... |
OMIM:619841 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor |
OMIM:227650 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Lymphedema, Pericardial effusion, Reduced thyroxin-binding globuli... |
ORPHA:79318 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Congenital hepatic fibrosis, Hydrops fetalis |
ORPHA:93271 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Premature birth, Polyhydramnios, Hydrops fetalis, Intrauterine growth retard... |
OMIM:216340 |
Goodpasture Syndrome |
|
Pallor, Increased blood urea nitrogen |
OMIM:233450 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Low 5-minute APGAR score, Pallor, Low 1-minute APGAR score |
ORPHA:99125 |