Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... |
OMIM:619462 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Death in infancy, Tricuspid regurgitation, Pulmonary insufficiency, Hydrops fetalis... |
OMIM:619433 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart f... |
ORPHA:163596 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Hydrops Fetalis, Nonimmune |
|
Anemia, Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Nuchal Bleb, Familial |
|
Stillbirth, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Fetal Gaucher Disease |
|
Hepatomegaly, Decreased fetal movement, Death in infancy, Pancytopenia, Fetal akinesia sequence, ... |
ORPHA:85212 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Premature birth, Polyhydramnios, Thrombocytopenia, Hydrops fetalis, Ascites, Anemia |
ORPHA:2123 |
Transaldolase Deficiency |
|
Edema, Thrombocytopenia, Hydrops fetalis, Telangiectasia, Hepatosplenomegaly, Cirrhosis, Anemia |
ORPHA:101028 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Increased nuchal translucency, Hydrops fetalis, Hypertrophic cardiomyopathy, As... |
ORPHA:295 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Death in infancy, Nonimmune hydrops fetalis, Splenomegaly, Cardiomyopathy, Abnormal... |
OMIM:608540 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly, Hydrops fetalis, Polyhydramnios |
ORPHA:2204 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C... |
ORPHA:2414 |
Glycogen Storage Disease Iv |
|
Decreased fetal movement, Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Hepatosple... |
OMIM:232500 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Pro... |
OMIM:231100 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Premature birth, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Hy... |
OMIM:269920 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... |
OMIM:613673 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Red... |
OMIM:266200 |
Congenital Enterovirus Infection |
|
Decreased fetal movement, Abnormal macrophage morphology, Premature birth, Polyhydramnios, Fetal ... |
ORPHA:292 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Microcytic anemia, Congesti... |
ORPHA:90308 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Decreased liver fun... |
OMIM:618839 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Death in infancy, Premature birth, Nonimmune hydrops fetalis, Decreased liver function, Neonatal ... |
OMIM:618835 |
Atransferrinemia |
|
Congestive heart failure, Abnormality of the liver, Hypochromic anemia |
OMIM:209300 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Hydro... |
ORPHA:288 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Nonimmune hydrops fetalis, Thrombocytopenia, ... |
OMIM:617021 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... |
ORPHA:45452 |
Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites |
ORPHA:87876 |
Congenital Heart Block |
|
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... |
ORPHA:60041 |
Hemoglobin H Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... |
OMIM:620014 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Death in infancy, Elevated circulating aspartate aminotransferase concentration, Nonimmune hydrop... |
OMIM:617049 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... |
OMIM:603830 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Facial edema, Splenomegaly, Vacuolated lymphocytes, Hydrops... |
OMIM:256550 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Miscarriage, Premature birth, Anemia of inadequate production, A... |
ORPHA:2133 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:613124 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Nonimmune hydrops fetalis, Portal hypertension, Poly... |
ORPHA:367 |
Developmental And Epileptic Encephalopathy 96 |
|
Death in infancy, Hydrops fetalis |
OMIM:619340 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Death in infancy, Fetal akinesia sequence, Dilated cardiomyopathy, Hydrops fetalis, Bradycardia, ... |
OMIM:618815 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Congenital Atransferrinemia |
|
Abnormality of the pancreas, Anemia |
ORPHA:1195 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat... |
OMIM:613313 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth |
OMIM:600972 |
Indomethacin Embryofetopathy |
|
Cardiomyopathy, Premature birth, Hydrops fetalis, Oligohydramnios |
ORPHA:1909 |
Free Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Ascites, Hydrops fetalis |
ORPHA:834 |
Hydrops Fetalis |
|
Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capilla... |
ORPHA:1041 |
Chondrodysplasia, Blomstrand Type |
|
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth |
OMIM:215045 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary arterial hypertension |
OMIM:619003 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... |
OMIM:615631 |
Mulibrey Nanism |
|
Hepatomegaly, Ascites, Hydrops fetalis, Congestive heart failure |
OMIM:253250 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... |
OMIM:609015 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... |
OMIM:557000 |
Campomelia, Cumming Type |
|
Hepatomegaly, Death in infancy, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, Hydrop... |
ORPHA:1318 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Death in infancy, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, V... |
OMIM:230500 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Edema, Splenomegaly, Jaundice, Thrombocytopenia, Hemophagocytosis, Neutropenia, Anemia |
OMIM:603552 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Alg8-Cdg |
|
Elevated hepatic transaminase, Premature birth, Edema, Thrombocytopenia, Hydrops fetalis, Ascites... |
ORPHA:79325 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia, Single umbilical artery, Hydrops fetalis, Polyhydramnios |
ORPHA:3405 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Hepatomegaly, Dehydration |
ORPHA:28 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Left v... |
OMIM:618052 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnio... |
OMIM:608013 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Edema, Anemia of inadequate production, Por... |
ORPHA:3202 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... |
OMIM:206100 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis, Anemia |
OMIM:606069 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... |
OMIM:619313 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Hydrops fetalis, Cardiomyopathy, Abnormality of the liver, Hepatoc... |
ORPHA:88618 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Ascites, Anemia |
ORPHA:100025 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Autosomal Erythropoietic Protoporphyria |
|
Edema, Microcytic anemia, Decreased liver function, Cirrhosis, Cholelithiasis |
ORPHA:79278 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Hemolytic anemia, Aplastic an... |
ORPHA:398124 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Death in infancy, Left ventricular noncompaction cardiomyopathy, Nonimmune hydrops fetalis, Cardi... |
OMIM:620167 |
Galactosialidosis |
|
Conjunctival telangiectasia, Nonimmune hydrops fetalis, Hepatosplenomegaly |
OMIM:256540 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Farber Disease |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia,... |
ORPHA:333 |
Achondrogenesis |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:932 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia |
OMIM:604250 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis |
OMIM:276822 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pa... |
ORPHA:69735 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Premature birth, Thrombocytopenia, Jaundice, Ascites... |
ORPHA:858 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93298 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Dehydration, Leukopenia, Cardiomyopathy, Pancr... |
ORPHA:27 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93299 |
Mucopolysaccharidosis Type 7 |
|
Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Ascites |
ORPHA:584 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Decreased fetal movement, Death in infancy, Edema, Thrombocytopenia, Cholestasis, D... |
OMIM:608104 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia |
ORPHA:100024 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Hepatic st... |
OMIM:615438 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Decreased fetal movement, Hydrops fetalis, Polyhydramnios |
OMIM:255320 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Pericardial effusion, Splenomegaly, Thrombocytopenia, Hydrops fetalis... |
ORPHA:77261 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Pericarditis, Nonimmune hydrops fe... |
OMIM:212065 |
Boomerang Dysplasia |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:1263 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Death in infancy, Elevated circulating aspartate aminotransf... |
OMIM:278000 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Splenomegaly, Lymp... |
OMIM:616843 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Dehydration, Cardiomyopathy, Neutropenia, Pancreati... |
ORPHA:79312 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, ... |
ORPHA:699 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome... |
OMIM:612840 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Tachycardia, Reticulocytosis, Miscarriage, Macrocytic anemia, Anisocytosis, Jau... |
ORPHA:71275 |
Achondrogenesis, Type Ii |
|
Polyhydramnios, Stillbirth, Hydrops fetalis, Edema |
OMIM:200610 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hepatic fibrosis, Hydrops fetalis |
OMIM:614091 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Hydrops fetalis, Hypertrophic cardiomyopathy, Single umbilical artery, Pleural ef... |
OMIM:616897 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Nonimmune hydrops fetalis, Anemia |
OMIM:618838 |
Rhabdoid Tumor |
|
Anemia, Neoplasm of the liver, Hypertension, Internal hemorrhage, Thrombocytopenia |
ORPHA:69077 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hypertrophic cardi... |
OMIM:615415 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Anemia |
ORPHA:37748 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Reticulocytosis, Autoimmune hemolytic anemia, Increased B cell count, Eosinophilia,... |
ORPHA:3261 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Oligohydramnios, Atrial flutter, Hydrops fetalis, Lymphedema |
OMIM:601927 |
Greenberg Dysplasia |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, I... |
OMIM:215140 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... |
OMIM:235700 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... |
OMIM:613011 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm... |
ORPHA:905 |
Gm1 Gangliosidosis |
|
Premature birth, Splenomegaly, Congestive heart failure, Hydrops fetalis, Hepatosplenomegaly, Car... |
ORPHA:354 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Hepatic failure, Anemia |
ORPHA:75233 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly, Vasculitis in the skin, Anemia |
OMIM:620296 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Coach Syndrome 3 |
|
Portal fibrosis, Anemia |
OMIM:619113 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Edema, Pulmonary embolism, Iron deficiency anemia, Budd-Chiari syndrome, Thrombocyt... |
OMIM:226300 |
Mosaic Trisomy 9 |
|
Polyhydramnios, Asplenia, Hydrops fetalis, Single umbilical artery, Abnormal liver lobulation, Ol... |
ORPHA:99776 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Fetal pericardial effusion, Single umbilical artery, Mitra... |
OMIM:620244 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Thrombocytopenia, Hypertensio... |
OMIM:230800 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Thrombocytopenia, Hepatosplenom... |
OMIM:606003 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Lymphatic Malformation 1 |
|
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis |
OMIM:153100 |
Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... |
OMIM:301082 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:618107 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Megaloblastic anemia, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, ... |
ORPHA:79282 |
Mucopolysaccharidosis, Type Vii |
|
Splenomegaly, Hepatomegaly, Hydrops fetalis, Cardiomyopathy |
OMIM:253220 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Restri... |
ORPHA:822 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Death in infancy, Bilateral fetal pyelectasis, Polyhydramnios, Microvesicular hepat... |
OMIM:300868 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
Gm1 Gangliosidosis Type 1 |
|
Abnormal placenta morphology, Hydrops fetalis, Cardiomyopathy, Hepatosplenomegaly |
ORPHA:79255 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Pericardial effusion, Thrombocytopenia, ... |
ORPHA:77259 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m... |
ORPHA:98870 |
Gaucher Disease |
|
Hepatomegaly, Death in infancy, Pancytopenia, Splenomegaly, Thrombocytopenia, Hydrops fetalis, He... |
ORPHA:355 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
Achondrogenesis, Type Ia |
|
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Absence of stomach bu... |
OMIM:200600 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... |
ORPHA:824 |
Osteogenesis Imperfecta, Type Ii |
|
Congestive heart failure, Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis |
OMIM:166210 |
Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Decreased fetal movement, Nonimmune hydrops fetalis, Polyhydramnios, Breech present... |
OMIM:620369 |
Trisomy 13 |
|
Hydrops fetalis |
ORPHA:3378 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Polyhydramnios, Splenomegaly, Biliary c... |
OMIM:613610 |
Trisomy 1Q |
|
Increased nuchal translucency, Hydrops fetalis, Polyhydramnios |
ORPHA:261344 |
Alg9-Cdg |
|
Thickened nuchal skin fold, Hepatomegaly, Decreased fetal movement, Tricuspid regurgitation, Peri... |
ORPHA:79328 |
Schneckenbecken Dysplasia |
|
Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:269250 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Tricuspid regurgitation, Hepatic fibrosis, Hydrops fetalis |
OMIM:263520 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Single umbilical artery, Miscarriage, Hydrops fetalis, Increased placental thickness |
ORPHA:1865 |
Platyspondylic Dysplasia, Torrance Type |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:85166 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Edema, Splenomegaly, Leukocytosis, Desquamation of skin soon after bi... |
ORPHA:39041 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Pedal edema, Left bundle branch block, Abnormal T-wave, Dilated cardiomy... |
ORPHA:563 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Ascites, Anemia |
ORPHA:83469 |
Fibrochondrogenesis 1 |
|
Stillbirth, Hydrops fetalis |
OMIM:228520 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Palmar telangiectasia, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral ... |
OMIM:607823 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Stillbirth, Ascites, Oligohy... |
OMIM:617667 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... |
ORPHA:79124 |
Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Breech presentation, Hepatitis, Cholestasis, Hypochromic microcytic anemia, ... |
ORPHA:440713 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Howell-Jolly bodies, Xerostomia, Jaw cla... |
ORPHA:85443 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Hydrops fetalis, Hep... |
ORPHA:646 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the pancreas, Anemia |
ORPHA:54251 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea... |
ORPHA:300298 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb... |
ORPHA:158061 |
Lethal Congenital Contracture Syndrome 10 |
|
Oligohydramnios, Hypoplasia of the thymus, Hydrops fetalis, Fetal akinesia sequence |
OMIM:617022 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Congestive heart failure, Leukocytosis, Pleural emp... |
ORPHA:67 |
Thrombocytopenia 5 |
|
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... |
OMIM:616216 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated card... |
OMIM:615895 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... |
OMIM:611881 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
Capillary Malformation-Arteriovenous Malformation |
|
Nonimmune hydrops fetalis, Epistaxis, Lymphedema, High-output congestive heart failure, Congestiv... |
ORPHA:137667 |
Hennekam Syndrome |
|
Lymphopenia, Lymphedema, Pericardial effusion, Splenomegaly, Hydrops fetalis, Chylothorax, Ascites |
ORPHA:2136 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Telangiectasia of extensor surfaces, Faci... |
OMIM:137940 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Arrhythmia, Hydrops fetalis, Reflex a... |
ORPHA:79329 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Nonimmune hydrops fetalis, Anisocytosis, Edema, Splenomegaly, ... |
ORPHA:79277 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Nonimmune hydrops fetalis, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Facial edema, Splenomegaly, Hemophagocytosis, Anemia |
OMIM:618398 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Nonimmune hydrops fetalis |
OMIM:618265 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Thickened nuchal skin fold, Nonimmune hydrops fetalis, Polyhydramnios, Asplenia, Right-to-left sh... |
OMIM:265380 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Dehydration, Neutropenia, Anemia |
OMIM:251110 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Dehydration, Portal fibrosis, Hepatic fibrosis, Pr... |
OMIM:619377 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... |
OMIM:603554 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Nonimmune hydrops fetalis, Edema, Splenomegaly, Abnormality of the amniotic flu... |
ORPHA:95159 |
Hemochromatosis, Type 5 |
|
Anemia, Elevated hepatic iron concentration |
OMIM:615517 |
Generalized Arterial Calcification Of Infancy |
|
Transient ischemic attack, Polyhydramnios, Edema, Pericardial effusion, Hydrops fetalis, Hepatic ... |
ORPHA:51608 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Arrhythmia |
OMIM:153400 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... |
OMIM:276700 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardial effusion, Pleural effusion |
OMIM:235510 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum... |
OMIM:127550 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Periorbital edema, Splenomegaly, Thrombocytopenia, L... |
OMIM:617591 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Thrombocytopenia, Lymphopenia, Portal hypertension |
OMIM:620365 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Abnormality of the liver, Anemia |
ORPHA:44890 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... |
OMIM:208150 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Hypersplen... |
ORPHA:275761 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Jaundice, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia |
OMIM:105600 |
Nephronophthisis 11 |
|
Hepatic fibrosis, Anemia |
OMIM:613550 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Fingerpa... |
OMIM:600376 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Tricuspid stenosis, Edema, Valvular pulmonary stenosis, Hydrops fetalis,... |
OMIM:212093 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Decreased fetal movement, Hydrops fetalis |
OMIM:265000 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, High-out... |
OMIM:187300 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis |
OMIM:602522 |
Blomstrand Lethal Chondrodysplasia |
|
Premature birth, Hydrops fetalis, Polyhydramnios |
ORPHA:50945 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrops fetalis, Polyhydramnios |
OMIM:616546 |
Mycophenolate Mofetil Embryopathy |
|
Hydrops fetalis |
ORPHA:268249 |
Yunis-Varon Syndrome |
|
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Renovascular hypertension, Hypert... |
ORPHA:3472 |
Phocomelia, Schinzel Type |
|
Hydrops fetalis |
ORPHA:2879 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Congenital hepatic fibrosis, Hydrops fetalis |
ORPHA:93271 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Telangiectasia, Hematochezia, Mitral regurgitation, Hepatic arteriovenous malformation... |
OMIM:175050 |
Yunis-Varon Syndrome |
|
Premature birth, Polyhydramnios, Hydrops fetalis, Heart murmur, Cardiomyopathy, Pulmonary arteria... |
OMIM:216340 |