Hemoglobin H Disease |
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Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Tyrosinemia Type 1 |
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Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
Hypereosinophilic Syndrome, Idiopathic |
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Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Hyperbilirubinemia, Shunt, Primary |
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Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Erythroleukemia, Familial, Susceptibility To |
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Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Portal Hypertension, Noncirrhotic, 1 |
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Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase |
OMIM:617068 |
Nephronophthisis 19 |
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Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
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Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Alpha-1-Antitrypsin Deficiency |
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Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure |
ORPHA:60 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
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Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
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Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Sclerosing Cholangitis, Neonatal |
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Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... |
OMIM:617394 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... |
OMIM:615415 |
Lissencephaly Syndrome, Norman-Roberts Type |
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Atrial septal defect, Hypoplastic spleen, Patent foramen ovale |
ORPHA:89844 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
Dehydrated Hereditary Stomatocytosis 2 |
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Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Microphthalmia, Syndromic 9 |
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Ventricular septal defect, Hypoplastic left atrium, Multilobulated spleen, Hypoplastic spleen, Re... |
OMIM:601186 |
Gracile Bone Dysplasia |
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Asplenia, Hypoplastic spleen, Ascites, Micropenis |
OMIM:602361 |
Stormorken Syndrome |
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Howell-Jolly bodies, Asplenia, Anemia, Hematuria, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Pearson Syndrome |
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Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega... |
ORPHA:699 |
Mirage Syndrome |
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Hypospadias, Anemia, Leukopenia, Microphallus, Hypoplastic spleen, Lymphopenia, Thrombocytopenia |
OMIM:617053 |