Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... |
OMIM:615631 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Dementia, Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Cirrhosis, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Elevated circulating hepcidin concentration, Poikilo... |
OMIM:206200 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac septum morphology |
ORPHA:3319 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... |
OMIM:237800 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... |
OMIM:224120 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Jaundice, Fava bean-induced hemolytic anemia, Reti... |
OMIM:300908 |
Cyanosis, Transient Neonatal |
|
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia |
OMIM:613977 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... |
ORPHA:846 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Bone marrow hypocellularity, Macrocytic anemia, Thr... |
OMIM:300835 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticu... |
ORPHA:71275 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy... |
OMIM:618963 |
Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Ventricular septal defect, Atrial septal defect, Poik... |
OMIM:258900 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... |
OMIM:616689 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Generalized aminoaciduria, Hepatomegaly, Acute hepatic failure, Splenom... |
ORPHA:882 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Splenomegaly, Hepatomegaly |
OMIM:619175 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Ch... |
ORPHA:848 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia |
OMIM:608898 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... |
OMIM:607616 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... |
OMIM:603552 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia |
ORPHA:228312 |
Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Sp... |
OMIM:616649 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Hepatomegaly, Sp... |
OMIM:185000 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... |
OMIM:616959 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... |
ORPHA:232 |
Hemochromatosis, Type 2B |
|
Anemia, Splenomegaly, Cirrhosis, Hepatic fibrosis, Elevated transferrin saturation, Increased cir... |
OMIM:613313 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... |
ORPHA:231226 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... |
OMIM:269600 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Sp... |
OMIM:182900 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease, Malformation of the hepatic ductal plate, Bile ... |
OMIM:616217 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, ... |
OMIM:235700 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Increased circulating ferritin concentration, Hemoph... |
OMIM:613101 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... |
OMIM:615234 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Intermittent jaun... |
ORPHA:3202 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating aspar... |
OMIM:620010 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Unconjugated hyperbi... |
OMIM:618278 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Eosinophilia, Myeloproliferative disorder, Hepa... |
OMIM:607685 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
Sandhoff Disease |
|
Motor deterioration, Progressive psychomotor deterioration, Splenomegaly, Hepatomegaly |
ORPHA:796 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Hepatomegaly |
OMIM:604273 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reti... |
OMIM:266200 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect, Reticulocytopenia, Macrocytic anemia, Elevated red cell adenosine deam... |
OMIM:615550 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... |
OMIM:615558 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly |
OMIM:617068 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
X-Linked Sideroblastic Anemia |
|
Anemia, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... |
OMIM:614470 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated... |
OMIM:619658 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Progressive Familial Intrahepatic Cholestasis |
|
Cognitive impairment, Jaundice, Cholestasis, Hepatomegaly, Splenomegaly |
ORPHA:172 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly |
OMIM:271500 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... |
OMIM:617514 |
Glut1 Deficiency Syndrome 2 |
|
Reduced haptoglobin level, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:612126 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Jaundice, Portal fib... |
OMIM:616278 |
Elliptocytosis 1 |
|
Elliptocytosis, Splenomegaly, Hemolytic anemia, Jaundice |
OMIM:611804 |
Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100024 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... |
ORPHA:79301 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia, Decreased circulating cortisol level, Elevated circulating creatine kinase ... |
OMIM:618838 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
N Syndrome |
|
Abnormality of chromosome stability |
OMIM:310465 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Increased serum bile acid c... |
OMIM:619868 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly |
OMIM:105200 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hypertrigly... |
OMIM:618398 |
Sclerosing Cholangitis, Neonatal |
|
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jau... |
OMIM:617394 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Neonatal hyperbilirubinemia, Increased circulating ferritin co... |
OMIM:618892 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
Galactosemia Iii |
|
Aminoaciduria, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly |
OMIM:230350 |
Diamond-Blackfan Anemia 4 |
|
Reticulocytopenia, Erythroid hypoplasia, Atrial septal defect, Macrocytic anemia, Neutropenia |
OMIM:612527 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Splenomegaly, Hepatomegaly |
ORPHA:417 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Jaund... |
OMIM:194380 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... |
OMIM:618849 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615085 |
Coproporphyria, Hereditary |
|
Jaundice, Hepatomegaly, Anxiety, Increased urinary porphobilinogen, Splenomegaly, Elevated urinar... |
OMIM:121300 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Tangier Disease |
|
Chronic noninfectious lymphadenopathy, Anemia, Coronary artery stenosis, Left ventricular hypertr... |
ORPHA:31150 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Jaundice, Acholic stools, Steatorrhea, Intrahepatic cholestasis, Giant cell hepatitis,... |
OMIM:607765 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability |
OMIM:614082 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... |
OMIM:602347 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... |
ORPHA:288 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... |
ORPHA:2585 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg... |
OMIM:214900 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... |
OMIM:613011 |
Congenital Toxoplasmosis |
|
Anemia, Ascites, Jaundice, Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thrombocytopenia |
ORPHA:858 |
Sitosterolemia 1 |
|
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Elevate... |
OMIM:210250 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... |
OMIM:209950 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... |
OMIM:612561 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Thrombocytopenia, Irritability, Splenomegaly |
OMIM:615010 |
Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Cirrhosis, Abnormality of iron homeostasis, Abnormality of the liver, Increased H... |
ORPHA:231222 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
OMIM:306000 |
Cholesteryl Ester Storage Disease |
|
Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
ORPHA:75234 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Chol... |
OMIM:616828 |
Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri... |
OMIM:612526 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... |
OMIM:612840 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... |
OMIM:226990 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... |
OMIM:207750 |
Diamond-Blackfan Anemia 5 |
|
Leukopenia, Ventricular septal defect, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia |
OMIM:612528 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Cognitive impairment, Periportal f... |
ORPHA:64743 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:611490 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hepatic steatosis, Hypocholesterolemia, Increased hepatocellul... |
ORPHA:71 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Splenomegaly, Hepatomegaly |
OMIM:618107 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Dementia, Progressive neurologic deterioration, Hepatomegaly, Thrombocytopenia, Spl... |
OMIM:231000 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Steatorrhea, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of inadequate prod... |
OMIM:612714 |
Tempi Syndrome |
|
Increased hematocrit, Ascites, Polycythemia |
ORPHA:284227 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... |
OMIM:613470 |
Sickle Cell Disease |
|
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Leuko... |
OMIM:603903 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Cirrhosis, Hepatocellular carcinoma, Splenomegaly |
OMIM:613490 |
Wolman Disease |
|
Anemia, Steatorrhea, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:75233 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Increased hepatic echogenic... |
OMIM:278000 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage, Neonatal death |
OMIM:613390 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Anemia, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, ... |
OMIM:618886 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:301083 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas... |
OMIM:619463 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... |
OMIM:246700 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatiti... |
OMIM:613812 |
Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Hemolytic an... |
ORPHA:79277 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Elevated circulating alanine aminotransferase concentration, Nephrotic sy... |
OMIM:615559 |
Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy, Hemolytic anemia, Hepatomegaly |
ORPHA:56425 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Irritability, Splenomegaly |
OMIM:613489 |
Griscelli Syndrome Type 2 |
|
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Neutrope... |
ORPHA:79477 |
Fish-Eye Disease |
|
Lymphadenopathy, Decreased HDL cholesterol concentration, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Hepatitis, Lymphadenopathy, Inc... |
ORPHA:158061 |
Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Increased circulating NT-proBNP... |
ORPHA:85451 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hepatic failure, Splenomegaly |
ORPHA:664 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H... |
OMIM:603554 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... |
OMIM:267700 |
Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:100026 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... |
ORPHA:231214 |
Hereditary Spherocytosis |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolyti... |
ORPHA:822 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Follicular Lymphoma |
|
Splenomegaly, Lymphadenopathy, Abnormality of the peritoneum, Mediastinal lymphadenopathy |
ORPHA:545 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Immunodeficiency 54 |
|
Chromosome breakage |
OMIM:609981 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Hypoplasia of penis, Hypospadias, Abnormality of the ureter, Ascites, Splenomegaly |
ORPHA:1046 |
Ataxia-Telangiectasia |
|
Abnormality of chromosome stability |
ORPHA:100 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... |
OMIM:601847 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... |
OMIM:615513 |
Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Splenomegaly, Hepatomegaly |
OMIM:261750 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Hyperlipoproteinemia, Type I |
|
Jaundice, Pancreatitis, Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemi... |
OMIM:238600 |
Fanconi Anemia, Complementation Group T |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
Fanconi Anemia, Complementation Group D1 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:605724 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Renal insufficiency, ... |
OMIM:208540 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera... |
OMIM:613027 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... |
OMIM:301078 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Jaundice, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly,... |
OMIM:235555 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly |
ORPHA:59303 |
Wilson Disease |
|
Cirrhosis, Anemia, Aggressive behavior, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepat... |
ORPHA:905 |
Fanconi Anemia, Complementation Group U |
|
Patent ductus arteriosus, Chromosome breakage |
OMIM:617247 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Decreased LDL cholesterol concentration, Pancreatitis, Hyperlipoproteinem... |
OMIM:615947 |
Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Hyperproteinemia, Hyperuricemia, Increased r... |
ORPHA:90041 |
Mucopolysaccharidosis, Type Iiib |
|
Aggressive behavior, Progressive neurologic deterioration, Hepatomegaly, Cardiomegaly, Splenomega... |
OMIM:252920 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Splenomegaly, Hepatomegaly |
OMIM:602390 |
Budd-Chiari Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Portal hypertens... |
ORPHA:131 |
Pfapa Syndrome |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:42642 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Increased size of nasopharyngeal adenoids, Ventricular septal defect, Atrial septal defect, Persi... |
OMIM:619769 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, Prolonged ne... |
OMIM:257200 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Cirrhosis, Increased total iron binding capacity, Unconjugated hyperbilirubine... |
OMIM:613280 |
Caroli Disease |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Periportal fibrosis, Elevated circulating alanine... |
ORPHA:53035 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... |
OMIM:618534 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Steatorrhea, Myocardia... |
OMIM:260400 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Abno... |
ORPHA:96180 |
Infantile Liver Failure Syndrome 3 |
|
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasi... |
OMIM:618641 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage |
OMIM:617883 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Renal insufficiency, Pe... |
OMIM:263200 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... |
OMIM:211600 |
Abetalipoproteinemia |
|
Anemia, Decreased LDL cholesterol concentration, Hepatic fibrosis, Cirrhosis, Hyperbilirubinemia,... |
ORPHA:14 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Anemia, Normocytic anemia, Hyperbilirubinemia, Jaundice, Elevated circ... |
OMIM:611881 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Farber Lipogranulomatosis |
|
Irritability, Splenomegaly, Hepatomegaly, Lipogranulomatosis |
OMIM:228000 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Steatorrhea, Elevated circulating phytanic acid concentration, Hepatomegaly |
OMIM:266510 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... |
ORPHA:98848 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascites, Aplas... |
OMIM:615122 |
Icf Syndrome |
|
Abnormality of chromosome stability, Umbilical hernia |
ORPHA:2268 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:618495 |
Adams-Oliver Syndrome 6 |
|
Portal hypertension, Hepatic fibrosis, Renal hypoplasia, Splenomegaly |
OMIM:616589 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Increased mean platelet volume |
OMIM:153670 |
Autoimmune Hepatitis |
|
Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steatosis, Hepatocellular... |
ORPHA:2137 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati... |
OMIM:231005 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... |
OMIM:615387 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia, Patent foramen ovale, Atrial septal defect |
OMIM:610883 |
Squalene Synthase Deficiency |
|
Decreased LDL cholesterol concentration, Bicuspid aortic valve, Elevated circulating methylsuccin... |
OMIM:618156 |
Coach Syndrome 1 |
|
Hepatic fibrosis, Cirrhosis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease... |
OMIM:216360 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Intrahepatic biliary atresia, Hepatic fibrosis, Hepatic failure, Sclerosing cholangitis, Jaundice... |
OMIM:607626 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Nephrotic syndrome, Coombs-positiv... |
OMIM:603909 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... |
ORPHA:567983 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Dark yellow urine, Jaundice, Elevated hepati... |
ORPHA:30391 |
Cryoglobulinemic Vasculitis |
|
Abnormality of the liver, Hematuria, Viral hepatitis, Mediastinal lymphadenopathy, Hepatomegaly, ... |
ORPHA:91138 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Abnormality of chromosome stability |
OMIM:300514 |
Neonatal Lupus Erythematosus |
|
Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Elevated hepati... |
ORPHA:398124 |
Primary Myelofibrosis |
|
Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphaden... |
ORPHA:824 |
Transaldolase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Anemia, Pancytopenia, Hepatosplenomegaly, Micronodular cirrhosis, He... |
OMIM:606003 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic fibrosis, Pericardial effusion, Steatorrhea, Pericarditis, Hepatic steatosis, Thrombocyto... |
OMIM:212065 |
Lig4 Syndrome |
|
Abnormality of chromosome stability |
ORPHA:99812 |
Niemann-Pick Disease, Type C1 |
|
Sea-blue histiocytosis, Dementia, Fetal ascites, Bone-marrow foam cells, Hepatomegaly, Fatal live... |
OMIM:257220 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Hypertrophic cardiomyopathy, Hepatomegaly |
OMIM:618810 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Prolonged neonatal jaundice, Elevated amniotic fluid alpha-fetoprotein |
ORPHA:423479 |
Fanconi Anemia, Complementation Group I |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609053 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Ventricular septal defect, Reticulocytopenia, Pure red cell a... |
ORPHA:124 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Renal tubular acidosis, Hepatocellular carcinoma, Abnormal erythrocy... |
ORPHA:370 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Reduced renal corticomedullary differenti... |
ORPHA:731 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Hemolytic anemia, Nephrotic syndrome, Lymphopenia, Hepatosplenomegaly, Acute pancr... |
OMIM:618935 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... |
OMIM:602450 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:85414 |
Fanconi Anemia, Complementation Group N |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Gaucher Disease Type 1 |
|
Leukopenia, Cirrhosis, Anemia, Hypersplenism, Hematuria, Pancytopenia, Biliary tract obstruction,... |
ORPHA:77259 |
Immunodeficiency 47 |
|
Leukopenia, Hepatic fibrosis, Cirrhosis, Elevated circulating alanine aminotransferase concentrat... |
OMIM:300972 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Jaundice, Autoimmune hemolytic anemia, Abnormal urinary color, Spleno... |
ORPHA:90033 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Hepatomegaly, Decreased l... |
OMIM:301068 |
Alg12-Cdg |
|
Patent foramen ovale, B lymphocytopenia, Biventricular hypertrophy, Muscular ventricular septal d... |
ORPHA:79324 |
Lead Poisoning |
|
Abnormal T cell morphology, Anemia, Imbalanced hemoglobin synthesis, Increased LDL cholesterol co... |
ORPHA:330015 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:619183 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia |
ORPHA:99867 |
Duodenal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Increased hematocrit, Insulinoma, Lymphadenopathy, Tricuspid stenosis, ... |
ORPHA:100076 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:620133 |
Niemann-Pick Disease, Type C2 |
|
Sea-blue histiocytosis, Jaundice, Dementia, Fetal ascites, Bone-marrow foam cells, Hepatomegaly, ... |
OMIM:607625 |
Secondary Intestinal Lymphangiectasia |
|
Cirrhosis, Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transfer... |
ORPHA:90363 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:210900 |
Tyrosinemia, Type I |
|
Cirrhosis, Anemia, Renal insufficiency, Hepatic failure, Enlarged kidney, Hepatocellular carcinom... |
OMIM:276700 |
Hereditary Orotic Aciduria |
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Aminoaciduria, Anemia, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Splen... |
ORPHA:30 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Chromosomal breakage induced by crosslinking agents |
OMIM:614083 |
Fanconi Anemia, Complementation Group F |
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Patent ductus arteriosus, Chromosomal breakage induced by crosslinking agents |
OMIM:603467 |
Wilson Disease |
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Aminoaciduria, Hyperphosphaturia, Hepatocellular carcinoma, Hepatic steatosis, Hepatomegaly, Thro... |
OMIM:277900 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
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Splenomegaly, Leukocytosis |
OMIM:618042 |
Glycogen Storage Disease Ib |
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Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Elevated hepatic transaminase, Focal seg... |
OMIM:232220 |
Cartilage-Hair Hypoplasia |
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Spinal dysraphism, Abnormality of chromosome stability |
ORPHA:175 |
Primary Sclerosing Cholangitis |
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Cholangiocarcinoma, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatosplenomegaly, ... |
ORPHA:171 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Hepatitis, Splenic cyst, Polycystic ki... |
OMIM:610199 |
Acute Panmyelosis With Myelofibrosis |
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Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... |
ORPHA:86843 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Ventricular septal defect, Reduced alpha/beta synthesis ratio, Perimembranous ventricular septal ... |
OMIM:301040 |
Congenital Tricuspid Valve Dysplasia |
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Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
Heterotaxy, Visceral, 1, X-Linked |
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Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Abdominal sit... |
OMIM:306955 |
Revesz Syndrome |
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Abnormality of chromosome stability |
OMIM:268130 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Anemia, Abnormal hemoglobin |
ORPHA:847 |
Fanconi Anemia |
|
Patent ductus arteriosus, Spina bifida, Abnormality of chromosome stability, Umbilical hernia |
ORPHA:84 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... |
ORPHA:2442 |
Fanconi Anemia, Complementation Group E |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:227650 |
Fanconi Anemia, Complementation Group D2 |
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Patent ductus arteriosus, Chromosomal breakage induced by crosslinking agents |
OMIM:227646 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233710 |
Fanconi Anemia, Complementation Group C |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:227645 |
Dubowitz Syndrome |
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Hypocholesterolemia, Aplastic anemia, Acute lymphoblastic leukemia |
OMIM:223370 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233690 |
Nijmegen Breakage Syndrome |
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Abnormality of chromosome stability |
ORPHA:647 |
Kaufman Oculocerebrofacial Syndrome |
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Hypocholesterolemia, Ventricular septal defect, Atrial septal defect |
OMIM:244450 |
Riddle Syndrome |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
Smith-Lemli-Opitz Syndrome |
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Cirrhosis, Ventricular septal defect, Atrial septal defect, Hepatic steatosis, Hypertrophic cardi... |
OMIM:270400 |
Meningioma |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:2495 |