| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... |
OMIM:615234 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... |
OMIM:616689 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Cirrhosis, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... |
OMIM:616860 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... |
OMIM:206100 |
| Diamond-Blackfan Anemia-Like |
|
Pure red cell aplasia, Steroid-responsive anemia |
OMIM:617911 |
| Hemochromatosis, Type 5 |
|
Anemia, Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circ... |
OMIM:615517 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Sp... |
OMIM:616649 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... |
OMIM:237800 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Sp... |
OMIM:182900 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Decreased transferrin s... |
ORPHA:300298 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies |
OMIM:614164 |
| Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... |
OMIM:615631 |
| Glut1 Deficiency Syndrome 2 |
|
Reduced haptoglobin level, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:612126 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies |
OMIM:140700 |
| Cyanosis, Transient Neonatal |
|
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia |
OMIM:613977 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
| Hereditary Spherocytosis |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolyti... |
ORPHA:822 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticu... |
ORPHA:71275 |
| Harderoporphyria |
|
Increased urine harderoporphyrin level, Hemolytic anemia, Red urine, Reticulocytosis, Neonatal hy... |
OMIM:618892 |
| Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatosplenomegaly |
ORPHA:33574 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... |
OMIM:205950 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Intermittent jaun... |
ORPHA:3202 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Hepatomegaly, Sp... |
OMIM:185000 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Proximal tubulopathy, Cirrhosis, Abnormality of iron homeostasis, Abnormality of ... |
ORPHA:231222 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... |
ORPHA:232 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... |
OMIM:613673 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Hemoglobinuria, Jaundice, Fava bean-induced hemoly... |
OMIM:300908 |
| Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... |
ORPHA:846 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia |
ORPHA:228312 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... |
OMIM:232800 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reti... |
OMIM:266200 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... |
OMIM:224120 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, ... |
OMIM:235700 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:301083 |
| Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Elevated circulating hepcidin concentration, Poikilo... |
OMIM:206200 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
| Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... |
ORPHA:288 |
| Developmental And Epileptic Encephalopathy 50 |
|
Anemia, Renal tubular acidosis, Anisopoikilocytosis, Schistocytosis, Hyperammonemia, Acanthocytosis |
OMIM:616457 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Hemog... |
OMIM:194380 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
| Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Pyropoikilocytosis, Hereditary |
|
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis |
OMIM:266140 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Decreased HDL cholesterol concentration, Proteinuria, Renal insufficiency, Hype... |
OMIM:245900 |
| Porphyria, Acute Hepatic |
|
Hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:612740 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Hypokalemia, Isothenuria, Reticulocytosis, Hepatosplenomegaly, Decreased mean c... |
OMIM:611590 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:230450 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Hyperkalemia, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... |
ORPHA:90044 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
| Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
| Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
| Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
| Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine |
OMIM:231900 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Beta-Thalassemia Major |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... |
ORPHA:231214 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Elevated hepatic transaminase,... |
ORPHA:98870 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Hemolytic anemia, Nephrotic syndrome, Acute kidney injury, Stage 5 chr... |
OMIM:615008 |
| Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Acute kidney injury, Microangiopathic hemolytic anemia, Hematuria, Decreased... |
ORPHA:54057 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615010 |
| Elliptocytosis 2 |
|
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
| Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Microangiopathic hemolytic anemia, Hematuria, Proteinuria, Thrombocytopenia |
ORPHA:2134 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
| Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... |
OMIM:261000 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... |
ORPHA:35858 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... |
OMIM:614470 |
| Sitosterolemia 1 |
|
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Elevate... |
OMIM:210250 |
| Heme Oxygenase 1 Deficiency |
|
Asplenia, Elevated circulating alanine aminotransferase concentration, Hemolytic anemia, Coombs-p... |
OMIM:614034 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... |
OMIM:612840 |
| Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... |
OMIM:601775 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
3-Methylglutaconic aciduria, Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
| Hemochromatosis, Type 2B |
|
Anemia, Splenomegaly, Cirrhosis, Hepatic fibrosis, Elevated transferrin saturation, Elevated hepa... |
OMIM:613313 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:619398 |
| Glutathione Synthetase Deficiency |
|
Neutropenia, Hemolytic anemia, Increased level of L-pyroglutamic acid in urine |
OMIM:266130 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
| Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Porphyrinuria, Periportal fibrosis, Decreased circu... |
ORPHA:101330 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria, Anemia, Increased hepatic glycogen content, Copper accumulation in liver, Elevated... |
OMIM:614946 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... |
OMIM:617514 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Exercise-induced myoglobinuria, Erythroid hyperplasia, Reticulocytosis, Renal i... |
OMIM:300653 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Anemia, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
| Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy... |
OMIM:618963 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:611490 |
| Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Elevated transferrin saturation, Increased circulati... |
OMIM:620121 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Decreased hemoglobin concentration, Renal ... |
ORPHA:713 |
| Primary Myelofibrosis |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytosis, Leukoc... |
ORPHA:824 |
| Elliptocytosis 1 |
|
Elliptocytosis, Splenomegaly, Hemolytic anemia, Jaundice |
OMIM:611804 |
| Aceruloplasminemia |
|
Hepatic fibrosis, Cirrhosis, Aceruloplasminemia, Decreased circulating ceruloplasmin concentratio... |
ORPHA:48818 |
| Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly, Trimethylaminuria |
OMIM:602079 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
| Galactosemia I |
|
Aminoaciduria, Cirrhosis, Increased level of galactonate in red blood cells, Hypergalactosemia, H... |
OMIM:230400 |
| Rh-Null, Regulator Type |
|
Stomatocytosis, Jaundice, Hemolytic anemia, Unconjugated hyperbilirubinemia |
OMIM:268150 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Prolonged neonatal jaundice, Microangiopathic hemolytic anemia, Jaundi... |
OMIM:274150 |
| Hemolytic Anemia, Congenital, X-Linked |
|
Jaundice, Dark urine, Hemolytic anemia |
OMIM:301015 |
| Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Hepatitis, Hepatomegaly, Cholelithiasis, Thrombocytopeni... |
ORPHA:848 |
| Cold Agglutinin Disease |
|
Hemolytic anemia, Lymphadenopathy, Abnormal urinary color, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia, Decreased plasma carnitine |
OMIM:611283 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
| Protoporphyria, Erythropoietic, 1 |
|
Hepatic failure, Hypertriglyceridemia, Hemolytic anemia, Cholelithiasis |
OMIM:177000 |
| Babesiosis |
|
Leukopenia, Hepatic failure, Renal insufficiency, Hemolytic anemia, Jaundice, Hepatomegaly, Throm... |
ORPHA:108 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Abnormal serum iron concentration, Abnormal transferrin saturation, Increased circulating ferriti... |
ORPHA:254704 |
| Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Decreased LDL cholesterol concentration, Acanthocytosis |
OMIM:607236 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... |
OMIM:603552 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Increased total iron binding capacity, Hyperbilirubinemia, Jau... |
OMIM:616278 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... |
OMIM:616959 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
| Hyperlysinemia, Type I |
|
Hyperlysinemia, Anemia, Hyperlysinuria |
OMIM:238700 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... |
OMIM:619041 |
| Lcat Deficiency |
|
Renal insufficiency, Hemolytic anemia, Acute kidney injury, Stage 5 chronic kidney disease, Decre... |
ORPHA:650 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia |
OMIM:608898 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, Myo... |
ORPHA:57 |
| 8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Splenomegaly, Spherocytosis |
ORPHA:251066 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia, Reticu... |
OMIM:235400 |
| Elliptocytosis 3 |
|
Intermittent jaundice, Elliptocytosis, Decreased mean corpuscular volume, Chronic hemolytic anemi... |
OMIM:617948 |
| Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
| Gracile Syndrome |
|
Cirrhosis, Decreased transferrin saturation, Hepatic steatosis, Increased circulating ferritin co... |
ORPHA:53693 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... |
OMIM:607616 |
| Sickle Cell Disease |
|
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Hemat... |
OMIM:603903 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Bone marrow hypocellularity, Macrocytic anemia, Thr... |
OMIM:300835 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... |
ORPHA:231226 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Autoimmune Hemolytic Anemia |
|
Splenomegaly, Abnormal leukocyte morphology, Abnormal urinary color, Hemolytic anemia |
ORPHA:98375 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
| Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration |
OMIM:618015 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612926 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
| African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Elevated transferrin saturation, Hepatocellular carcinoma, Hepatic b... |
ORPHA:139507 |
| 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 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, M... |
OMIM:612925 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612924 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Increased circulating ferritin concentration, Hemoph... |
OMIM:613101 |
| Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
| Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Nephropathy, Lymphadenopathy, Hepatomegaly, Bence Jones Proteinuri... |
ORPHA:100024 |
| Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas |
ORPHA:1195 |
| Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Anemia, Elevated circulating alanine aminotransferase concentration, N... |
OMIM:611881 |
| Abetalipoproteinemia |
|
Abetalipoproteinemia, Acanthocytosis |
OMIM:200100 |
| Lathosterolosis |
|
Bilobate gallbladder, Abnormal circulating cholesterol concentration, Anisopoikilocytosis, Hyperb... |
OMIM:607330 |
| Nephronophthisis |
|
Anemia, Renal insufficiency |
ORPHA:655 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Abnormal serum bile acid concentration, Hyperbilirubinemia, Jaundice, Elevated h... |
ORPHA:79303 |
| Mcleod Syndrome |
|
Reduced haptoglobin level, Elevated circulating alanine aminotransferase concentration, Elevated ... |
OMIM:300842 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
| Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Hematuria, Poikilocytosis, Oroticaciduria, Anisocytos... |
OMIM:258900 |
| Anemia, Autoimmune Hemolytic |
|
Autoimmune hemolytic anemia |
OMIM:205700 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Microvesicular hepatic steatosis, Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytos... |
OMIM:618278 |
| Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia |
OMIM:153550 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:259710 |
| Malaria |
|
Anemia, Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentr... |
ORPHA:673 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Anisopoikilocytosis, Anemia |
OMIM:615789 |
| Lathosterolosis |
|
Hepatic failure, Anisopoikilocytosis, Hypoplasia of penis, Intrahepatic cholestasis, Abnormal pla... |
ORPHA:46059 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Ovalocytosis, Southeast Asian |
|
Elliptocytosis, Hemolytic anemia |
OMIM:166900 |
| Hemochromatosis, Type 3 |
|
Anemia, Cirrhosis, Elevated transferrin saturation, Elevated hepatic transaminase, Lymphopenia, I... |
OMIM:604250 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat... |
OMIM:615558 |
| Atransferrinemia |
|
Abnormality of the liver, Atransferrinemia, Hypochromic anemia |
OMIM:209300 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Hyperkalemia, Hepatomegaly, Splenomegaly, Conjugated ... |
OMIM:608885 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume |
OMIM:620044 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly |
ORPHA:163596 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Nephritis, Lupus nephritis, Thrombocytopenia |
OMIM:152700 |
| Hemochromatosis, Type 4 |
|
Anemia, Cirrhosis, Elevated transferrin saturation, Hepatic steatosis, Increased circulating ferr... |
OMIM:606069 |
| Neonatal Lupus Erythematosus |
|
Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Elevated hepati... |
ORPHA:398124 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia |
OMIM:615399 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental glomeruloscl... |
OMIM:603278 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Hepatosplenomegaly, Anemia, Distal renal tubular acidosis, Extramedullary hematopoiesis |
OMIM:259730 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia |
OMIM:612300 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Nephrotic syndrome, Coombs-positiv... |
OMIM:603909 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... |
OMIM:618849 |
| Choreoacanthocytosis |
|
Acanthocytosis, Elevated circulating creatine kinase concentration |
OMIM:200150 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
| Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... |
OMIM:209950 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... |
OMIM:269600 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Unconjugated hyperbilirubinemia, Acute kidney injury, Microangiopathic hemolytic anemia, ... |
ORPHA:90038 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Splenomegaly, Hepatomegaly |
OMIM:619175 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hypertrigly... |
OMIM:618398 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Increased mean platelet volume |
OMIM:153670 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Hemolytic anemia, Nephrotic syndrome, Lymphopenia, Hepatosplenomegaly, Acute pancr... |
OMIM:618935 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoal... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoal... |
ORPHA:529799 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic steatosis, Hypocholesterolemia, Incr... |
ORPHA:71 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Anemia, Hyperuricemia |
ORPHA:371 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Decreased serum iron, Reticulocytosis, Hemosiderinuria, Thromboc... |
ORPHA:447 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615085 |
| Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Macrocytic anemia, Reticulocytopenia, Normochromic a... |
OMIM:615550 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Elevated circulating alanine aminotransferase concentration, Hyperbilirubinemia, Jaundice, Elevat... |
OMIM:620010 |
| Aceruloplasminemia |
|
Anemia, Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration |
OMIM:604290 |
| Paroxysmal Cold Hemoglobinuria |
|
Coombs-positive hemolytic anemia, Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobin... |
ORPHA:90035 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia |
OMIM:612527 |
| Acute Erythroid Leukemia |
|
Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity |
ORPHA:318 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Hepatic failure, Hyperbilirubinemia, Hypocalcemia, Pancytopenia, Hepatosplenomegaly, Hypo... |
OMIM:259720 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria, Hemolytic anemia |
OMIM:266120 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph... |
OMIM:613011 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... |
OMIM:619868 |
| Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Elevated hepatic transaminase, Pancytopenia, ... |
ORPHA:507 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... |
OMIM:226990 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Diamond-Blackfan Anemia 5 |
|
Leukopenia, Reticulocytopenia, Erythroid hypoplasia, Hypospadias, Macrocytic anemia |
OMIM:612528 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:169090 |
| Formiminoglutamic Aciduria |
|
Abnormal concentration of acylcarnitine in the urine, Anemia, Megaloblastic anemia, Abnormal circ... |
ORPHA:51208 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Ascites, Splenomegaly |
ORPHA:1046 |
| Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Hepatitis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephri... |
OMIM:304790 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... |
OMIM:614480 |
| Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... |
ORPHA:2585 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Glomerulonephritis, Lymphopenia |
OMIM:247800 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hepatic ... |
ORPHA:158057 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Elevated circulating alanine aminotransferase concentration, Nephrotic sy... |
OMIM:615559 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, B lymphocytopenia, Sideroblastic anemia, Hypochromic microcytic anemia, Schistocyt... |
OMIM:616084 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cirrhosis, Hepatic failure, Cholestatic liver disease, Decreased circulating ceruloplasmin concen... |
OMIM:616828 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity |
OMIM:615715 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Anemia, Pancytopenia, Increased circulating ferritin concentra... |
OMIM:616050 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Jaundice, Pancytopenia, Hepatomegaly, Increased mean corpuscular volume, Th... |
OMIM:613839 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Splenomegaly, Hepatomegaly |
OMIM:618107 |
| Kasabach-Merritt Syndrome |
|
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Hepatic hemangioma, Throm... |
ORPHA:2330 |
| Lesch-Nyhan Syndrome |
|
Renal insufficiency, Anemia, Hyperuricemia, Hematuria |
ORPHA:510 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Hyperammonemia, Renal insufficiency, Hepatomegaly |
ORPHA:28 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
| Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
| Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Abnormal liver parenchyma morpholo... |
ORPHA:64743 |
| Galactosemia Iii |
|
Aminoaciduria, Hypergalactosemia, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly |
OMIM:230350 |
| Wilson Disease |
|
Aminoaciduria, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hepatocellul... |
OMIM:277900 |
| Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Elevated circulating alanine am... |
ORPHA:158061 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Renal insufficiency, Pancreatitis, Hyperammonemia, Hepatomegaly, Thrombocytopenia, Neutro... |
ORPHA:79312 |
| Triosephosphate Isomerase Deficiency |
|
Hemolytic anemia, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Cholecystitis, Macrocyti... |
OMIM:615512 |
| Schnitzler Syndrome |
|
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly |
ORPHA:37748 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated... |
OMIM:619658 |
| Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Porphyrinuri... |
ORPHA:79277 |
| Aicardi-Goutieres Syndrome 9 |
|
Anemia, Hepatic fibrosis, Hemolytic anemia, Stage 5 chronic kidney disease, Left ventricular hype... |
OMIM:619487 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Renal insufficiency, Hypercalcemia, Proteinuria |
ORPHA:2668 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Increased m... |
OMIM:277410 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Liver Disease, Severe Congenital |
|
Aminoaciduria, Elevated hepatic transaminase, Portal inflammation, Elevated circulating alpha-fet... |
OMIM:619991 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Hepatomegaly, C... |
OMIM:308230 |
| Familial Benign Copper Deficiency |
|
Anemia, Decreased circulating copper concentration |
ORPHA:1551 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis |
OMIM:604777 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Renal insufficiency, Hypercalcemia, Hepatomegaly, Ascites, Thrombocytopenia |
ORPHA:2123 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
| Copper Deficiency, Familial Benign |
|
Anemia, Decreased circulating copper concentration |
OMIM:121270 |
| Transaldolase Deficiency |
|
Anemia, Cirrhosis, Hepatosplenomegaly, Increased serum bile acid concentration, Abnormal circulat... |
ORPHA:101028 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Anemia, Hyperuricemia, Renal hypoplasia, Proteinuria, Focal segmental glomerulosclerosis, Tubuloi... |
OMIM:613092 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegaly, Hypercholesterolemia... |
OMIM:278000 |
| Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:616176 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Abetalipoproteinemia |
|
Anemia, Decreased LDL cholesterol concentration, Hepatic fibrosis, Cirrhosis, Hyperbilirubinemia,... |
ORPHA:14 |
| Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... |
ORPHA:98826 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Elevated circulating alpha-fetoprotein concentration, Bone marrow hypocellularity, Thromb... |
OMIM:617243 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor... |
OMIM:606367 |
| Fetal Parvovirus Syndrome |
|
Ascites, Anemia, Thrombocytopenia |
ORPHA:295 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hepatome... |
OMIM:300635 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Stomatocytosis, Spontaneous hemolytic crises, Jaundice, Hepatosplenomegaly, Conjugated hyperbilir... |
ORPHA:168577 |
| Pearson Syndrome |
|
Elevated hepatic transaminase, Reticulocytosis, Lacticaciduria, Hepatic steatosis, Bone marrow hy... |
ORPHA:699 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Liver abscess, Neutrophilia,... |
ORPHA:54251 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Cirrhosis, Increased total iron binding capacity, Unconjugated hyperbilirubine... |
OMIM:613280 |
| Myasthenia Gravis |
|
Hemolytic anemia, Glycosuria, Hepatitis, Abnormality of the thymus, Pure red cell aplasia |
ORPHA:589 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
| Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H... |
OMIM:603554 |
| Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Neurogenic bladder, Elevated circulating creatine kinase... |
ORPHA:96180 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Hyperalaninemia, Increased serum pyruvate, Macrocytic anemia, Hyperprolinemia, Splenomegaly |
OMIM:619046 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Membranoproliferative glomerulonephritis, Episodic hemolytic anemia, Increased b... |
ORPHA:251004 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly |
ORPHA:90037 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:172 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... |
OMIM:267700 |
| Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Generalized aminoaciduria, Hepatomegaly, Acute hepatic failure, Splenom... |
ORPHA:882 |
| Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of inadequate production, Splen... |
OMIM:612714 |
| Wolman Disease |
|
Anemia, Hepatic failure, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:75233 |
| Common Variable Immunodeficiency |
|
Abnormality of the liver, Hemolytic anemia, Elevated hepatic transaminase, Lymphopenia, Autoimmun... |
ORPHA:1572 |
| Combined Saposin Deficiency |
|
Abnormal glycosphingolipid metabolism, Splenomegaly, Hepatomegaly |
OMIM:611721 |
| Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... |
ORPHA:3261 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Hyperammonemia, Ascites, Splen... |
OMIM:271500 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Hepatosplenomegaly, In... |
OMIM:618534 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly, Leukocytosis |
OMIM:611762 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:618495 |
| Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Abnormality of the liver, Hyperhomocystinemia, Hypomethioninemia, Panc... |
ORPHA:2169 |
| Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia |
OMIM:608184 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Hyperuricemia, Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Elevated circ... |
OMIM:617056 |
| Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Reduced serum alpha-1-antitrypsin, Elevated hepatic transaminase, Hepatocellular carci... |
OMIM:613490 |
| Hemochromatosis, Type 2A |
|
Cirrhosis, Splenomegaly, Increased circulating ferritin concentration, Hepatomegaly, Increased se... |
OMIM:602390 |
| Cinca Syndrome |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentratio... |
OMIM:607115 |
| Galactose Epimerase Deficiency |
|
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Splenomegaly, Hepatomegaly |
ORPHA:417 |
| Glycogen Storage Disease Ixb |
|
Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Increased muscle glycogen conten... |
OMIM:261750 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hyperlipi... |
OMIM:214900 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatic failure, Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytope... |
OMIM:308240 |
| Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:100026 |
| Mixed Connective Tissue Disease |
|
Leukopenia, Hemolytic anemia, Nephropathy, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenop... |
ORPHA:809 |
| Diamond-Blackfan Anemia 20 |
|
Anemia, Erythroid hypoplasia |
OMIM:618313 |
| Sandhoff Disease |
|
Abnormal glycosphingolipid metabolism, Splenomegaly, Hepatomegaly |
ORPHA:796 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Thrombocytopenia |
OMIM:187800 |
| Idiopathic Aplastic Anemia |
|
Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
ORPHA:88 |
| Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... |
OMIM:615387 |
| Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Anemia, Polyuria, Nephronophthisis |
OMIM:606996 |
| Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
| Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, ... |
OMIM:610333 |
| Hellp Syndrome |
|
Hemolytic anemia, Acute kidney injury, Hemoglobinuria, Microangiopathic hemolytic anemia, Decreas... |
ORPHA:244242 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... |
OMIM:615513 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
| Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt... |
OMIM:619824 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Anemia, Acute kidney injury, Increased circulating ferritin concentration, Leukocy... |
OMIM:618886 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri... |
OMIM:612526 |
| Anemia, Sideroblastic, 1 |
|
Hypochromic microcytic anemia, Anemia of inadequate production, Sideroblastic anemia, Macrocytic ... |
OMIM:300751 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Elevated hepatic transaminase, Pancytope... |
OMIM:603553 |
| Amme Complex |
|
Elliptocytosis, Hematuria |
OMIM:300194 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
| Immunodeficiency 96 |
|
Increased mean corpuscular volume, Multicystic kidney dysplasia, Increased proportion of gamma-de... |
OMIM:619774 |
| Tempi Syndrome |
|
Increased hematocrit, Ascites, Polycythemia |
ORPHA:284227 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:616435 |
| Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatic failure, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, S... |
ORPHA:75234 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level |
OMIM:618858 |
| Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Red urine, Jaundice, Pink urine, Hepatomegaly, Cholelithiasis, Thrombocytopenia... |
OMIM:263700 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
| Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating alanine aminotransferase concentration, Decreased CD4:CD8 ratio, Hepatic fai... |
OMIM:619573 |
| Wilson Disease |
|
Anemia, Cirrhosis, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Acute h... |
ORPHA:905 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hepatosplenomegaly |
ORPHA:313855 |
| Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Nephrotic syndrome, Microangiopathic hemolytic anemia, Hematuria, Lymphopenia, Nephri... |
ORPHA:93552 |
| Shigellosis |
|
Hemolytic-uremic syndrome, Hepatic failure, Acute kidney injury, Microangiopathic hemolytic anemi... |
ORPHA:810 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Anemia, Calcinosis, Hyperphosphaturia, Hypophosphatemia, Polyuria, Hypercalcemia, ... |
OMIM:239200 |
| Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Scrotal hypospadias, Micropenis, Hypospadias |
OMIM:250790 |
| Transcobalamin Ii Deficiency |
|
Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Macrocytic anemia, Hepatomegaly, Methylmal... |
OMIM:275350 |
| Thymic Aplasia |
|
Hypocalcemic tetany, T lymphocytopenia, Coombs-positive hemolytic anemia, Atypical or prolonged h... |
ORPHA:83471 |
| Orthostatic Hypotension 2 |
|
Anemia, Decreased glomerular filtration rate |
OMIM:618182 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni... |
OMIM:300853 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas... |
OMIM:619463 |
| Griscelli Syndrome Type 2 |
|
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hyperlipidemia, Hepatomegaly, Neutrope... |
ORPHA:79477 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia... |
ORPHA:158048 |
| Gaucher Disease, Type Iii |
|
Thrombocytopenia, Splenomegaly, Pancytopenia, Hepatomegaly |
OMIM:231000 |
| Hereditary Orotic Aciduria |
|
Aminoaciduria, Anemia, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Splen... |
ORPHA:30 |
| Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
| Congenital Rubella Syndrome |
|
Anemia, Jaundice, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:290 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
| Cinca Syndrome |
|
Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils, Lymphadenopathy, Elevated ci... |
ORPHA:1451 |
| Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceri... |
OMIM:306000 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Hemolytic anemia, Hypocitraturia, Hypermagnesiuria, Hyperpho... |
ORPHA:18 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Elliptocytosis, Renal insufficiency, Proteinuria, Microscopic hematuria |
ORPHA:86818 |
| Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly |
OMIM:105200 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... |
ORPHA:79301 |
| Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Hyperproteinemia, Hyperuricemia, Increased r... |
ORPHA:90041 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Reduced C-peptide level |
OMIM:610582 |
| Aicardi-Goutieres Syndrome 7 |
|
Anemia, Hemolytic anemia, Nephrotic syndrome, Hepatitis, Generalized lymphadenopathy, Pancytopeni... |
OMIM:615846 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Hypertriglyceridemia, Jaundice, Elevated hepatic transaminase, Abnormal renal physiology,... |
ORPHA:540 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, Prolonged ne... |
OMIM:257200 |
| Coproporphyria, Hereditary |
|
Jaundice, Hepatomegaly, Increased urinary porphobilinogen, Splenomegaly, Elevated urinary delta-a... |
OMIM:121300 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Leukopenia, Anemia, Renal tubular acidosis, Elliptocytosis, Enlarged tonsils, Hypocalcemia, Pancy... |
ORPHA:2785 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Cirrhosis, Hepatic necrosis, Lymphopenia, Bone marrow hypocellularity, Increa... |
OMIM:127550 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... |
OMIM:613179 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
| Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly, Co... |
OMIM:269920 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... |
OMIM:301078 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Anemia, Decreased urinary potassium |
OMIM:611489 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Reduced C-peptide level |
OMIM:606176 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
| Hepatoerythropoietic Porphyria |
|
Abnormal circulating porphyrin concentration, Purple urine, Hemolytic anemia, Red urine, Erythroi... |
ORPHA:95159 |
| Omenn Syndrome |
|
Anemia, Nephrotic syndrome, Lymphadenopathy, Leukocytosis, Eosinophilia, Hepatomegaly, Splenomega... |
ORPHA:39041 |
| Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hepatic failure, Hyperammonemia, Splenomegaly |
ORPHA:664 |
| Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Hematuria, Elevated circulating creatine kinase concentrat... |
OMIM:185070 |
| Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hepatic failure, Hepatocellular nec... |
OMIM:231100 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Elevated hepatic transaminase, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombocytopen... |
OMIM:617591 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Reduced haptoglobin level, Jaundice, Macrocytic anemia, Hemosiderinuria, Anemia of inadequate pro... |
OMIM:105600 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Anemia, Hyperuricemia, Renal salt wasting, Pancytopenia, Increased blood urea nitroge... |
OMIM:613845 |
| Gaucher Disease, Type I |
|
Anemia, Hypersplenism, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:230800 |
| Dohle Bodies And Leukemia |
|
Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia |
OMIM:223350 |
| Marburg Hemorrhagic Fever |
|
Leukopenia, Renal insufficiency, Hypokalemia, Pancreatitis, Jaundice, Elevated hepatic transamina... |
ORPHA:99826 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hepatic fibrosis, Cirrhosis, Renal tubular acidosis, Hepatocellular adenoma... |
ORPHA:370 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Intraalveolar phospholipid accumulation, Splenomegaly, Leukocytosis |
OMIM:618042 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly |
OMIM:617068 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Jaundice, Autoimmune hemolytic anemia, Abnormal urinary color, Spleno... |
ORPHA:90033 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Lymphopenia, Eosinophilia, Neutropenia |
OMIM:615816 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
| Pearson Marrow-Pancreas Syndrome |
|
Anemia, Hepatic failure, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Reticulocytopenia, Hy... |
OMIM:557000 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Anemia, Hypertriglyceridemia, Hepatic fibrosis, Renal tubular acidosis, Cirrhosis, Hepatocellular... |
ORPHA:264580 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Hypospadias, Microcytic anemia |
ORPHA:98791 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... |
ORPHA:98848 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
| Griscelli Syndrome |
|
Leukopenia, Abnormal circulating lipid concentration, Hepatitis, Jaundice, Abnormality of neutrop... |
ORPHA:381 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... |
OMIM:602347 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Hypospadias, Abnormal reticulocyte morphology |
ORPHA:2522 |
| Oslam Syndrome |
|
Anemia |
OMIM:165660 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Vesicoureteral reflux, Anemia, Hepatic fibrosis, Elevated hepatic transaminase, El... |
OMIM:615895 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
| Transaldolase Deficiency |
|
Anemia, Hepatic fibrosis, Cirrhosis, Pancytopenia, Hepatosplenomegaly, Micronodular cirrhosis, He... |
OMIM:606003 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Hypocalcemia, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:259700 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Increased total iron binding capacity, Hyperglycinemia, Abnormality of the liver, J... |
ORPHA:309854 |
| Diamond-Blackfan Anemia 7 |
|
Vesicoureteral reflux, Horseshoe kidney, Macrocytic anemia, Increased mean corpuscular volume, Ne... |
OMIM:612562 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Prolonged neonatal jaundice, Elevated amniotic fluid alpha-fetoprotein |
ORPHA:423479 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
| Primary Hyperoxaluria Type 1 |
|
Anemia, Calcinosis, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, Hematuria, Abnorma... |
ORPHA:93598 |
| Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:98293 |
| Glucagonoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Abnormal abdomen morph... |
ORPHA:97280 |
| Prolidase Deficiency |
|
Anemia, Prolonged neonatal jaundice, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:170100 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:619183 |
| Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... |
ORPHA:443811 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentra... |
OMIM:617388 |
| Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascites, Aplas... |
OMIM:615122 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
| Essential Thrombocythemia |
|
Abnormal platelet morphology, Splenomegaly, Acute leukemia |
ORPHA:3318 |
| Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Hypoamylasemia, Impaired neutrophil chemotaxis, Elevated hepatic transami... |
ORPHA:811 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Medullary nephrocalcinosis, Acanthocytosis, Poikilocytosis |
OMIM:618947 |
| Nephronophthisis 19 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease, Malformation of the hepatic ductal plate, Bile ... |
OMIM:616217 |
| Catastrophic Antiphospholipid Syndrome |
|
Coombs-positive hemolytic anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:464343 |
| Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Hepatitis, Neutrophilia, Elevated hepatic transaminase,... |
ORPHA:829 |
| Muckle-Wells Syndrome |
|
Anemia, Nephrotic syndrome, Nephropathy, Hepatomegaly, Splenomegaly |
ORPHA:575 |
| Classic Mycosis Fungoides |
|
Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology, Hepatomegaly |
ORPHA:2584 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Autoimmune hemolytic anemia, Abnormal urinary color |
ORPHA:90036 |
| Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Cirrhosis, Hypersplenism, Hematuria, Pancytopenia, Biliary tract obstruction,... |
ORPHA:77259 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Vesicoureteral reflux, Cirrhosis, Microvesicular hepatic steatosis, Hepatomegaly, Elevated hepati... |
OMIM:300868 |
| Mevalonic Aciduria |
|
Anemia, Elevated urine mevalonic acid level, Elevated hepatic transaminase, Hepatosplenomegaly, E... |
OMIM:610377 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Chronic hemolytic anemia, Right ventricular hypertrophy |
ORPHA:275766 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Anemia, Cirrhosis, Hepatic failure, Enlarged kidney, Ascites, Hepatocellular ... |
OMIM:276700 |
| Immunodeficiency 47 |
|
Leukopenia, Hepatic fibrosis, Cirrhosis, Elevated circulating alanine aminotransferase concentrat... |
OMIM:300972 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c |
OMIM:609812 |
| Fish-Eye Disease |
|
Lymphadenopathy, Decreased HDL cholesterol concentration, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Anemia, Hypertriglyceridemia, Hepatic fibrosis, Renal tubular acidosis, Cirrhosis, Hepatocellular... |
ORPHA:79240 |
| Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Elevated transferr... |
ORPHA:79230 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Hemochromatosis, Type 1 |
|
Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Increased circu... |
OMIM:235200 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Anemia, Elevated circulating C-reactive protein concentration |
OMIM:608068 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Elevated hepatic transaminase, Pancytopenia, Persistence of hemog... |
OMIM:260400 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproli... |
ORPHA:3226 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F |
OMIM:619769 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... |
OMIM:601847 |
| Follicular Lymphoma |
|
Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:545 |
| Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera... |
OMIM:613027 |
| Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly |
ORPHA:77260 |
| Fetal Gaucher Disease |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Abnormality of the spleen, Splenomegaly |
ORPHA:85212 |
| Multiple Myeloma |
|
Anemia, Nephrotic syndrome, Acute kidney injury, Nephropathy, Lymphadenopathy, Hypercalcemia, Ele... |
ORPHA:29073 |
| Dysplastic Cortical Hyperostosis |
|
Splenomegaly, Hepatomegaly |
ORPHA:2204 |
| Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... |
OMIM:607594 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Nephrotic range proteinuria, Anuria, Hemolytic anemia, Acute kidney injury, Decreased urine outpu... |
ORPHA:544482 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Intrahepatic choles... |
OMIM:235555 |
| Felty Syndrome |
|
Anemia, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia, Neutropenia... |
ORPHA:47612 |
| Evans Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Autoimmune hemolytic anemia, Auto... |
ORPHA:1959 |
| Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... |
ORPHA:247598 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... |
OMIM:607765 |
| Cronkhite-Canada Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:2930 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomeg... |
OMIM:616100 |
| Castleman Disease |
|
Anemia, Renal insufficiency, Jaundice, Ureteral obstruction, Hematuria, Generalized lymphadenopat... |
ORPHA:160 |
| Wiskott-Aldrich Syndrome |
|
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lymphopenia, ... |
ORPHA:906 |
| Letterer-Siwe Disease |
|
Anemia, Jaundice, Hepatosplenomegaly, Thrombocytopenia, Neutropenia |
OMIM:246400 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c |
OMIM:619278 |
| Diamond-Blackfan Anemia 10 |
|
Anemia, Steroid-responsive anemia, Reticulocytopenia, Ectopic kidney, Macrocytic anemia |
OMIM:613309 |
| Majeed Syndrome |
|
Hypochromic microcytic anemia, Leukocytosis, Hepatomegaly, Proteinuria, Splenomegaly, Congenital ... |
ORPHA:77297 |
| Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... |
OMIM:207750 |
| Neuraminidase Deficiency |
|
Ascites, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptid... |
OMIM:256550 |
| Tangier Disease |
|
Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased ci... |
OMIM:205400 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... |
ORPHA:760 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Pfapa Syndrome |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:42642 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatiti... |
OMIM:613812 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Elevated hepatic transaminase, Abnormal B cell... |
ORPHA:331206 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
| Infantile Liver Failure Syndrome 3 |
|
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammon... |
OMIM:618641 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:85414 |
| Immunodeficiency 81 |
|
Impaired neutrophil chemotaxis, Abnormally low T cell receptor excision circle level, Decreased p... |
OMIM:619374 |
| Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Abnormal lymph node morphology, Lymphadenitis, Nephrotic syndrome, Lymphocytosis, Decreased propo... |
ORPHA:911 |
| Caroli Disease |
|
Cholelithiasis, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Elevated cir... |
ORPHA:53035 |
| Myopathy With Extrapyramidal Signs |
|
Hyperlysinemia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration... |
OMIM:615673 |
| Nephronophthisis 4 |
|
Anemia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis,... |
OMIM:606966 |
| Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronop... |
OMIM:266900 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Reticulocytopenia, Pancytopenia, Ectopic kidney, Horseshoe kidney, Thrombocytopenia, Neut... |
OMIM:600901 |
| Caspase 8 Deficiency |
|
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
| Tarp Syndrome |
|
Hydronephrosis, Horseshoe kidney, Extramedullary hematopoiesis |
ORPHA:2886 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... |
OMIM:211600 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Nephrotic syndrome, Enlarged kidney, Nephritis, Macrovesicular hepatic steato... |
OMIM:617303 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Abetalipoproteinemia, Acanthocytosis |
ORPHA:157850 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Enlarged kidney, Abnormal spleen morphology, Abnormal lymphatic vessel ... |
ORPHA:464329 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:618620 |
| Lysinuric Protein Intolerance |
|
Leukopenia, Anemia, Aminoaciduria, Intraalveolar phospholipid accumulation, Stage 5 chronic kidne... |
OMIM:222700 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Proximal tubulopathy, Cirrhosis, Elevated hepatic transaminase, Unilateral renal agenesis, Pancyt... |
OMIM:614576 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Hepatosplenome... |
OMIM:615952 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:609981 |
| Interstitial Lung And Liver Disease |
|
Aminoaciduria, Anemia, Hepatic fibrosis, Cirrhosis, Intraalveolar phospholipid accumulation, Elev... |
OMIM:615486 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules |
OMIM:139090 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Reticulocytopenia, Pancytopenia, Ectopic kidney, Horseshoe kidney, Thrombocytopenia, Neut... |
OMIM:227650 |
| Sclerosing Cholangitis, Neonatal |
|
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jau... |
OMIM:617394 |
| Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Jaundice, Giant neutrophil granules, Lymphadenopathy, Hemophagocytosis, Hepat... |
OMIM:214500 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly |
OMIM:613489 |
| Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
| Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly |
OMIM:240500 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Splenomegaly, Hepatomegaly, Hypocalcemic seizures |
OMIM:612301 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
| Nephronophthisis 1 |
|
Hyposthenuria, Anemia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:256100 |
| Hepatocellular Carcinoma |
|
Hemobilia, Anemia, Abnormality of the liver, Liver abscess, Hepatic necrosis, Hypokalemia, Hyperb... |
ORPHA:88673 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
T lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Sclerosing cholangitis, ... |
ORPHA:572 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly |
ORPHA:59303 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Cirrhosis, Abnormality of iron homeostasis, Elevated transferrin saturation, Hepatocellular carci... |
ORPHA:465508 |
| B4Galt1-Cdg |
|
Decreased LDL cholesterol concentration, Elevated hepatic transaminase, Elevated circulating crea... |
ORPHA:79332 |
| Farber Lipogranulomatosis |
|
Splenomegaly, Hepatomegaly, Lipogranulomatosis |
OMIM:228000 |
| Sepsis In Premature Infants |
|
Anemia, Decreased liver function, Jaundice, Oliguria, Leukocytosis, Reversible renal failure, Ele... |
ORPHA:90051 |
| Hurler-Scheie Syndrome |
|
Abnormality of the tonsils, Splenomegaly, Hepatomegaly |
ORPHA:93476 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Nephrocalcinosis, Elliptocytosis, Anemia, Hypercalciuria |
OMIM:300990 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Pollakisuria, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia |
ORPHA:647 |
| Thymoma |
|
Leukemia, Glomerulonephritis, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell apl... |
ORPHA:99867 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Bone marrow hypocellularit... |
ORPHA:508542 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Anemia, Cirrhosis, Microvesicular hepatic steatosis, Polysplenia, Macronodular cirrhosis, Hepatic... |
OMIM:619418 |
| Lead Poisoning |
|
Tubulointerstitial nephritis, Abnormal T cell morphology, Anemia, Imbalanced hemoglobin synthesis... |
ORPHA:330015 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... |
ORPHA:86843 |
| Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count |
OMIM:618394 |
| Tangier Disease |
|
Chronic noninfectious lymphadenopathy, Anemia, Left ventricular hypertrophy, Hepatosplenomegaly, ... |
ORPHA:31150 |
| Sarcoidosis |
|
Tubulointerstitial nephritis, Leukopenia, Anemia, Abnormal lymph node morphology, Renal insuffici... |
ORPHA:797 |
| Fanconi Anemia, Complementation Group C |
|
Anemia, Reticulocytopenia, Pancytopenia, Ectopic kidney, Horseshoe kidney, Bone marrow hypocellul... |
OMIM:227645 |
| Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Anemia, Hypoalbuminemia |
OMIM:174900 |
| Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Splenomegaly, Increased serum iron, Abnormality of iron homeostasis, Hepatic ... |
OMIM:222470 |
| Duodenal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Hepatic failure, Increased hematocrit, Elevated hepatic transaminase, I... |
ORPHA:100076 |
| Immunodeficiency, Common Variable, 7 |
|
Splenomegaly |
OMIM:614699 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial nephritis, Anemia, Hyperuricemia, Stage 5 chronic kidney disease, Renal cortic... |
OMIM:174000 |
| Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elev... |
ORPHA:567983 |
| Whipple Disease |
|
Anemia, Mediastinal lymphadenopathy, Hepatomegaly, Hyponatremia, Splenomegaly |
ORPHA:3452 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... |
OMIM:602450 |
| Free Sialic Acid Storage Disease |
|
Nephrotic syndrome, Proteinuria, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:834 |
| Sézary Syndrome |
|
Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology, Hepatomegaly |
ORPHA:3162 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... |
OMIM:616005 |
| Gaucher Disease, Type Ii |
|
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly |
OMIM:230900 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Anemia, Elevated hepatic transaminase, Lymphopenia, Pancytopenia, Hepatosplenomegaly,... |
OMIM:615688 |
| Adams-Oliver Syndrome 6 |
|
Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension |
OMIM:616589 |
| Fumarase Deficiency |
|
Aminoaciduria, Hepatic failure, Hyperbilirubinemia, Polycythemia, Cholestasis |
OMIM:606812 |
| Classic Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity, Hepatomegaly |
ORPHA:391 |
| Hyperlipoproteinemia, Type I |
|
Jaundice, Pancreatitis, Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemi... |
OMIM:238600 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... |
OMIM:102700 |
| Legionnaires Disease |
|
Hepatitis, Jaundice, Pancreatitis, Hematuria, Lymphopenia, Lymphadenopathy, Bone marrow hypocellu... |
ORPHA:549 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Tubulointerstitial nephritis, Decreased prealbumin level, Nephrotic syndrome, Hepatitis, Neutrope... |
ORPHA:37042 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia |
OMIM:610163 |
| Pseudo-Torch Syndrome 1 |
|
Renal insufficiency, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Decreased liver funct... |
OMIM:251290 |
| Chédiak-Higashi Syndrome |
|
Anemia, Hypertriglyceridemia, Neutropenia, Decreased liver function, Jaundice, Elevated hepatic t... |
ORPHA:167 |
| Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Decreased LDL cholesterol concentration, Pancreatitis, Hyperlipoproteinem... |
OMIM:615947 |
| Autoimmune Hepatitis |
|
Increased total bilirubin, Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepati... |
ORPHA:2137 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Hepatomegaly, Nephronophthisis, Splenomegaly, Chr... |
OMIM:615630 |
| X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... |
ORPHA:2442 |
| Syndromic Diarrhea |
|
Splenomegaly, Hepatic fibrosis, Hypoplasia of the thymus, Abnormality of iron homeostasis, Abnorm... |
ORPHA:84064 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Splenomegaly, Hepatomegaly |
OMIM:612852 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Erythroid hypoplasia, Hepatosplenomegaly, Lymphopen... |
OMIM:612541 |
| Congenital Pulmonary Lymphangiectasia |
|
Ascites, Splenomegaly, Hepatomegaly |
ORPHA:2414 |
| Cryoglobulinemic Vasculitis |
|
Abnormality of the liver, Hematuria, Viral hepatitis, Proteinuria, Hepatomegaly, Mediastinal lymp... |
ORPHA:91138 |
| Budd-Chiari Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Portal hypertens... |
ORPHA:131 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemia, Reticulocytopenia, Annular pancreas, Pancytopenia, Ectopic kidney, Pelvic kidney, Horsesh... |
OMIM:227646 |
| Glycogen Storage Disease Ib |
|
Hyperuricemia, Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Elevated hepatic transami... |
OMIM:232220 |
| Chronic Granulomatous Disease |
|
Liver abscess, Abnormality of neutrophils, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:379 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Generalized lymphadenopathy, Pancytopenia, Autoimmune thr... |
OMIM:614700 |
| Mastocytosis |
|
Mastocytosis, Hypercalcemia, Hepatomegaly, Acute leukemia, Splenomegaly, Chronic leukemia |
ORPHA:98292 |
| Q Fever |
|
Anemia, Abnormality of the liver, Hepatitis, Hematuria, Elevated hepatic transaminase, Hepatosple... |
ORPHA:781 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin, Hypoplasia of penis, Hydronephrosis |
ORPHA:847 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Hepatic cysts, Cirrhosis, Stage ... |
OMIM:208540 |
| Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Leukopenia, Anemia, Lymphocytosis, Elevated hepatic transaminase,... |
ORPHA:50918 |
| Coach Syndrome 1 |
|
Hepatic fibrosis, Multiple small medullary renal cysts, Cirrhosis, Stage 5 chronic kidney disease... |
OMIM:216360 |
| Gaucher Disease, Perinatal Lethal |
|
Anemia, Hepatic failure, Ascites, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Thrombocytopeni... |
OMIM:608013 |
| Niemann-Pick Disease, Type C1 |
|
Sea-blue histiocytosis, Fetal ascites, Bone-marrow foam cells, Hepatomegaly, Fatal liver failure ... |
OMIM:257220 |
| Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Waldenström Macroglobulinemia |
|
Leukemia, Normocytic anemia, Abnormality of neutrophils, Lymphadenopathy, Hepatomegaly, Renal ins... |
ORPHA:33226 |
| Gaucher Disease Type 3 |
|
Anemia, Hematuria, Pancytopenia, Proteinuria, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:77261 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis |
ORPHA:71493 |
| Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine |
OMIM:252920 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation, Splenomegaly, Hepatomegaly |
OMIM:618541 |
| Primary Lipodystrophy |
|
Cirrhosis, Splenomegaly, Hepatic steatosis, Hyperlipidemia, Pancreatitis |
ORPHA:90970 |
| Isolated Biliary Atresia |
|
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Dark yellow urine, Jaundice, Elevated hepati... |
ORPHA:30391 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Splenomegaly, Hepatic failure, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pancreatic l... |
OMIM:235255 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Interface hepatitis, Lymphopenia, Impaired lymphocyte transformation wi... |
OMIM:243150 |
| Familial Mediterranean Fever |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Neutrophilia, Elevated circulating C-reactive... |
OMIM:249100 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Hyperuricemia, Pancreatitis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Sp... |
ORPHA:79083 |
| Choreoacanthocytosis |
|
Elevated circulating alanine aminotransferase concentration, Abnormal erythrocyte enzyme level, E... |
ORPHA:2388 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Hepatic cysts, Periport... |
OMIM:263200 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Urinary incontinence, Acanthocytosis |
OMIM:234200 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly |
ORPHA:2348 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatosplenomegaly, Hepatoblastoma, Reduced renal corticomedullary differenti... |
ORPHA:731 |
| Oculoskeletodental Syndrome |
|
Mucopolysacchariduria, Hypercalcemia, Hepatomegaly, Hypocalcemia, Splenomegaly, Hypercalciuria |
OMIM:618440 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Decreased serum zinc, Hepatomegaly |
OMIM:201100 |
| Glycogen Storage Disease Ii |
|
Urinary incontinence, Increased circulating NT-proBNP concentration, Elevated circulating creatin... |
OMIM:232300 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Pancreatitis, Elevated circulating creatine kinase concentration, Hepatomegaly, Hyperlipidemia, I... |
ORPHA:565612 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Elevated circulating creatine kinase concentration |
OMIM:175780 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemoglobin, Hypospadias, M... |
OMIM:301040 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatic failure, Pulmonary lymphangiectasia, Hepatosplenomegaly, Pancreatic lymphangiectasis, Hyp... |
ORPHA:1655 |
| Poikiloderma With Neutropenia |
|
Leukopenia, Neutropenia, Splenomegaly, Elevated circulating creatine kinase concentration |
OMIM:604173 |
| Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine |
OMIM:252900 |
| Eisenmenger Syndrome |
|
Hyperuricemia, Abnormality of the liver, Ascites, Hypochromic microcytic anemia, Abnormal B-type ... |
ORPHA:97214 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Hepatitis, Polycystic kidney dysplasia... |
OMIM:610199 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Anemia, Hypophosphatemia, Lymphadenopathy, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:667 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Abs... |
OMIM:608233 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Intrahepatic biliary atresia, Hepatic fibrosis, Hepatic failure, Sclerosing cholangitis, Jaundice... |
OMIM:607626 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling |
OMIM:605309 |
| Niemann-Pick Disease, Type C2 |
|
Sea-blue histiocytosis, Jaundice, Fetal ascites, Bone-marrow foam cells, Hepatomegaly, Prolonged ... |
OMIM:607625 |
| Pachydermoperiostosis |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:2796 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Abnormal circulating lipid concentration, Cirrhosis, Hepatic failure, Hyperspleni... |
ORPHA:77293 |
| Gaucher Disease, Type Iiic |
|
Cardiomegaly, Splenomegaly, Pancytopenia, Hepatomegaly |
OMIM:231005 |
| Primary Sclerosing Cholangitis |
|
Hepatocellular carcinoma, Cholangiocarcinoma, Elevated hepatic transaminase, Hepatosplenomegaly, ... |
ORPHA:171 |
| Hyper-Igd Syndrome |
|
Lymphadenitis, Elevated urine mevalonic acid level, Renal angiomyolipoma, Neutrophilia, Hepatospl... |
OMIM:260920 |
| Scheie Syndrome |
|
Mucopolysacchariduria, Splenomegaly, Hepatomegaly |
ORPHA:93474 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute pancreatitis, Elevated hemoglo... |
OMIM:269700 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... |
OMIM:615607 |
| Sarcoidosis, Susceptibility To, 2 |
|
Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:612387 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233710 |
| Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Neoplasm of the pancreas, Polycythemia, Multiple renal cysts, Hepatic hemangioma |
OMIM:193300 |
| Kabuki Syndrome 1 |
|
Crossed fused renal ectopia, Hemolytic anemia, Autoimmune thrombocytopenia, Ureteropelvic junctio... |
OMIM:147920 |
| Diamond-Blackfan Anemia 1 |
|
Reticulocytopenia, Thrombocytosis, Renal hypoplasia, Thrombocytopenia, Neutropenia, Elevated red ... |
OMIM:105650 |
| Immunodeficiency 31C |
|
Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... |
OMIM:614162 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Hepatitis, Decre... |
OMIM:619381 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233690 |
| Reynolds Syndrome |
|
Biliary cirrhosis, Calcinosis, Hyperbilirubinemia, Jaundice, Elevated hepatic transaminase, Lymph... |
OMIM:613471 |
| Brucellosis |
|
Leukopenia, Anemia, Abnormality of the liver, Liver abscess, Hypersplenism, Glomerulonephritis, L... |
ORPHA:1304 |
| Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly |
ORPHA:33577 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Calcinosis, Hypokalemia, Renal artery stenosis, Hyponatremia, Renal hypoplasia, Ne... |
OMIM:617913 |
| Hermansky-Pudlak Syndrome 10 |
|
Neutropenia, Splenomegaly, Hepatomegaly |
OMIM:617050 |
| Adams-Oliver Syndrome 5 |
|
Hypersplenism, Right ventricular hypertrophy, Splenomegaly, Portal vein thrombosis |
OMIM:616028 |
| Hardikar Syndrome |
|
Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Hepatomegaly, Decreased l... |
OMIM:301068 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hemolytic anemia, Urinary urgency, Unilateral renal agenesis, Hepatosplenomegaly, Hepatic steatos... |
OMIM:619503 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Anemia, Elevated circulating alanine aminotransferase concentration, Prolonged neonatal jaundice,... |
OMIM:619525 |
| Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Neutrophilia, Pancreatitis, Generalized lymphadenopathy, Portal fibrosis, Hepatosplenomeg... |
ORPHA:3260 |
| Biotinidase Deficiency |
|
Organic aciduria, Hyperammonemia, Splenomegaly, Hepatomegaly |
OMIM:253260 |
| Dyskeratosis Congenita |
|
Anemia, Cirrhosis, Hepatic failure, Displacement of the urethral meatus, Neoplasm of the pancreas... |
ORPHA:1775 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Hepatitis, Neutropenia in presence of anti-neutropil antibo... |
ORPHA:391487 |
| Polycythemia Vera |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Acute leukemia, Splenomegaly |
ORPHA:729 |
| Gaucher Disease |
|
Anemia, Cirrhosis, Hepatitis, Hematuria, Pancytopenia, Elevated circulating C-reactive protein co... |
ORPHA:355 |
| Familial Tumoral Calcinosis |
|
Nephrocalcinosis, Splenomegaly, Hepatomegaly |
ORPHA:53715 |
| Granulomatous Disease, Chronic, X-Linked |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:306400 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Peritonitis... |
ORPHA:32960 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Autoimmune hemolytic anemia, Abnormality... |
ORPHA:436252 |
| Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Aminoaciduria, Hyperphosphaturia, Decreased plasma carnitine, Hypoph... |
OMIM:219800 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Anemia, Hepatic fibrosis, Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Cholelithiasis, Abn... |
ORPHA:2072 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Renal hypoplasia, Splenomegaly |
OMIM:612918 |
| Camurati-Engelmann Disease |
|
Leukopenia, Anemia, Urinary retention, Hepatomegaly, Splenomegaly |
ORPHA:1328 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Lymphadenopathy, Decreased HDL cholesterol concentration, Elevated... |
OMIM:256040 |
| Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... |
OMIM:301000 |
| Beckwith-Wiedemann Syndrome |
|
Vesicoureteral reflux, Congenital megaureter, Enlarged kidney, Polycythemia, Elevated circulating... |
ORPHA:116 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Hy... |
OMIM:608594 |
| Blau Syndrome |
|
Anemia, Abnormality of the liver, Stage 5 chronic kidney disease, Nephropathy, Lymphadenopathy, S... |
ORPHA:90340 |
| Crimean-Congo Hemorrhagic Fever |
|
Leukopenia, Hepatic failure, Hemoperitoneum, Jaundice, Neutrophilia, Hematuria, Pancytopenia, Ele... |
ORPHA:99827 |
| Digeorge Syndrome |
|
Anemia, Hypoplasia of the thymus, Hypocalcemia, Unilateral renal agenesis, Hepatic steatosis, Abn... |
OMIM:188400 |
| Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Pancytopenia, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegal... |
OMIM:181000 |
