Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly, Pallor |
ORPHA:46532 |
Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Growth delay, Erythroid hyperplasia, Short stature, Anemia, Splenomegaly, Jaundice,... |
OMIM:615631 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Growth delay, Anemia, Splenomegaly, Poikilocytosis, Decreased mean cor... |
OMIM:615234 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Spherocytosis, Type 5 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612690 |
Hereditary Spherocytosis |
|
Hepatomegaly, Growth delay, Anemia, Cholelithiasis, Gout, Splenomegaly, Pallor, Extramedullary he... |
ORPHA:822 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Short stature, Anemia, Splenomegaly, Reticulocytosis, Anemia... |
OMIM:613673 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Short stature, Splenomegaly |
ORPHA:66518 |
Spherocytosis, Type 4 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Mild postnatal growth retardation, Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomega... |
OMIM:224120 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:616649 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:182900 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... |
OMIM:109270 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... |
ORPHA:766 |
Heinz Body Anemias |
|
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia |
OMIM:140700 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Growth delay, Petechiae, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, R... |
OMIM:611490 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
Glutamate-Cysteine Ligase Deficiency |
|
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Jaundice |
ORPHA:33574 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Intrauterine growth retardation, Anemia |
ORPHA:2802 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Short stature, Anemia, Abnormal hemoglobin, Decreased skull ossification, Thrombocytopenia |
ORPHA:3319 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Short stature, Rickets, Hepatosplenomegaly, Reticulocytosis, Decreased mean cor... |
OMIM:611590 |
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities |
|
Hepatosplenomegaly, Hemolytic anemia, Ascites |
OMIM:600461 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
Hemoglobin E Disease |
|
Hypochromia, Intrauterine growth retardation, Hypochromic microcytic anemia, Increased red blood ... |
ORPHA:2133 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:231900 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Schistocytosis, Folate-respons... |
OMIM:601775 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Diamond-Blackfan Anemia 13 |
|
Elevated red cell adenosine deaminase level, Normocytic anemia |
OMIM:615909 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Hypochromia, Intrauterine growth retardation, Stomatocytosis... |
ORPHA:71275 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Petechiae, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia |
OMIM:314050 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti... |
OMIM:300908 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:230450 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Microangiopathic hemolytic anemia, Hyperlipidemia, Purpura, Reticulocytosis, Thro... |
OMIM:235400 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia, Pallor |
ORPHA:517 |
Hereditary Elliptocytosis |
|
Congenital hemolytic anemia, Prolonged neonatal jaundice, Stomatocytosis, Cholelithiasis, Splenom... |
ORPHA:288 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
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 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Arthritis, Splenomegaly, Abnormality of the liver, Hyp... |
OMIM:210250 |
X-Linked Sideroblastic Anemia |
|
Pallor, Anemia, Splenomegaly |
ORPHA:75563 |
Beta-Thalassemia |
|
Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Reduced bone ... |
ORPHA:848 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Primary Myelofibrosis |
|
Ecchymosis, Leukocytosis, Thrombocytosis, Portal hypertension, Hepatomegaly, Petechiae, Lymphaden... |
ORPHA:824 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Anisopoikilocytosis, Anemia, Schistocytosis |
OMIM:616457 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:185000 |
Porphyria, Acute Hepatic |
|
Hemolytic anemia |
OMIM:612740 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... |
OMIM:194380 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice |
OMIM:312500 |
Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Elliptocytosis, Pallor, Jaundice |
OMIM:611804 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia |
OMIM:615010 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Harderoporphyria |
|
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:618892 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Growth delay, Sideroblastic ane... |
OMIM:616084 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Prolonged neonatal jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, ... |
OMIM:274150 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:235700 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, S... |
OMIM:617514 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anisopoikilocytosis, Myelofibrosis, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:617441 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Pallor |
ORPHA:56425 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecys... |
OMIM:266200 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Normochromic anemia, Hemolytic anemia, Hypertriglyceridemia |
OMIM:245900 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Glycogen Storage Disease Vii |
|
Gout, Cholelithiasis, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, ... |
OMIM:232800 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia |
OMIM:618660 |
Glut1 Deficiency Syndrome 2 |
|
Reticulocytosis |
OMIM:612126 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia, Neonatal death |
OMIM:273680 |
Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
Congenital Atransferrinemia |
|
Anemia, Arthritis, Abnormality of the pancreas |
ORPHA:1195 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly, Pallor |
ORPHA:163596 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Growth delay, Short stature, Splenomegaly, Spherocytosis |
ORPHA:251066 |
Autoimmune Hemolytic Anemia |
|
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:1802 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Petechiae, Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate prod... |
OMIM:300367 |
Phosphoglycerate Kinase 1 Deficiency |
|
Reticulocytosis, Hemolytic anemia |
OMIM:300653 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Babesiosis |
|
Hepatomegaly, Leukopenia, Splenomegaly, Limitation of joint mobility, Thrombocytopenia, Hemolytic... |
ORPHA:108 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:54057 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Growth delay, Short stature, Splenomegaly, Hemolytic anemia, Jaundice |
OMIM:608885 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Short stature, Anemia, Anisocytosis, Poikilocytosis, Abnormal ... |
ORPHA:98870 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Erythroid hyperplasia, Pappenheimer bodies, Sideroblastic anemia, Hypochromic anemia, Microcytic ... |
OMIM:600462 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:507 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hemolytic anemia, Erythema, Hypertriglyceridemia |
OMIM:177000 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Elliptocytosis 2 |
|
Reticulocytosis, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Growth delay, Elevated hepatic iron concentration, Anemia, Hepatosplenomegal... |
ORPHA:300298 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypocholesterolemia, Anemia, Splenomegaly, Osteopenia, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Ecchymosis, Increased mean platelet volume, Petechiae, Stomatocytosis, Splenomegaly, Hemolytic an... |
OMIM:153670 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Pallor, Jaundice |
OMIM:613839 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis |
OMIM:141700 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Osteoporosis, Anemia, Splenomegaly, Osteolysis |
ORPHA:100024 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Short stature, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyt... |
OMIM:611881 |
Beta-Thalassemia Intermedia |
|
Splenomegaly, Reduced bone mineral density, Hepatosplenomegaly, Pallor, Skin ulcer, Jaundice, Ane... |
ORPHA:231222 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Lathosterolosis |
|
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Growth delay, Acanthocytosis... |
OMIM:607330 |
Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia |
OMIM:153550 |
Heme Oxygenase 1 Deficiency |
|
Thrombocytosis, Hepatomegaly, Growth delay, Asplenia, Coombs-positive hemolytic anemia, Lymphaden... |
OMIM:614034 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy, Erythema, Anemia, Osteolysis |
ORPHA:158014 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:618495 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Peritonitis, Pancreatitis, Retic... |
ORPHA:90038 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Reticulocytosis, Hemolytic anemia, Decreased hemoglobin concentration |
ORPHA:713 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Hypertriglyceridemia, Thrombocy... |
OMIM:603552 |
Hemolytic Anemia, Congenital, X-Linked |
|
Hemolytic anemia, Jaundice |
OMIM:301015 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Diamond-Blackfan Anemia 9 |
|
Anemia, Growth delay |
OMIM:613308 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Thrombocytopenia, Megaloblastic anemia, Short stature |
ORPHA:49827 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level |
OMIM:102730 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Elliptocytosis |
OMIM:616959 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Short stature, Anemia, Purpura, Asplenia |
ORPHA:3204 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Anisocytosis, Poikilocytosis, Chronic hemoly... |
OMIM:618278 |
Elliptocytosis 3 |
|
Pyropoikilocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume, Intermittent jau... |
OMIM:617948 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Pigment gallstones, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... |
OMIM:613470 |
Beta-Thalassemia Major |
|
Anisopoikilocytosis, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Pallor, Skin ulcer, Decreas... |
ORPHA:231214 |
Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Growth delay, Ascites, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:100025 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Neutropenia, Growth delay, Short stature, Erythroid hypoplasia, Reticulocytopenia |
OMIM:612527 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Systemic Lupus Erythematosus |
|
Thrombocytopenia, Hemolytic anemia, Arthritis, Leukopenia |
OMIM:152700 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
Hypobetalipoproteinemia, Familial, 1 |
|
Acanthocytosis |
OMIM:615558 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Petechiae, Osteopetrosis, Anemia, Abnormality of the lymph nodes, Spl... |
OMIM:612840 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Intrauterine growth retardation, Anemia, Ascites |
ORPHA:295 |
Fanconi Anemia, Complementation Group T |
|
Short stature, Anemia, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia |
OMIM:616435 |
Acute Erythroid Leukemia |
|
Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia, Pancytopenia |
ORPHA:318 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Anemia, Osteopenia, Splenomegaly, Recurrent fractures |
OMIM:618107 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Anemia, Autoimmune Hemolytic |
|
Autoimmune hemolytic anemia |
OMIM:205700 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Thrombocytopenia... |
OMIM:613101 |
Fanconi Anemia, Complementation Group G |
|
Neutropenia, Growth delay, Leukemia, Anemia, Thrombocytopenia |
OMIM:614082 |
Majeed Syndrome |
|
Growth delay, Erythroid hyperplasia, Osteomyelitis, Hepatosplenomegaly, Microcytic anemia, Flexio... |
OMIM:609628 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Rh-Null, Regulator Type |
|
Stomatocytosis, Hemolytic anemia, Jaundice |
OMIM:268150 |
Mcleod Syndrome |
|
Acanthocytosis, Abnormal erythrocyte morphology, Hepatosplenomegaly |
OMIM:300842 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Acanthocytosis |
OMIM:607236 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Letterer-Siwe Disease |
|
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Pallor, Jaundice |
OMIM:246400 |
Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular carcinoma, Growth delay, Osteopor... |
ORPHA:231226 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Osteopenia, Steatorrhea, Calvarial hyperostosis, Ex... |
OMIM:612714 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Increased bone mine... |
ORPHA:37748 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Growth delay, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormality of the liver, Panc... |
ORPHA:398124 |
Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia |
OMIM:615715 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Short stature, Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Impaired oxidati... |
OMIM:618935 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Short stature, Rhizomelia, Anemia, Bone marrow hypocellularity, Dry skin, Thrombocyto... |
OMIM:618116 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Short stature, Leukopenia, Erythroid hypoplasia, Reticulocytopenia |
OMIM:612528 |
Evans Syndrome |
|
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Autoimmune thrombocyto... |
ORPHA:1959 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C... |
OMIM:615512 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Bone marrow hypocellul... |
ORPHA:101096 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... |
OMIM:616860 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Pure red cell aplasia, Short stature |
OMIM:618165 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Orotic Aciduria |
|
Hypochromia, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unr... |
OMIM:258900 |
Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Anemia |
OMIM:616176 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Hemolytic anemia |
OMIM:615399 |
Sickle Cell Anemia |
|
Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli... |
OMIM:603903 |
Kasabach-Merritt Syndrome |
|
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Petechiae, Abnormal lymphatic vessel ... |
ORPHA:2330 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... |
ORPHA:98826 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis |
OMIM:613313 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Hemolytic anemia |
OMIM:612300 |
Galactosemia I |
|
Cirrhosis, Hepatomegaly, Hemolytic anemia |
OMIM:230400 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis |
OMIM:187800 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... |
ORPHA:3226 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Thrombocytopenia, Hemolytic anemia |
ORPHA:169090 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Splenomegaly, Autoimmune hemolytic anemia, Pallor, Jaundice |
ORPHA:90033 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Normochromic anemia, Elevated red cell adenosine deaminase level, Reticulocyto... |
OMIM:615550 |
Intermediate Osteopetrosis |
|
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... |
ORPHA:210110 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Thrombocytosis, Sterile arthritis, Pyoderma gangrenosum, Arthritis, Knee flexion contracture, Hep... |
OMIM:604416 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Neutropenia, Chronic hepatitis, Sclerosing cholangitis, Hepatitis, Splenomegaly, Ci... |
OMIM:308230 |
Abetalipoproteinemia |
|
Acanthocytosis |
OMIM:200100 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Hepatitis, Anemia, Arthritis, Aut... |
OMIM:304790 |
Chylomicron Retention Disease |
|
Growth delay, Acanthocytosis, Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepat... |
ORPHA:71 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia, Growth delay |
OMIM:250800 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Short stature, Bone-marrow foam cells, Splenomegaly, Hypertriglyceridemia, Sea-blue... |
OMIM:607616 |
Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Salmonella osteomy... |
OMIM:209950 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Growth delay |
ORPHA:57 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Anemia |
OMIM:610090 |
Malaria |
|
Thrombocytopenia, Anemia |
ORPHA:673 |
Lcat Deficiency |
|
Hemolytic anemia, Hypertriglyceridemia |
ORPHA:650 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, B lymphocytopenia, Lymphadenopathy, Decreased proportion of CD4+CD25+ regulator... |
OMIM:606367 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia, Growth delay |
OMIM:243320 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... |
OMIM:619041 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Normo... |
ORPHA:98849 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
Anemia, Sideroblastic, 1 |
|
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... |
OMIM:300751 |
Ollier Disease |
|
Lymphangioma, Anemia, Joint stiffness, Skin ulcer, Osteolysis |
ORPHA:296 |
Transaldolase Deficiency |
|
Anemia, Cirrhosis, Hepatosplenomegaly, Premature skin wrinkling, Thrombocytopenia |
ORPHA:101028 |
Wolman Disease |
|
Hepatomegaly, Growth delay, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly, Steatorrhea |
ORPHA:75233 |
Isolated Agammaglobulinemia |
|
Short stature, Abnormality of the lymphatic system, Abnormal lymphocyte morphology, Anemia, Abnor... |
ORPHA:229717 |
Atransferrinemia |
|
Abnormality of the liver, Hypochromic anemia |
OMIM:209300 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia |
OMIM:603278 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
Mixed Connective Tissue Disease |
|
Hepatomegaly, Mediastinal lymphadenopathy, Leukopenia, Lymphadenopathy, Arthritis, Splenomegaly, ... |
ORPHA:809 |
Immunodeficiency 55 |
|
Intrauterine growth retardation, Neutropenia, Short stature, Lymphadenopathy, Postnatal growth re... |
OMIM:617827 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Amme Complex |
|
Elliptocytosis |
OMIM:300194 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells,... |
ORPHA:331206 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Anemia, Growth delay |
ORPHA:79402 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Intrauterine growth retardation, Ascites, Lymphadenopathy, Anemia, Cardiomegaly, Th... |
ORPHA:858 |
Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in muscle tissue, Ectopic ossification in ligament tissue, Anemia, Synostosi... |
ORPHA:337 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Acute... |
ORPHA:86839 |
Reticular Dysgenesis |
|
Leukopenia, Anemia, Aplasia/Hypoplasia of the thymus, Abnormality of neutrophils, Skin ulcer |
ORPHA:33355 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly, Pallor |
ORPHA:99931 |
Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Myeloproliferative disorder, Purpura, Pallor |
OMIM:254450 |
Porphyria, Congenital Erythropoietic |
|
Short stature, Joint contracture of the hand, Cholelithiasis, Splenomegaly, Pathologic fracture, ... |
OMIM:263700 |
Immunodeficiency 31C |
|
Growth delay, Short stature, Osteopenia, Lymphopenia, Delayed puberty, Autoimmune hemolytic anemia |
OMIM:614162 |
Idiopathic Aplastic Anemia |
|
Ecchymosis, Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Th... |
ORPHA:88 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Eosinophilia, Pallor |
ORPHA:90045 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Short stature, Stomatocytosis, Hepatosplenomegaly, Postnatal growth retardation, Spontaneous hemo... |
ORPHA:168577 |
Potocki-Shaffer Syndrome |
|
Decreased skull ossification, Anemia, Delayed puberty |
ORPHA:52022 |
Aicardi-Goutieres Syndrome 9 |
|
Portal hypertension, Hepatomegaly, Intrauterine growth retardation, Hepatic fibrosis, Ascites, Os... |
OMIM:619487 |
Cinca Syndrome |
|
Leukocytosis, Growth delay, Lymphadenopathy, Anemia, Arthritis, Hepatosplenomegaly, Eosinophilia |
OMIM:607115 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Ascites, Splenomegaly |
ORPHA:1046 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Splenomegaly, Hypertriglyceridemia, Pancytopenia, Hemophagocytosis |
OMIM:618398 |
Paroxysmal Cold Hemoglobinuria |
|
Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia |
ORPHA:90035 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Short stature, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia |
OMIM:614480 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia, Petechiae |
OMIM:616216 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia, Delayed puberty |
ORPHA:2598 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Osteolysis, ... |
ORPHA:100026 |
Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia |
OMIM:615607 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor, Anemia |
OMIM:246450 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:266120 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612926 |
Common Variable Immunodeficiency |
|
Lymphadenopathy, Splenomegaly, Abnormality of the liver, Autoimmune thrombocytopenia, Purpura, Ly... |
ORPHA:1572 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... |
ORPHA:86841 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hem... |
OMIM:608184 |
Osteopetrosis, Autosomal Recessive 2 |
|
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Osteomyelitis, Hepatosplenomeg... |
OMIM:259710 |
Wilson Disease |
|
Hepatomegaly, Hepatocellular carcinoma, Osteoarthritis, Osteoporosis, Cirrhosis, Joint hypermobil... |
OMIM:277900 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis |
OMIM:604777 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Dry skin, Anemia, Growth delay |
OMIM:614450 |
Gaucher Disease, Type Ii |
|
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly |
OMIM:230900 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Intrauterine growth retardation, Short stature, Splenomegaly |
OMIM:618541 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor, Autoimmune hemolytic anemia |
ORPHA:90036 |
Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia |
ORPHA:51208 |
Myasthenia Gravis |
|
Hepatitis, Pure red cell aplasia, Rheumatoid arthritis, Abnormality of the thymus, Hemolytic anemia |
ORPHA:589 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Osteomalacia, Growth delay, Rickets |
ORPHA:89937 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
Hyperlysinemia, Type I |
|
Anemia |
OMIM:238700 |
Fanconi Anemia, Complementation Group V |
|
Neutropenia, Short stature, Anemia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:617243 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Growth delay, Ascites, Short stature, Osteopetrosis, Anemia, Decreased osteoclast c... |
OMIM:259720 |
Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Recurrent fractures, Short stature, Splenomegaly |
ORPHA:417 |
Short Stature With Microcephaly And Distinctive Facies |
|
Anisopoikilocytosis, Anemia, Severe short stature, Osteopenia |
OMIM:615789 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Portal hyp... |
OMIM:616278 |
Tempi Syndrome |
|
Polycythemia, Ascites, Increased hematocrit, Facial erythema |
ORPHA:284227 |
Diamond-Blackfan Anemia 20 |
|
Anemia, Erythroid hypoplasia |
OMIM:618313 |
Hemochromatosis, Type 3 |
|
Neutropenia, Anemia, Arthritis, Cirrhosis, Purpura, Lymphopenia |
OMIM:604250 |
Lesch-Nyhan Syndrome |
|
Anemia, Gout |
ORPHA:510 |
Choreoacanthocytosis |
|
Acanthocytosis |
OMIM:200150 |
Immunodeficiency 76 |
|
B lymphocytopenia, Growth delay, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
Glutamate Formiminotransferase Deficiency |
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Growth delay, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Red Cell Permeability Defect |
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Elliptocytosis |
OMIM:179650 |
Arthrogryposis Multiplex Congenita 5 |
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Normocytic anemia, Intrauterine growth retardation, Growth delay, Acanthocytosis, Arthrogryposis ... |
OMIM:618947 |
Congenital Erythropoietic Porphyria |
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Erythroid hyperplasia, Leukopenia, Osteoporosis, Splenomegaly, Osteopenia, Anisocytosis, Poikiloc... |
ORPHA:79277 |
Ghosal Hematodiaphyseal Dysplasia |
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Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Bone marrow hypocel... |
OMIM:231095 |
Aicardi-Goutieres Syndrome 4 |
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Hepatomegaly, Intrauterine growth retardation, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Th... |
OMIM:610333 |
Vitamin B12-Responsive Methylmalonic Acidemia |
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Hepatomegaly, Anemia |
ORPHA:28 |
Pontocerebellar Hypoplasia, Type 15 |
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Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
Immunodeficiency 46 |
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Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Erythrocytosis, Familial, 2 |
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Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
Asplenia, Isolated Congenital |
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Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
Omenn Syndrome |
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B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... |
OMIM:603554 |
Immunodeficiency 64 |
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Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... |
OMIM:618534 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
Tufted Angioma |
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Thrombocytopenia, Anemia, Purpura, Petechiae |
ORPHA:1063 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
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Limited pronation/supination of forearm, Neutropenia, Anemia, Congenital thrombocytopenia, Thromb... |
OMIM:616738 |
Senior-Loken Syndrome 1 |
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Anemia |
OMIM:266900 |
Tyrosinemia Type 1 |
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Rickets of the lower limbs, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Familial Lambdoid Synostosis |
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Stomatocytosis |
ORPHA:3267 |
Lymphoproliferative Syndrome 1 |
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Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Dec... |
OMIM:613011 |
Autoimmune Lymphoproliferative Syndrome |
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Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Combined Oxidative Phosphorylation Deficiency 14 |
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Thrombocytopenia, Anemia, Growth delay |
OMIM:614946 |
Hemochromatosis, Type 4 |
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Hepatomegaly, Anemia, Cirrhosis, Hepatic steatosis, Osteoarthritis |
OMIM:606069 |
Congenital Rubella Syndrome |
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Hepatomegaly, Intrauterine growth retardation, Short stature, Anemia, Splenomegaly, Thrombocytope... |
ORPHA:290 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Short stature, Acanthocytosis, Hypocholesterolemia, Postnatal growth retardation, Abnormal erythr... |
ORPHA:96180 |
Oslam Syndrome |
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Anemia, Radioulnar synostosis |
OMIM:165660 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
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Anemia, Growth delay, Anemic pallor |
ORPHA:329971 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
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Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia |
ORPHA:79312 |
Amed Syndrome, Digenic |
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Leukopenia, Short stature, Bone marrow hypocellularity, Anemia, Acute myeloid leukemia, Thrombocy... |
OMIM:619151 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia |
OMIM:616871 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
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Intrauterine growth retardation, Neutropenia, Short stature, Anemia, Gout |
OMIM:617056 |
Fetal Gaucher Disease |
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Abnormality of the spleen, Hepatomegaly, Neonatal death, Stillbirth, Arthrogryposis multiplex con... |
ORPHA:85212 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
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Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Gaucher Disease Type 1 |
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Hepatomegaly, Growth delay, Leukopenia, Ascites, Biliary tract obstruction, Anemia, Splenomegaly,... |
ORPHA:77259 |
Diffuse Neonatal Hemangiomatosis |
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Thrombocytopenia, Anemia, Hepatomegaly, Ascites |
ORPHA:2123 |
Autoinflammation With Infantile Enterocolitis |
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Short stature, Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombocyto... |
OMIM:616050 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
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Bone cyst, Anemia |
ORPHA:2668 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Cardiomegaly, Intrauterine growth retardation, Anemia, Decreased circulating cortisol level |
OMIM:618838 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
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Pancytopenia, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
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Mediastinal lymphadenopathy, Anemia, Bone marrow hypocellularity, Osteopenia, Myeloid leukemia, C... |
OMIM:614742 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Splenomegaly, Acute ... |
ORPHA:158057 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
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Pyoderma gangrenosum, Thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:616576 |
Infantile Liver Failure Syndrome 1 |
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Hepatomegaly, Macrocytic anemia, Anemia, Hepatic steatosis, Acute hepatic failure, Elevated hepat... |
OMIM:615438 |
Classic Mycosis Fungoides |
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Hepatomegaly, Lymphadenopathy, Erythema, Abnormal lymphocyte morphology, Splenomegaly, Dry skin, ... |
ORPHA:2584 |
Gaucher Disease, Type Iii |
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Hepatomegaly, Short stature, Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
Diamond-Blackfan Anemia 8 |
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Macrocytic anemia, Neutropenia, Growth delay, Increased mean corpuscular volume, Short stature |
OMIM:612563 |
Cinca Syndrome |
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Leukocytosis, Hepatomegaly, Growth delay, Lymphadenopathy, Anemia, Abnormal granulocyte morpholog... |
ORPHA:1451 |
Progressive Familial Intrahepatic Cholestasis |
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Hepatomegaly, Short stature, Reduced bone mineral density, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Septic arthritis, Lymphopenia, Pancytope... |
OMIM:617780 |
Dysplastic Cortical Hyperostosis |
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Hepatomegaly, Short stature, Abnormal cortical bone morphology, Splenomegaly, Increased bone mine... |
ORPHA:2204 |
Diamond-Blackfan Anemia 6 |
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Macrocytic anemia, Growth delay, Increased mean corpuscular volume, Persistence of hemoglobin F, ... |
OMIM:612561 |
Hypereosinophilic Syndrome, Idiopathic |
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Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Senior-Loken Syndrome 4 |
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Anemia |
OMIM:606996 |
Encephalopathy Due To Prosaposin Deficiency |
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Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Abetalipoproteinemia |
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Hepatomegaly, Hepatic fibrosis, Acanthocytosis, Hypocholesterolemia, Anemia, Cardiomegaly, Osteop... |
ORPHA:14 |
Aicardi-Goutieres Syndrome 7 |
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Thrombocytopenia, Intrauterine growth retardation, Hepatomegaly, Splenomegaly |
OMIM:615846 |
Thrombocythemia 1 |
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Thrombocytosis, Splenomegaly |
OMIM:187950 |
Sea-Blue Histiocytosis |
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Hepatomegaly, Mediastinal lymphadenopathy, Petechiae, Splenomegaly, Thrombocytopenia, Sea-blue hi... |
ORPHA:158029 |
Diamond-Blackfan Anemia 11 |
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Neutropenia, Short stature, Anemia, Bone marrow hypocellularity, Anemia of inadequate production,... |
OMIM:614900 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
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Hepatomegaly, Neutropenia, Growth delay, Anemia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Short stature, Episodic hemolytic anemia, Craniosynostosis, Recurrent fractures, Delayed puberty,... |
ORPHA:251004 |
Sepsis In Premature Infants |
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Leukocytosis, Hepatomegaly, Neutropenia, Petechiae, Anemia, Splenomegaly, Purpura, Thrombocytopen... |
ORPHA:90051 |
Osteopetrosis, Autosomal Recessive 3 |
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Short stature, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedullary he... |
OMIM:259730 |
Macrophage Activation Syndrome |
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Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Juvenile rheumatoid ... |
ORPHA:158061 |
Aggressive Systemic Mastocytosis |
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Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Leukemia, Lymphadenopathy, Osteoporosis, An... |
ORPHA:98850 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
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Anemia |
ORPHA:371 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Pyoderma gangrenosum, Lymphadenopathy, In... |
OMIM:150550 |
Stormorken Syndrome |
|
Short stature, Asplenia, Anemia, Howell-Jolly bodies, Thrombocytopenia |
OMIM:185070 |
Osteopetrosis, Autosomal Recessive 1 |
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Hepatomegaly, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Splenomegaly, Pa... |
OMIM:259700 |
Portal Hypertension, Noncirrhotic, 2 |
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Ecchymosis, Hepatomegaly, Petechiae, Hepatocellular carcinoma, Ascites, Nodular regenerative hype... |
OMIM:619463 |
Pearson Syndrome |
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Hepatomegaly, Neutropenia, Growth delay, Macronodular cirrhosis, Anemia, Bone marrow hypocellular... |
ORPHA:699 |
Anti-Glomerular Basement Membrane Disease |
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Arthritis, Anemia, Purpura |
ORPHA:375 |
Hypophosphatasia |
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Recurrent fractures, Craniosynostosis, Anemia, Short stature |
ORPHA:436 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
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Short stature, Anemia, Limitation of joint mobility |
ORPHA:1192 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
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Hepatomegaly, Lymphadenopathy, Erythema, Splenomegaly, Flexion contracture, Autoimmune hemolytic ... |
OMIM:619183 |
Albers-Schönberg Osteopetrosis |
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Short stature, Generalized osteosclerosis, Anemia, Arthritis, Osteomyelitis, Mandibular osteomyel... |
ORPHA:53 |
Galactose Epimerase Deficiency |
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Jaundice, Hepatomegaly, Growth delay, Splenomegaly |
ORPHA:79238 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
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HbH hemoglobin, Microcytic anemia, Short stature, Flexion contracture |
ORPHA:98791 |
Familial Benign Copper Deficiency |
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Anemia, Short stature |
ORPHA:1551 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Hepatomegaly, Hepatitis, Splenomegaly, Hypertriglyceridemia, Pancytopenia, Aplastic anemia, Hemop... |
OMIM:300635 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Rickets, Hepatic s... |
ORPHA:79303 |
Wilson Disease |
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Hepatomegaly, Hepatitis, Anemia, Arthritis, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic ste... |
ORPHA:905 |
Retinohepatoendocrinologic Syndrome |
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Degenerative liver disease, Pallor |
OMIM:268040 |
Lysosomal Acid Lipase Deficiency |
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Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... |
OMIM:278000 |
Catastrophic Antiphospholipid Syndrome |
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Microangiopathic hemolytic anemia, Coombs-positive hemolytic anemia, Arthritis, Thrombocytopenia,... |
ORPHA:464343 |
Felty Syndrome |
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Hepatomegaly, Neutropenia, Synovitis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Bo... |
ORPHA:47612 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
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Reduced beta/alpha synthesis ratio |
OMIM:609057 |
Hyperlipoproteinemia, Type Id |
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Hepatomegaly, Splenomegaly |
OMIM:615947 |
Pgm3-Cdg |
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Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
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Anemia, Short stature |
OMIM:226670 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnormality of the p... |
ORPHA:54251 |
Chronic Bilirubin Encephalopathy |
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Prolonged neonatal jaundice, Hemolytic anemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Prolonged neonatal jaundice, Hemolytic anemia |
ORPHA:529799 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Rhabdoid Tumor |
|
Lymphadenopathy, Thrombocytopenia, Anemia, Neoplasm of the liver |
ORPHA:69077 |
Omenn Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly... |
ORPHA:39041 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Normocytic anemia, Leukemia, Lymphadenopathy, Splenomegaly, Purpura, Pallor, Abnorm... |
ORPHA:33226 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Shwachman-Diamond Syndrome 1 |
|
Irregular ossification at anterior rib ends, Hepatomegaly, Neutropenia, Short stature, Anemia, Pe... |
OMIM:260400 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Osteoporosis, Abnormal mast cell morphology, Splenomegaly, Increas... |
ORPHA:98848 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Intrauterine growth retardation, Neonatal death, Anemia, Decreased circulating cortisol level |
OMIM:618835 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... |
OMIM:300853 |
Gaucher Disease, Type I |
|
Hepatomegaly, Anemia, Splenomegaly, Pathologic fracture, Hypersplenism, Pancytopenia, Thrombocyto... |
OMIM:230800 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Short stature, Anemia, Arthritis, Splenomegaly, Camptodactyly of finger, Delayed pu... |
ORPHA:575 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Intrauterine growth retardation, Neonatal death, Anemia, Decreased circulating cortisol level |
OMIM:618839 |
Immunodeficiency 23 |
|
Neutropenia, Erythema, Joint hypermobility, Lymphopenia, Eosinophilia, Hemolytic anemia |
OMIM:615816 |
Hepatoportal Sclerosis |
|
Leukopenia, Hepatocellular carcinoma, Ascites, Anemia, Nodular regenerative hyperplasia of liver,... |
ORPHA:64743 |
Dermotrichic Syndrome |
|
Proportionate short stature, Anemia |
ORPHA:99688 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Neutropenia, Petechiae, Hyperlipidemia, Lymphadenopathy, Splenomegaly, Pancytopenia... |
ORPHA:79477 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Short stature, Fused cervical vertebrae |
ORPHA:2522 |
Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Microangiopathic hemolytic anemia, Lymphadenopathy, Ascites, Arthritis, Lymphopenia, ... |
ORPHA:93552 |
Coach Syndrome 3 |
|
Anemia, Portal fibrosis |
OMIM:619113 |
Essential Thrombocythemia |
|
Myelofibrosis, Abnormal platelet morphology, Acute leukemia, Splenomegaly |
ORPHA:3318 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Intrauterine growth retardation, Flexion contracture, Splenomegaly |
OMIM:608540 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis, Pallor, Short stature |
ORPHA:2786 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Short stature, Rickets, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic chole... |
OMIM:211600 |
Fanconi Anemia, Complementation Group C |
|
Neutropenia, Intrauterine growth retardation, Anemic pallor, Short stature, Leukemia, Anemia, Bon... |
OMIM:227645 |
Fumarase Deficiency |
|
Polycythemia, Pallor, Cholestasis |
OMIM:606812 |
Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:611721 |
Fanconi Anemia, Complementation Group E |
|
Neutropenia, Anemic pallor, Short stature, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thr... |
OMIM:600901 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies |
OMIM:223350 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Lymphopenia, Hypertriglyceridemia... |
OMIM:617591 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Growth delay, Lymphadenopathy, Osteopetrosis, Craniosynostosis, Anemia, Splenomegal... |
ORPHA:667 |
Sandhoff Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:796 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Hepatomegaly, Leukopenia, Anemia, Pancreatitis, Thrombocytopenia |
ORPHA:27 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Ascites, Short stature, Lymphadenopathy, Osteoporosis, Bone-marrow foam cells, Sple... |
OMIM:257200 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Intrauterine growth retardation, Ascites, Anemia, Cholestasis, Camptodactyly, Throm... |
OMIM:608104 |
Prolidase Deficiency |
|
Hepatomegaly, Petechiae, Anemia, Splenomegaly, Prolonged neonatal jaundice, Thrombocytopenia, Ski... |
OMIM:170100 |
Wiskott-Aldrich Syndrome |
|
Neutropenia, Acute leukemia, Petechiae, Hypoplasia of the thymus, Chronic leukemia, Abnormal plat... |
ORPHA:906 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Anemia |
OMIM:613092 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Macrocytic anemia, Splenomegaly |
OMIM:619046 |
X-Linked Agammaglobulinemia |
|
Neutropenia, Short stature, Abnormality of the lymphatic system, Hepatitis, Anemia, Abnormality o... |
ORPHA:47 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Anemic pallor, Short stature, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thr... |
OMIM:227650 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Osteoporosis, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary ... |
ORPHA:79301 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Specific Granule Deficiency 2 |
|
Neutropenia, Absent neutrophil specific granules, Anemia, Osteopenia, Thrombocytopenia |
OMIM:617475 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Redundant neck skin, Severe short-limb dwarfism, Rhizomelia, Anemia, Joint hyperfle... |
ORPHA:1842 |
Majeed Syndrome |
|
Leukocytosis, Hepatomegaly, Hypochromic microcytic anemia, Synovitis, Congenital hypoplastic anem... |
ORPHA:77297 |
Proteus Syndrome |
|
Mandibular hyperostosis, Thin bony cortex, Lymphangioma, Splenomegaly, Calvarial hyperostosis, Fa... |
OMIM:176920 |
Transaldolase Deficiency |
|
Hepatomegaly, Intrauterine growth retardation, Hepatic fibrosis, Anemia, Micronodular cirrhosis, ... |
OMIM:606003 |
Hellp Syndrome |
|
Thrombocytopenia, Hemolytic anemia, Microangiopathic hemolytic anemia, Decreased mean corpuscular... |
ORPHA:244242 |
Hepatoerythropoietic Porphyria |
|
Erythroid hyperplasia, Osteoporosis, Osteopenia, Splenomegaly, Hemolytic anemia, Osteolysis |
ORPHA:95159 |
3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, Postnatal growth retardation, Intrauterine growth retardation, ... |
OMIM:610198 |
Isolated Sedoheptulokinase Deficiency |
|
Hypochromic microcytic anemia, Short stature, Severe postnatal growth retardation, Hepatitis, Ane... |
ORPHA:440713 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Intrauterine growth retardation, Rhizomelia, Anemia, Osteopenia, Left ventricular hypertrophy, Po... |
OMIM:611209 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Short stature, Splenomegaly |
OMIM:602271 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Osteolysis involving bones of the feet, Arthritis, Splenomegaly, Lipogranulomatosis... |
OMIM:228000 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Growth delay, Short stature, Anemia, Reticulocytopenia |
OMIM:613309 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Pan... |
OMIM:308240 |
Immunodeficiency 54 |
|
Hepatomegaly, Intrauterine growth retardation, Short stature, Lymphadenopathy, Splenomegaly, Redu... |
OMIM:609981 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Autosomal Erythropoietic Protoporphyria |
|
Cirrhosis, Cholelithiasis, Microcytic anemia, Erythema |
ORPHA:79278 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Short stature, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenom... |
OMIM:612526 |
Distal Renal Tubular Acidosis |
|
Growth delay, Short stature, Rickets, Increased susceptibility to fractures, Reduced bone mineral... |
ORPHA:18 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphadenopathy, Arthritis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia,... |
OMIM:616100 |
Galactosemia Iii |
|
Jaundice, Hepatomegaly, Splenomegaly |
OMIM:230350 |
Lathosterolosis |
|
Hepatomegaly, Anisopoikilocytosis, Intrauterine growth retardation, Abnormal platelet morphology,... |
ORPHA:46059 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Rickets, Hypocholesterolemia, Splenomegaly, C... |
OMIM:607765 |
Familial Hemophagocytic Lymphohistiocytosis |
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Ecchymosis, Hepatomegaly, Neutropenia, Petechiae, Lymphadenopathy, Anemia, Splenomegaly, Cholesta... |
ORPHA:540 |
Familial Cold Autoinflammatory Syndrome 2 |
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Lymphadenopathy, Leukocytosis, Arthritis, Splenomegaly |
OMIM:611762 |
American Trypanosomiasis |
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Lymphadenopathy, Hepatomegaly, Pallor, Splenomegaly |
ORPHA:3386 |
Acute Monoblastic/Monocytic Leukemia |
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Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia, Cervical lymph... |
ORPHA:514 |
Pseudo-Torch Syndrome 3 |
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Leukocytosis, Lymphadenitis, Anemia, Cardiomegaly, Congenital thrombocytopenia |
OMIM:618886 |
Paroxysmal Nocturnal Hemoglobinuria |
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Leukopenia, Erythroid hyperplasia, Anemia, Reticulocytosis, Pancytopenia, Thrombocytopenia, Hemol... |
ORPHA:447 |
Retinitis Pigmentosa 81 |
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Pallor |
OMIM:617871 |
Immunodeficiency 87 And Autoimmunity |
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Hepatomegaly, Cervical lymphadenopathy, Intrauterine growth retardation, Ascites, Growth delay, J... |
OMIM:619573 |
Celiac Disease, Susceptibility To, 1 |
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Thrombocytosis, Macrocytic anemia, Short stature, Rickets, Iron deficiency anemia, Osteoporosis, ... |
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