| Mental Retardation, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... |
OMIM:616689 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... |
ORPHA:766 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Mental Retardation, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia |
OMIM:613977 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of ina... |
OMIM:237800 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Cirrhosis, Hypochromia, Elevated hepatic transamina... |
OMIM:616860 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
| Maturity-Onset Diabetes Of The Young, Type 4 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:610508 |
| Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Abnormali... |
OMIM:613313 |
| Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
| Type 1 Diabetes Mellitus 2 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:125852 |
| Mental Retardation, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
| Diamond-Blackfan Anemia-Like |
|
Pure red cell aplasia, Steroid-responsive anemia |
OMIM:617911 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate pr... |
OMIM:613673 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Elevated hepatic transaminase, Decreased transferri... |
ORPHA:300298 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... |
OMIM:615285 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
| Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
| Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... |
OMIM:618963 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Elevated red cell adenosine deaminase level, Hemolytic anemia, Stomatocytosis, Hyperuricemia, Ani... |
OMIM:102730 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... |
OMIM:615631 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
| Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
| Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
| Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
| Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin |
ORPHA:231393 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... |
OMIM:224120 |
| Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... |
OMIM:206000 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Hypochromia, Hepatomegaly, Anemia, Splenomegaly, De... |
OMIM:615234 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... |
ORPHA:846 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
| Glutamate-Cysteine Ligase Deficiency |
|
Reticulocytosis, Jaundice, Hepatosplenomegaly, Hemolytic anemia |
ORPHA:33574 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:618852 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Diamond-Blackfan Anemia 13 |
|
Elevated red cell adenosine deaminase level, Normocytic anemia |
OMIM:615909 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... |
OMIM:202700 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia |
ORPHA:231401 |
| Polycythemia Vera |
|
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... |
OMIM:263300 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Spherocytosis |
OMIM:612653 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... |
OMIM:300835 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Acanthocytosis, Sp... |
OMIM:616649 |
| Sickle Cell Anemia |
|
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... |
ORPHA:232 |
| Familial Pseudohyperkalemia |
|
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... |
ORPHA:90044 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis |
OMIM:612690 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... |
ORPHA:3203 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Dehydrated Hereditary Stomatocytosis |
|
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... |
ORPHA:3202 |
| Microcephaly 25, Primary, Autosomal Recessive |
|
Attention deficit hyperactivity disorder |
OMIM:618351 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... |
ORPHA:75564 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Hepatomegaly, Jaundice, Sp... |
OMIM:185000 |
| Elliptocytosis 2 |
|
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Cholelithiasis, Jaundice, Splenomegaly, Sp... |
OMIM:182900 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:300448 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Jaundice, ... |
OMIM:109270 |
| Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:617907 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:617980 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Iron deficiency anemia, Increased total iron binding capacity, Elevated hepatic transaminase, Hyp... |
OMIM:616278 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Hepatomegaly, Thrombocytopeni... |
ORPHA:848 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi... |
ORPHA:86841 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... |
ORPHA:67044 |
| Cryohydrocytosis |
|
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly |
OMIM:185020 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Atransferrinemia |
|
Hypochromic anemia, Atransferrinemia, Abnormality of the liver |
OMIM:209300 |
| Beta-Thalassemia Intermedia |
|
Cirrhosis, Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Hepatocell... |
ORPHA:231222 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Hemolytic anemia, Reticulocytosis, Hyperuricemia, Reduced erythrocyte ... |
OMIM:232800 |
| Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... |
OMIM:187950 |
| Juvenile Arthritis |
|
Leukocytosis, Thrombocytosis |
OMIM:618795 |
| Apolipoprotein A-I Deficiency |
|
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... |
ORPHA:425 |
| Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Hyperbilirubinemia, Cholelithias... |
OMIM:235700 |
| Developmental And Epileptic Encephalopathy 50 |
|
Anisopoikilocytosis, Anemia, Acanthocytosis, Hyperammonemia, Schistocytosis |
OMIM:616457 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Thrombocytosis, Microcytic anemia, Pancytopenia, Elevated circulating C-reactive protein concentr... |
OMIM:604416 |
| Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased total iron binding capacity, Elevated hepatic transaminase, Hyperbilirubinemia, Abnorma... |
ORPHA:98870 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... |
OMIM:300908 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Immunodeficiency 27A |
|
Thrombocytosis, Increased circulating IgM level, Leukocytosis, Histiocytosis, Increased circulati... |
OMIM:209950 |
| Harderoporphyria |
|
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pr... |
OMIM:618892 |
| Glut1 Deficiency Syndrome 2 |
|
Reticulocytosis |
OMIM:612126 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... |
OMIM:300751 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Attention deficit hyperactivity disorder |
OMIM:245570 |
| Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... |
OMIM:222800 |
| Sitosterolemia 1 |
|
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... |
OMIM:210250 |
| Majeed Syndrome |
|
Microcytic anemia, Erythroid hyperplasia, Anemia of inadequate production, Decreased mean corpusc... |
OMIM:609628 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... |
ORPHA:288 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume |
OMIM:252270 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
| Hypermanganesemia With Dystonia 1 |
|
Cirrhosis, Increased total iron binding capacity, Elevated hepatic transaminase, Polycythemia, He... |
OMIM:613280 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly |
OMIM:314050 |
| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia |
OMIM:206100 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly |
OMIM:611490 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytop... |
OMIM:617780 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Beta-Thalassemia Major |
|
Hypochromic microcytic anemia, Cirrhosis, Abnormality of iron homeostasis, Persistence of hemoglo... |
ORPHA:231214 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Iron deficiency anemia, Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte prot... |
OMIM:300752 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Increased circulating ferritin concentration, Increased mean corpuscular hemoglobin concentration... |
OMIM:194380 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Acanthocytosis |
OMIM:615558 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hepatosplenome... |
OMIM:611590 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased serum creatinine |
ORPHA:54057 |
| Pericardial Effusion, Chronic |
|
Polycythemia |
OMIM:260900 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Abnormal thromboc... |
OMIM:612840 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Lymphopen... |
OMIM:604250 |
| Refractory Anemia |
|
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... |
ORPHA:98826 |
| Primary Myelofibrosis |
|
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... |
ORPHA:824 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly,... |
OMIM:266200 |
| Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis |
OMIM:141700 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Congenital thrombocytopenia, Poikilocytosis, Anemia of inadequate production |
OMIM:300367 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Reticulocytosis, Hemolytic anemia |
OMIM:300653 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia |
OMIM:242880 |
| Elliptocytosis 3 |
|
Chronic hemolytic anemia, Elliptocytosis, Intermittent jaundice, Pyropoikilocytosis, Decreased me... |
OMIM:617948 |
| Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Episodic he... |
OMIM:601775 |
| Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Cirrhosis, Abnormality of iron homeostasis, Persistence of hemoglo... |
ORPHA:231226 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Pappenheimer bodies, Microcytic anemia, Erythroid hyperplasia, Sideroblastic ... |
OMIM:600462 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies |
OMIM:140700 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Reticulocytosis, Hyperbilirubinemia, Hemolytic anemia, Decreased hemoglobin concentration |
ORPHA:713 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... |
OMIM:619041 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Hyperactivity |
OMIM:617113 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia |
OMIM:610629 |
| Porphyria Cutanea Tarda |
|
Increased circulating ferritin concentration, Hepatic lobular inflammation, Elevated hepatic tran... |
ORPHA:101330 |
| Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... |
ORPHA:521 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia |
OMIM:619398 |
| Rh-Null, Regulator Type |
|
Jaundice, Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis |
OMIM:268150 |
| Copper Deficiency, Familial Benign |
|
Anemia, Abnormal circulating copper concentration, Decreased circulating copper concentration |
OMIM:121270 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:312500 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
| Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
| Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Decreased LDL cholesterol concentration, Acanthocytosis |
OMIM:607236 |
| African Iron Overload |
|
Peritonitis, Increased circulating ferritin concentration, Micronodular cirrhosis, Abnormal heart... |
ORPHA:139507 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Anemia |
OMIM:610539 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Hypochromic microcytic anemia |
OMIM:301310 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Elliptocytosis, Anisocytosis, Decreased serum iron, Anemia, Decreased mean corpuscular volume, Po... |
OMIM:616959 |
| Pyropoikilocytosis, Hereditary |
|
Microspherocytosis, Hemolytic anemia, Elliptocytosis, Pyropoikilocytosis |
OMIM:266140 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
| Aceruloplasminemia |
|
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Decreased circulatin... |
ORPHA:48818 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, Thrombocytosis, Leukocytosis, Decreased circulating total IgM, B lymphocytopenia, De... |
OMIM:619281 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati... |
ORPHA:53693 |
| Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Decreased plasma carnitine, Anemia |
OMIM:611283 |
| Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Candidiasis, Familial, 2 |
|
Decreased serum iron, Hypereosinophilia, Increased circulating IgE level, Lymphadenopathy |
OMIM:212050 |
| Aceruloplasminemia |
|
Increased circulating ferritin concentration, Decreased serum iron, Aceruloplasminemia, Anemia |
OMIM:604290 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... |
ORPHA:822 |
| Autosomal Erythropoietic Protoporphyria |
|
Cirrhosis, Microcytic anemia, Cholelithiasis, Decreased liver function, Abnormal circulating porp... |
ORPHA:79278 |
| Spherocytosis, Type 3 |
|
Spherocytosis, Hemolytic anemia |
OMIM:270970 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... |
OMIM:274150 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... |
OMIM:133180 |
| Wolfram-Like Syndrome, Autosomal Dominant |
|
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance |
OMIM:614296 |
| Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly |
OMIM:611804 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... |
OMIM:618805 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
| Ataxia-Pancytopenia Syndrome |
|
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... |
ORPHA:2585 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Hypochromic anemia, Microcytic anemia |
OMIM:618451 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia |
OMIM:618811 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ... |
OMIM:231100 |
| Acatalasemia |
|
Type I diabetes mellitus, Type II diabetes mellitus, Microcytic anemia |
ORPHA:926 |
| Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Neutropenia, Microcytic anemia |
OMIM:251900 |
| Autoimmune Lymphoproliferative Syndrome |
|
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... |
OMIM:601859 |
| Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Normochromic anemia, Macrocytic anemia, Reticulocyto... |
OMIM:615550 |
| Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Elevated hepatic transaminase, Abnormality of iron ... |
ORPHA:79230 |
| Abetalipoproteinemia |
|
Abetalipoproteinemia, Acanthocytosis |
OMIM:200100 |
| Familial Benign Copper Deficiency |
|
Anemia, Decreased circulating copper concentration |
ORPHA:1551 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Hypochromic microcytic anemia, Decreased circulating antibody level, Sideroblastic anemia, B lymp... |
OMIM:616084 |
| Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Cirrhosis, Hepatomegaly, Splenomegaly, Dilated card... |
OMIM:602390 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatic steatosis, Hepatosplenomegaly, Microcytic anemia |
OMIM:619013 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... |
OMIM:235400 |
| Alpha-Heavy Chain Disease |
|
Hypocalcemia, Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Chronic hemolytic anemia, Elliptocytosis, Hepatocellular necrosis, Reticulocytosis, Hepatomegaly,... |
OMIM:618278 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... |
ORPHA:444463 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia |
OMIM:612527 |
| Tempi Syndrome |
|
Polycythemia, Increased hematocrit |
ORPHA:284227 |
| Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Hypochromic microcytic anemia, Decreased circulating ferritin concentration |
ORPHA:54028 |
| Congenital Atransferrinemia |
|
Abnormality of the pancreas, Anemia |
ORPHA:1195 |
| Eosinophilia, Familial |
|
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia |
OMIM:131400 |
| Pancytopenia And Occlusive Vascular Disease |
|
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia |
OMIM:167850 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
| Refractory Celiac Disease |
|
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Iron deficiency anemia, Elevated hepatic transam... |
ORPHA:398063 |
| Trimethylaminuria |
|
Neutropenia, Anemia, Splenomegaly |
OMIM:602079 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Hepatomegaly, Splenomegaly, Ly... |
OMIM:618495 |
| Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemia, Hepatosplenomegaly |
OMIM:259710 |
| Blue Rubber Bleb Nevus |
|
Microcytic anemia |
ORPHA:1059 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Cho... |
OMIM:603358 |
| Mcleod Syndrome |
|
Elevated circulating creatine kinase concentration, Hepatosplenomegaly, Abnormal erythrocyte morp... |
OMIM:300842 |
| Thrombocytopenia 2 |
|
Thrombocytopenia |
OMIM:188000 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Amme Complex |
|
Elliptocytosis |
OMIM:300194 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia |
ORPHA:3240 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis |
OMIM:613370 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced natural killer cell activity |
OMIM:608898 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder |
OMIM:617787 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
| Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Hepatomegaly, Jaundi... |
OMIM:603552 |
| Cog2-Cdg |
|
Decreased circulating ceruloplasmin concentration, Hepatosplenomegaly, Decreased liver function, ... |
ORPHA:435934 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Anisopoikilocytosis, Anemia |
OMIM:615789 |
| Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Macrocytic anemia, Leukopenia, Reticulocytopenia |
OMIM:612528 |
| Niemann-Pick Disease, Type A |
|
Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonat... |
OMIM:257200 |
| Majeed Syndrome |
|
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Hepatomegaly, Splenom... |
ORPHA:77297 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increased serum iron, ... |
ORPHA:446 |
| Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal natural killer cell phys... |
OMIM:613101 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Hepatomegaly, Hypoalbuminemia |
OMIM:226300 |
| Dilated Cardiomyopathy With Ataxia |
|
Hypochromic microcytic anemia, Elevated hepatic transaminase, Microvesicular hepatic steatosis, E... |
ORPHA:66634 |
| Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume |
OMIM:618849 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microcytic anemia |
OMIM:612379 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Ascites, Anemia, Sple... |
OMIM:259720 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... |
OMIM:159550 |
| Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
| Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Diabetes mellitus |
OMIM:598500 |
| Lathosterolosis |
|
Intrahepatic cholestasis, Anisopoikilocytosis, Thrombocytopenia, Hepatomegaly, Hepatic failure, A... |
ORPHA:46059 |
| Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Pyrimidine-responsive megalo... |
OMIM:258900 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Hyperalaninemia, Hypochromic microcytic anemia, Anemia |
OMIM:619147 |
| Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, ... |
ORPHA:100024 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Dermatitis Herpetiformis |
|
Microcytic anemia |
ORPHA:1656 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Micronodular cirrhosis, Increased total iron binding capacity, Elevated hepatic transaminase, Hyp... |
ORPHA:309854 |
| Isolated Sedoheptulokinase Deficiency |
|
Hypochromic microcytic anemia, Cholestasis, Hepatitis, Cholestatic liver disease, Anemia, Portal ... |
ORPHA:440713 |
| Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
| Lathosterolosis |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Abnormal circulating cholesterol concent... |
OMIM:607330 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia, Glucose intolerance |
OMIM:147630 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia |
OMIM:273680 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... |
OMIM:612714 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
| Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Hypochromic anemia |
OMIM:257790 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Increased circulating IgA level, Lymphopenia, Paratracheal lymphadenopathy, Folli... |
OMIM:615934 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Abnormal hemoglobin, Anemia, Splenomegaly |
ORPHA:163596 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
| Mitochondrial Dna Depletion Syndrome 19 |
|
Microcytic anemia |
OMIM:618972 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... |
OMIM:614470 |
| Malaria |
|
Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Anemia |
ORPHA:673 |
| Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... |
OMIM:617514 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Patent ductus arteriosus, Ascites, Microcytic anemia |
ORPHA:90308 |
| 3-Methylglutaconic Aciduria, Type V |
|
Normochromic microcytic anemia, Microvesicular hepatic steatosis |
OMIM:610198 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... |
OMIM:603909 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Attention deficit hyperactivity disorder |
OMIM:204750 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... |
OMIM:187800 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology |
ORPHA:2522 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Thrombocytopenia, Patent ductus arteriosus, Sideroblastic anemia |
OMIM:617021 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly |
OMIM:615085 |
| Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
| Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia |
OMIM:606893 |
| Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
| Srd5A3-Cdg |
|
Microcytic anemia |
ORPHA:324737 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly |
OMIM:153670 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia |
ORPHA:517 |
| Sotos Syndrome 3 |
|
Hyperactivity |
OMIM:617169 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Normochromic anemia, Hemolytic anemia |
OMIM:245900 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... |
OMIM:614480 |
| Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity |
OMIM:616657 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... |
OMIM:619130 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
| Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
| Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Hepatocel... |
OMIM:235200 |
| Niemann-Pick Disease, Type B |
|
Bone-marrow foam cells, Hepatomegaly, Hypertriglyceridemia, Sea-blue histiocytosis, Splenomegaly,... |
OMIM:607616 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
| Glycogen Storage Disease Xii |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... |
OMIM:611881 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly |
OMIM:615947 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Hypoch... |
ORPHA:71 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Peritonitis, Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Elevated circulati... |
ORPHA:90038 |
| Immunodeficiency 48 |
|
Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly |
OMIM:269840 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia, Iron deficiency anemia |
ORPHA:89937 |
| Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormal thrombocyte morphology, Splenomegaly |
ORPHA:721 |
| Fumarase Deficiency |
|
Polycythemia, Hyperbilirubinemia, Hepatic failure, Cholestasis |
OMIM:606812 |
| Fanconi Anemia, Complementation Group T |
|
Thrombocytopenia, Pancytopenia, Anemia |
OMIM:616435 |
| Acute Erythroid Leukemia |
|
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia, Bone marrow hypocellularity |
ORPHA:318 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Neutropenia, Anemia |
OMIM:614082 |
| Hemolytic Anemia, Congenital, X-Linked |
|
Jaundice, Hemolytic anemia |
OMIM:301015 |
| Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia |
OMIM:194350 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis |
OMIM:604777 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hepatoc... |
ORPHA:465508 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Acanthocytosis |
OMIM:200150 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... |
OMIM:619220 |
| Hepatocellular Carcinoma |
|
Abnormality of the hepatic vasculature, Thrombocytosis, Elevated hepatic transaminase, Hemobilia,... |
ORPHA:88673 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Neonatal hypoglycemia, Macrocytic anemia |
OMIM:619046 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Somatostatinoma |
|
Hypochromic microcytic anemia, Extrahepatic cholestasis, Abnormal abdomen morphology, Intrahepati... |
ORPHA:97283 |
| Poems Syndrome |
|
Thrombocytosis, Increased circulating antibody level, Polycythemia, Visceromegaly, Ascites, Diabe... |
ORPHA:2905 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia |
OMIM:259730 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Thrombocytopenia, Cardiomegaly, Anemia, As... |
ORPHA:858 |
| Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Neutropenia, Anemia, Anemia of inadequate production |
OMIM:614900 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia |
OMIM:141000 |
| Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... |
OMIM:618534 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... |
OMIM:607685 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Thrombocytosis, Leukocytosis, Decreased circulating antibody level, Lymphopenia, Pancytopenia, He... |
OMIM:615688 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Nephropathy With Pretibial Epidermolysis Bullosa And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
| Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Atrial septal defect, Elevated hepatic transaminase, Exocr... |
ORPHA:1667 |
| Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:141750 |
| Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Hepatic steatosis, Anemia, Macrocytic anemia |
OMIM:615438 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia |
OMIM:300946 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Megaloblastic anemia, Thrombocytopenia, Jaundice, Pancytopenia, Hepatomegaly |
OMIM:613839 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly |
OMIM:608971 |
| Autoerythrocyte Sensitization Syndrome |
|
Thrombocytosis, Impaired platelet adhesion, Abnormal erythrocyte morphology, Autoimmune thrombocy... |
ORPHA:324636 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Hyperlysinemia, Type I |
|
Hyperlysinemia, Anemia |
OMIM:238700 |
| Rosaï-Dorfman Disease |
|
Anemia, Dysgammaglobulinemia, Lymphadenopathy |
ORPHA:158014 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Lcat Deficiency |
|
Hemolytic anemia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy |
ORPHA:650 |
| Immunodeficiency 47 |
|
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Decreased circulating antibody level... |
OMIM:300972 |
| Idiopathic Aplastic Anemia |
|
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia |
ORPHA:88 |
| Livedoid Vasculopathy |
|
Leukocytosis, Polycythemia, Abnormal circulating lipid concentration, Pancytopenia, Anemia, Hyper... |
ORPHA:542643 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal ... |
OMIM:616828 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Anemia |
OMIM:618838 |
| Schnitzler Syndrome |
|
Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy |
ORPHA:37748 |
| Cernunnos-Xlf Deficiency |
|
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... |
ORPHA:169079 |
| Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... |
OMIM:613011 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Thrombocytopenia, Hepatomegaly, Pancreatitis, Anemia, Leukopenia, Macrocytic anemia |
ORPHA:27 |
| Trichohepatoenteric Syndrome 1 |
|
Cirrhosis, Thrombocytosis, Abnormality of iron homeostasis, Hypermethioninemia, Increased mean pl... |
OMIM:222470 |
| Fanconi Anemia, Complementation Group V |
|
Thrombocytopenia, Neutropenia, Anemia, Elevated alpha-fetoprotein |
OMIM:617243 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volum... |
OMIM:277410 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Hypochromic microcytic anemia, Ventricular septal defect, Perimembranous ventricular septal defec... |
OMIM:301040 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:172 |
| Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Thrombocytosis, Elevated hepatic transaminase, Leukocytosis, Hyperuricemia, Acute pancreatitis, H... |
ORPHA:20 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly |
ORPHA:71493 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Abnormal thrombocyte morphology, Asplenia, Anemia |
ORPHA:3204 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thrombocytopenia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
| Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Elevated hepatic transaminase, Macrocytic a... |
OMIM:212750 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly, Hyperkalemia |
OMIM:608885 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus |
ORPHA:49827 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hepatosplenomegaly |
ORPHA:313855 |
| Cogan Syndrome |
|
Leukocytosis, Thrombocytosis, Anemia |
ORPHA:1467 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... |
OMIM:615513 |
| Galactosemia Iii |
|
Hepatomegaly, Jaundice, Hypergalactosemia, Splenomegaly |
OMIM:230350 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia |
OMIM:615578 |
| Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Anemia, Cervical lymph... |
ORPHA:514 |
