| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Refractory anemia with ringed sideroblasts, Abnormal erythrocyte morphology |
OMIM:182170 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Refractory anemia with ringed sideroblasts, Splenomegaly, Anemia, Thrombocytopenia,... |
OMIM:133180 |
| Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Refractory macrocytic anemia, Myelodysplasia, Erythroid hypoplasia |
OMIM:153550 |
| Refractory Anemia |
|
Anemia of inadequate production, Single lineage myelodysplasia, Normocytic anemia, Erythroid hypo... |
ORPHA:98826 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Myelodysplasia, Pancytopenia, Bone marrow hypocel... |
OMIM:619041 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Multiple lineage myelodysplasia, Erythroid hypoplasia, Macrocytic anemi... |
ORPHA:86841 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver |
OMIM:206100 |
| Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
| Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Neutropenia, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, Monocytosis, Autoimmune ... |
OMIM:614470 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, A... |
ORPHA:231401 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Glut1 Deficiency Syndrome 2 |
|
Ataxia, Splenomegaly, Hemolytic anemia, Choreoathetosis, Reticulocytosis |
OMIM:612126 |
| Glutamate-Cysteine Ligase Deficiency |
|
Ataxia, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
ORPHA:33574 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia, Ataxia |
ORPHA:2802 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
| Folate Malabsorption, Hereditary |
|
Ataxia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
| Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
| Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Ataxia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet functi... |
ORPHA:2585 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Ataxia, Dysmetria, Acute myelomonocytic leukemia, Pancytopenia, Unsteady gait... |
OMIM:159550 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Pancreatitis, Hepatomegaly, Leukopenia, Macrocytic anemia, Choreoathetosis, Anemia, Throm... |
ORPHA:27 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Ataxia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Jaundice |
OMIM:613839 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
| Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic transaminase, Anemia, He... |
OMIM:615438 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Multiple myeloma, Hemophagocytosis, Hepatic failure, T-cell lymphoma, Pancytopenia, Burkitt lymph... |
ORPHA:158057 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
| Diamond-Blackfan Anemia 4 |
|
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612527 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
| Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Hyperlysinemia, Type I |
|
Anemia |
OMIM:238700 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Anemia, Sideroblastic, 1 |
|
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... |
OMIM:300751 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... |
OMIM:618849 |
| Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia |
OMIM:598500 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
| Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia |
ORPHA:51208 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Lymphoma, Myelodysplasia, Bone marrow hypocellularity, Refractory anemia... |
OMIM:616871 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
| Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
| Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
| Harderoporphyria |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolonged neonatal jaundice, Reticulocytosis |
OMIM:618892 |
| Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... |
OMIM:615550 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Gait disturbance, Megaloblastic anemia, Lethargy |
OMIM:236270 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils, Osteosarcoma |
ORPHA:2760 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Anisocy... |
OMIM:224120 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:314050 |
| Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Dysmetria, Macrocytic anemia |
OMIM:615578 |
| Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Ataxia |
OMIM:300653 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Gait disturbance, Megaloblastic anemia |
OMIM:250940 |
| Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia |
OMIM:194350 |
| Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Lethargy |
OMIM:611590 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... |
OMIM:153600 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
| Diamond-Blackfan Anemia 5 |
|
Leukopenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612528 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos... |
OMIM:616860 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice, Ly... |
OMIM:603552 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia |
OMIM:300946 |
| Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia, Lethargy |
ORPHA:49827 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Ataxia, Splenomegaly, Macrocytic anemia |
OMIM:619046 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Gait disturbance, Ataxia, Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... |
ORPHA:35858 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Myelodysplasia, Microcytic a... |
ORPHA:846 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
| Glycogen Storage Disease Vii |
|
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Retic... |
OMIM:232800 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia |
OMIM:607616 |
| Majeed Syndrome |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... |
OMIM:609628 |
| Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia |
ORPHA:54057 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice |
OMIM:185000 |
| Neutrophilia, Hereditary |
|
Myelodysplasia, Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elevated hepatic transaminase, A... |
ORPHA:98870 |
| Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
| Glioma Susceptibility 9 |
|
Glioma, Renal neoplasm, Neoplasm of the lung, Leukemia, Astrocytoma |
OMIM:616568 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Spherocytosis, Type 4 |
|
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:612653 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
| Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Hepatomegaly, Abnormality of the liver |
ORPHA:1980 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
| Malaria |
|
Gait imbalance, Anemia, Thrombocytopenia |
ORPHA:673 |
| Hereditary Spherocytosis |
|
Cholelithiasis, Ataxia, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, ... |
ORPHA:822 |
| Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia |
ORPHA:157991 |
| Spherocytosis, Type 2 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:616649 |
| Anemia, Sideroblastic, 5 |
|
Refractory anemia with ringed sideroblasts, Hypochromic microcytic anemia, Neutropenia, Reduced h... |
OMIM:619523 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation |
OMIM:131440 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... |
OMIM:300908 |
| Amed Syndrome, Digenic |
|
Leukopenia, Myelodysplasia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acute myeloid ... |
OMIM:619151 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... |
OMIM:194380 |
| Aggressive Systemic Mastocytosis |
|
Decreased liver function, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenom... |
ORPHA:98850 |
| Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
| Spherocytosis, Type 1 |
|
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:182900 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Abnormality of the liver, Neutropenia, Macrocytic anemia, Panc... |
ORPHA:2169 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
| Hypermanganesemia With Dystonia 1 |
|
Decreased liver function, Bradykinesia, Hepatomegaly, Polycythemia, Cirrhosis, Elevated hepatic t... |
OMIM:613280 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
| Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Thrombocytopenia |
OMIM:189800 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Transcobalamin Ii Deficiency |
|
Ataxia, Macrocytic anemia, Pancytopenia, Lethargy, Neutropenia, Reticulocytopenia |
OMIM:275350 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Multiple myeloma, Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepato... |
ORPHA:98849 |
| Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia, Ascites |
ORPHA:295 |
| Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas |
ORPHA:1195 |
| Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Single lineage myelodysplasia, Abnormal mean corpu... |
ORPHA:86839 |
| Dohle Bodies And Leukemia |
|
Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia |
OMIM:223350 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Cirrhosis, Aplastic anemia, Myeloid leukemia, Mediastinal lymphadenopathy, Myelodysplasia, Pancyt... |
OMIM:614742 |
| Hereditary Elliptocytosis |
|
Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia, Poikilocytosis, Cong... |
ORPHA:288 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia, Spastic ataxia, Lethargy |
OMIM:277410 |
| Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis |
ORPHA:90044 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
| Atransferrinemia |
|
Abnormality of the liver, Hypochromic anemia |
OMIM:209300 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
| Rh Deficiency Syndrome |
|
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... |
ORPHA:71275 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis, Ataxia |
ORPHA:713 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ataxia, Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... |
ORPHA:3226 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
| Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
| Megaloblastic Anemia, Folate-Responsive |
|
Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblastic anemia, Episodic hemolyti... |
OMIM:601775 |
| Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology |
ORPHA:2575 |
| Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
| Essential Thrombocythemia |
|
Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Abnormality of thrombocytes, Acute le... |
ORPHA:3318 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Lymphedema, Primary, With Myelodysplasia |
|
Myelodysplasia, Pancytopenia, Verrucae, Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio |
OMIM:614038 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:613101 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
| Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... |
OMIM:245480 |
| Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... |
OMIM:210250 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
| Gray Platelet Syndrome |
|
Myelodysplasia, Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly |
ORPHA:721 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis |
OMIM:301083 |
| Immunodeficiency 16 |
|
Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... |
OMIM:619824 |
| Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
| Pericardial Effusion, Chronic |
|
Polycythemia |
OMIM:260900 |
| Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
| Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... |
ORPHA:848 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
| Tempi Syndrome |
|
Polycythemia, Hemangioma, Ascites, Increased hematocrit |
ORPHA:284227 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Refractory Celiac Disease |
|
Increased proportion of HLA DR+ T cells, Normocytic anemia, Lymphoma, Iron deficiency anemia, Mac... |
ORPHA:398063 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Cirrhosis, Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Leukemia |
OMIM:614743 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Choreoathetosis, Neutropenia, Anemia, Thrombocytopenia,... |
ORPHA:79312 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
| Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Myelodys... |
OMIM:614172 |
| Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Difficulty walking, Microcytic anemia, Hepatomegaly, Neutropenia |
OMIM:251900 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Sterile abscess, Hepatosplenomegaly, Thrombocytosis, Microcytic anemia, Pancytopenia |
OMIM:604416 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Myelodysplasia, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Granulocytopenia, Macrocytic anemia |
OMIM:606164 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hemangiomatosis, Anemia, Thrombocytopenia, Ascites, Visceral angiomatosis |
ORPHA:2123 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Pancreatitis, Hepatomegaly, Choreoathetosis, Neutropenia, Anemia, Thrombocytopenia, Lethargy |
ORPHA:289916 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Elevated hepatic transaminase, Ascites, Anemia, Thrombocytopenia, Jaundice, Cardiom... |
ORPHA:858 |
| Shwachman-Diamond Syndrome |
|
Increased mean corpuscular volume, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, ... |
ORPHA:811 |
| Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Hemolytic anemia, Cholecystit... |
OMIM:615512 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... |
OMIM:612714 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Myelodysplasia, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Neuroblastoma, Acute monocytic leukemia, Lymphoma, Myelodysplasia... |
OMIM:601399 |
| Acute Erythroid Leukemia |
|
Leukopenia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Anemia, Refractory a... |
ORPHA:318 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Hypochromic microcytic anemia, S... |
OMIM:301310 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Hemangioma, Increased hemoglobin, Increased hematocrit |
OMIM:263400 |
| Vexas Syndrome |
|
Myelodysplasia, Thrombocytopenia, Macrocytic anemia |
OMIM:301054 |
| Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
| Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
| Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia, Bone marrow hypocellularity, Acute... |
ORPHA:98827 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Sideroblastic anemia, Thrombocytopenia |
OMIM:617021 |
| Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma |
OMIM:247640 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphoma, Anemia, Ascites, Lymphadenopathy |
ORPHA:100025 |
| Spastic Paraplegia And Evans Syndrome |
|
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia |
OMIM:601608 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
| Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Malignant genitourinary tract tumor, Neutropenia, Persistence ... |
ORPHA:124 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Decreased liv... |
ORPHA:231222 |
| Immunodeficiency 46 |
|
Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
| Lymphoproliferative Syndrome 1 |
|
Hodgkin lymphoma, B-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoproliferative disorder, Leuk... |
OMIM:613011 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Elevated hepatic transaminase, Iron deficiency anemia |
OMIM:300752 |
| Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hemangioma, Hepatosplenom... |
ORPHA:824 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy |
ORPHA:100024 |
| Wolfram Syndrome 1 |
|
Megaloblastic anemia, Ataxia, Sideroblastic anemia, Thrombocytopenia |
OMIM:222300 |
| Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia |
ORPHA:90045 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Megaloblastic anemia, Pancytopenia, Neutropenia, Thrombocytopenia, Lethargy |
OMIM:277380 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
| Babesiosis |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Thrombocytopenia, Jaun... |
ORPHA:108 |
| Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Elevated hepatic transami... |
ORPHA:507 |
| Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... |
ORPHA:514 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Neutropenia, Thrombocytopenia, Normochromic anemia, Lethargy, Abnormal posturing |
OMIM:614857 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
| Pancreatic Colipase Deficiency |
|
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency |
ORPHA:309108 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
| Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Hypochromic anemia |
OMIM:257790 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Gait disturbance, Ataxia, Macrocytic anemia |
ORPHA:98673 |
| Primary Erythromelalgia |
|
Abnormality of thrombocytes, Leukemia |
ORPHA:90026 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Elevated hepatic tran... |
ORPHA:300298 |
| Gaucher Disease, Type Ii |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:230900 |
| Non-Involuting Congenital Hemangioma |
|
Hemangioma, Perineal hemangioma, Hepatic hemangioma, Midfrontal capillary hemangioma, Thrombocyto... |
ORPHA:141179 |
| N Syndrome |
|
Neoplasm, Leukemia |
OMIM:310465 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase conce... |
OMIM:618805 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Iron deficiency anemia, Elevated hepatic transaminas... |
OMIM:616278 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Anemia, Unsteady gait |
OMIM:610090 |
| Transaldolase Deficiency |
|
Cirrhosis, Anemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:101028 |
| Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Prolonged neonatal jaundice, Microangiopathic hemolytic anemia, Reticulocytosis, ... |
OMIM:274150 |
| Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia, Multiple lipomas |
ORPHA:529 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Normochromic anemia |
OMIM:245900 |
| Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
| Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
| Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
| Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
| Kasabach-Merritt Syndrome |
|
Capillary hemangioma, Tufted angioma, Hemangioma, Leukopenia, Reticulocytosis, Hepatic hemangioma... |
ORPHA:2330 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia |
OMIM:613313 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Inability to walk, Hepatomegaly, Splenomegaly, Elevated circulating aspar... |
OMIM:257200 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly |
ORPHA:163596 |
| Rhabdoid Tumor |
|
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Anemia, Thrombocyt... |
ORPHA:69077 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia, Erythroid hyper... |
OMIM:600462 |
| Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Leukopenia |
OMIM:618116 |
| Rapidly Involuting Congenital Hemangioma |
|
Hemangioma, Perineal hemangioma, Hepatic hemangioma, Midfrontal capillary hemangioma, Thrombocyto... |
ORPHA:141184 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis, ... |
OMIM:617948 |
| Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia |
OMIM:606893 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia, Falls |
OMIM:618811 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Ataxia, Neutropenia |
OMIM:266130 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... |
OMIM:618278 |
| Mismatch Repair Cancer Syndrome 2 |
|
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme |
OMIM:619096 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Hepatomegaly, Lethargy |
ORPHA:28 |
| Cartilage-Hair Hypoplasia |
|
Lymphopenia, Congenital hypoplastic anemia, Lymphoma, Macrocytic anemia, Impaired lymphocyte tran... |
OMIM:250250 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Hemangioma, Eosinophilia, Monocytosis, Aplastic anemia, Myelodysplasia, Acute lympho... |
ORPHA:486 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro... |
OMIM:610333 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly |
OMIM:613561 |
| Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
| Gaucher Disease, Type Iii |
|
Ataxia, Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
| Isolated Agammaglobulinemia |
|
Abnormality of the lymphatic system, Abnormal lymphocyte morphology, Abnormality of the tonsils, ... |
ORPHA:229717 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Anemia of inadequate production, Macrocytic anemia, Jaundice, Congenital hypoplastic anemia |
OMIM:105600 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
| Shwachman-Diamond Syndrome 1 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Persistence of hemoglobin F, Pancytopenia, Myelo... |
OMIM:260400 |
| Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Anemia, Neutropenia |
OMIM:614900 |
| Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphoma, Anemia, Lymphadenopathy |
ORPHA:37748 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Reduced number of intrahepatic bile ducts, Lethargy, Neutropenia |
ORPHA:79284 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Thrombocytopenia |
OMIM:614946 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Non-Hodgkin lymphoma, Basal cell carci... |
ORPHA:3261 |
| Diamond-Blackfan Anemia 10 |
|
Steroid-responsive anemia, Anemia, Reticulocytopenia, Macrocytic anemia |
OMIM:613309 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hodgkin lymphoma, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thromb... |
OMIM:619375 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:124900 |
| Tufted Angioma |
|
Facial hemangioma, Hemangioma of the lip, Anemia, Thrombocytopenia, Neoplasm of the skin |
ORPHA:1063 |
| Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis, Microcytic anemia |
ORPHA:79278 |
| Thymoma |
|
Neoplasm, Aplastic anemia, Non-Hodgkin lymphoma, Neoplasm of the gastrointestinal tract, Neoplasm... |
ORPHA:99867 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Lymphadenopathy, Abnormal lymphocyte mor... |
ORPHA:100026 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis |
OMIM:235400 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
| Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Bradykinesia, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Polycythemia, Dysdiadochokinesi... |
ORPHA:309854 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Burkitt lymphoma, Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepat... |
OMIM:308240 |
| Wilson Disease |
|
Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Hepatic steatosis,... |
ORPHA:905 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
| Waldenström Macroglobulinemia |
|
Ataxia, Hepatomegaly, Splenomegaly, Normocytic anemia, Lymphoma, Abnormality of neutrophils, Mono... |
ORPHA:33226 |
| Specific Granule Deficiency 2 |
|
Myelodysplasia, Neutropenia, Anemia, Thrombocytopenia, Absent neutrophil specific granules |
OMIM:617475 |
| Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
| Fanconi Anemia, Complementation Group V |
|
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Hemangioma, Thrombocytopenia |
OMIM:141000 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Choreoathetosis, Microcytic anemia, Hypochromic anemia |
OMIM:618451 |
| Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:231900 |
| Blue Rubber Bleb Nevus |
|
Microcytic anemia, Cavernous hemangioma, Visceral angiomatosis |
ORPHA:1059 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Macrophage Activation Syndrome |
|
Decreased liver function, Hepatomegaly, Hemophagocytosis, Splenomegaly, Elevated circulating aspa... |
ORPHA:158061 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Lymphopenia |
OMIM:616744 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ... |
OMIM:278000 |
| Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:603909 |
| Mantle Cell Lymphoma |
|
B-cell lymphoma, Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... |
ORPHA:64743 |
| Platelet Signal Processing Defect |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:614727 |
| Neonatal Lupus Erythematosus |
|
Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anemia, Hemolytic anemia, Elev... |
ORPHA:398124 |
| Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities |
|
Hemolytic anemia, Hepatosplenomegaly, Ascites |
OMIM:600461 |
| Celiac Disease, Susceptibility To, 1 |
|
Ataxia, Lymphoma, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Elevated hepatic tra... |
OMIM:212750 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Jaundice |
ORPHA:290 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia |
ORPHA:158029 |
| Fanconi Anemia, Complementation Group E |
|
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia |
OMIM:600901 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Meningioma, Nephroblastoma |
OMIM:602501 |
| Fumarase Deficiency |
|
Polycythemia, Cutaneous leiomyoma, Cholestasis, Hepatic failure |
OMIM:606812 |
| Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... |
ORPHA:231214 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Lymphoproliferative disorder, Chronic lymphatic leukemia, Autoimmune hemolytic anem... |
ORPHA:90033 |
| Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia |
OMIM:246470 |
| Storage Pool Platelet Disease |
|
Myelodysplasia, Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
| Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Bone marrow hy... |
OMIM:301078 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Abnormality of thrombocytes, Anemia, Asplenia |
ORPHA:3204 |
| Fechtner syndrome |
|
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets |
OMIM:153640 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
| Autoinflammation With Infantile Enterocolitis |
|
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural killer cell count |
OMIM:616050 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
| Immunodeficiency 84 |
|
B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid ce... |
ORPHA:227990 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
| Thyrocerebrorenal Syndrome |
|
Nonprogressive cerebellar ataxia, Thrombocytopenia |
ORPHA:3327 |
| Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
| Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... |
ORPHA:86843 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Pure red cell aplasia |
OMIM:618165 |
| Fanconi Anemia, Complementation Group A |
|
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia |
OMIM:227650 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Myeloproliferative disorder, Difficulty walking, Abnormal erythrocyte enzyme level |
ORPHA:100924 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Polycythemia, Papillary cystadenoma of the epididymis... |
OMIM:193300 |
| Reticular Dysgenesis |
|
Abnormality of neutrophils, Anemia, Leukopenia, Aplasia/Hypoplasia of the thymus |
ORPHA:33355 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:88 |
| Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Abnormality of the lymphatic system,... |
ORPHA:54251 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Ataxia, Inability to walk, Hepatomegaly, Splenomegaly, Hemolytic anemia, Jaundice |
OMIM:608885 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Hodgkin lymphoma, B-cell lymphoma, Splenomegaly, Lymphoproliferative disorder, Autoimmune thrombo... |
OMIM:300853 |
| Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
| Late-Onset Isolated Acth Deficiency |
|
Pituitary adenoma, Eosinophilia, Normocytic anemia, Macrocytic anemia, Hepatitis, Lethargy |
ORPHA:199299 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Microcytic anemia, Hepatic steatosis |
OMIM:619013 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia |
OMIM:616959 |
| Sandifer Syndrome |
|
Anemia, Abnormal posturing |
ORPHA:71272 |
| Poems Syndrome |
|
Polycythemia, Hemangioma, Lymphoproliferative disorder, Thrombocytosis, Visceromegaly, Ascites, L... |
ORPHA:2905 |
| Barth Syndrome |
|
Abnormality of neutrophils |
ORPHA:111 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice |
OMIM:246400 |
| Livedoid Vasculopathy |
|
Polycythemia, Anemia, Leukocytosis, Pancytopenia |
ORPHA:542643 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
| Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:230450 |
| Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphoma, Neutropenia, Bone marrow hy... |
ORPHA:47612 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, Thrombocytopenia |
ORPHA:67048 |
| Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
| Tularemia |
|
Leukocytosis, Abnormal nasopharyngeal adenoid morphology, Anemia, Cervical lymphadenopathy, Brain... |
ORPHA:3392 |
| Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p... |
OMIM:301082 |
| Chediak-Higashi Syndrome |
|
Ataxia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impair... |
OMIM:214500 |
| Lig4 Syndrome |
|
Hepatomegaly, Leukocytosis, Lymphoma, Pancytopenia, Lymphadenopathy, Acute leukemia |
ORPHA:99812 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid ce... |
ORPHA:227982 |
| Hemochromatosis, Type 4 |
|
Cirrhosis, Anemia, Hepatic steatosis, Hepatomegaly |
OMIM:606069 |
| Cutaneous Neuroendocrine Carcinoma |
|
Multiple myeloma, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Lymphoid leukemia, Basa... |
ORPHA:79140 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:231095 |
| Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Lethargy |
OMIM:251110 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Ascites, Splenomegaly |
ORPHA:1046 |
| Griscelli Syndrome |
|
Ataxia, Hepatomegaly, Splenomegaly, Leukopenia, Abnormality of neutrophils, Hepatitis, Bone marro... |
ORPHA:381 |
| Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
| Immunodeficiency 36 |
|
B-cell lymphoma, Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphati... |
OMIM:616005 |
| Fanconi Anemia, Complementation Group C |
|
Thrombocytopenia, Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Leukemia, Retic... |
OMIM:227645 |
| Hepatocellular Carcinoma |
|
Neoplasm, Abnormality of the hepatic vasculature, Hepatomegaly, Hemobilia, Abnormality of the liv... |
ORPHA:88673 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Thrombocytopenia, Lethargy, Neutropenia |
OMIM:277400 |
| Ollier Disease |
|
Chondrosarcoma, Neoplasm, Lymphangioma, Hemangioma, Multiple enchondromatosis, Anemia, Sarcoma, V... |
ORPHA:296 |
| Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
| Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
| Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
| Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
| Gaucher Disease, Type I |
|
Multiple myeloma, Hepatomegaly, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:230800 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Ataxia, Splenomegaly, Spontaneous hemolytic cris... |
OMIM:613470 |
| Wolman Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Anemia, Bone-marrow foam cells, Ascites |
ORPHA:75233 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Lym... |
OMIM:615559 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Abnormality of the hepatic vasculature, Hepatosplenomegaly, Nodular regenerative hyperplasia of l... |
ORPHA:210136 |
| Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Myelodysplasia, Thrombocytosis, Acute myeloid leukemia |
ORPHA:71493 |
| Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
| Hemochromatosis, Type 3 |
|
Lymphopenia, Cirrhosis, Elevated hepatic transaminase, Neutropenia, Anemia |
OMIM:604250 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Neutropen... |
OMIM:304790 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma, Hepatosplenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:619750 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Ataxia, Neutropenia, Hepatomegaly, Abnormal T cell subset distribution, Hemophagocytosis, Splenom... |
ORPHA:158048 |
| Fanconi Anemia, Complementation Group D1 |
|
Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias, Acute myeloid leukemia |
OMIM:605724 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Verrucae, Lymphopenia, Neutropenia |
OMIM:614868 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Leukopenia, Thrombocytopenia |
OMIM:152700 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Anemia |
ORPHA:79402 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Lymphadenopa... |
ORPHA:79456 |
| Myh9-Related Disease |
|
Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platelet volume, Elevate... |
ORPHA:182050 |
| Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Lethargy |
OMIM:243500 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Transaldolase Deficiency |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp... |
OMIM:606003 |
| Stormorken Syndrome |
|
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies |
OMIM:185070 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
| 3-Methylglutaconic Aciduria, Type V |
|
Normochromic microcytic anemia, Nonprogressive cerebellar ataxia, Microvesicular hepatic steatosis |
OMIM:610198 |
| Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Lethargy |
OMIM:251100 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... |
OMIM:231200 |
| Immunodeficiency 64 |
|
B-cell lymphoma, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, ... |
OMIM:618534 |
| Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Anemia, Cardiomegaly |
OMIM:618886 |
| Familial Isolated Dilated Cardiomyopathy |
|
Abnormality of neutrophils |
ORPHA:154 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia, Gait ataxia |
OMIM:254900 |
| Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
| 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 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
| Chronic Intestinal Pseudoobstruction |
|
Abnormal platelet morphology |
ORPHA:2978 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia |
ORPHA:2598 |
| Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Anemia, Neutropenia |
OMIM:618067 |
| Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Choreoathetosis |
OMIM:300322 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Thyrocerebroretinal Syndrome |
|
Ataxia, Thrombocytopenia |
OMIM:274240 |
| Srd5A3-Cdg |
|
Elevated hepatic transaminase, Ataxia, Microcytic anemia |
ORPHA:324737 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Sweet Syndrome |
|
Neoplasm, Neutrophilia, Leukocytosis, Breast carcinoma, Sterile abscess, Hematological neoplasm, ... |
ORPHA:3243 |
| Coach Syndrome 3 |
|
Portal fibrosis, Anemia, Ataxia |
OMIM:619113 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Potocki-Shaffer Syndrome |
|
Anemia, Nephroblastoma, Exostoses |
ORPHA:52022 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:259710 |
| Propionic Acidemia |
|
Pancreatitis, Hepatomegaly, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Lethargy |
OMIM:606054 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Castleman Disease |
|
Decreased mean corpuscular volume, Follicular hyperplasia, Mediastinal lymphadenopathy, Generaliz... |
ORPHA:160 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
| Acatalasemia |
|
Microcytic anemia, Neoplasm of the larynx |
ORPHA:926 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Pancreatitis, Leukocytosis, Peritonitis, Schistocytosis, Microangiopathic hemolytic anemia, Retic... |
ORPHA:90038 |
| Relapsing Fever |
|
Neutrophilia, Leukocytosis, Leukopenia, Elevated hepatic transaminase, Anemia, Thrombocytopenia, ... |
ORPHA:91547 |
| Abetalipoproteinemia |
|
Broad-based gait, Ataxia, Hepatomegaly, Dysmetria, Cirrhosis, Reticulocytosis, Acanthocytosis, El... |
ORPHA:14 |
| Chilblain Lupus |
|
Chronic myelomonocytic leukemia |
ORPHA:90280 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Athetosis |
ORPHA:621 |
| Cold Agglutinin Disease |
|
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
| Diamond-Blackfan Anemia 20 |
|
Anemia, Erythroid hypoplasia |
OMIM:618313 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Neoplasm of the central nervous system,... |
ORPHA:83469 |
| Immunodeficiency 76 |
|
B-cell lymphoma, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
