| Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor, Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia |
OMIM:618310 |
| Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Reticulocytosis, Splenomegaly |
OMIM:179700 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Anemia of inadequate production, Hyperbilirubinemia, Erythroid hyperplasia, Sple... |
OMIM:237800 |
| Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Anemia, Hydrops fetalis, Polyhydramnios, Splenomegaly, Congestive heart fail... |
ORPHA:163596 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Pallor |
ORPHA:517 |
| Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblasti... |
OMIM:601775 |
| Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Absent ankle pulse, Abnormality of venous physiology, Supraventricular tachycardia,... |
ORPHA:90064 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Pallor, Splenomegaly, Hemolytic anemia |
ORPHA:228312 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Malaria |
|
Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia |
ORPHA:673 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
| Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Splenomegaly, Conjugated hyperbiliru... |
OMIM:620010 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... |
ORPHA:766 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Increased t... |
OMIM:619868 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Reticulocytosis, Anemia, Anemia of inadequate production, Pallor, Erythroid hyperpl... |
OMIM:615631 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... |
OMIM:202700 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... |
ORPHA:75564 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor, Anemia of inadequate production, Macrocytic anemia, Sideroblastic anemia, Hypochro... |
OMIM:300751 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Neutropenia, Acute myeloid leukemia |
OMIM:607847 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate... |
OMIM:301083 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased circulating ferritin ... |
OMIM:603552 |
| Rotor Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:3111 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Hypertension, Edema |
OMIM:189800 |
| Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
| X-Linked Sideroblastic Anemia |
|
Pallor, Splenomegaly, Anemia |
ORPHA:75563 |
| Spherocytosis, Type 4 |
|
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly |
OMIM:612653 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Acute lymphoblastic leukemia, Neutropenia, Reduced ... |
ORPHA:158057 |
| Trimethylaminuria |
|
Neutropenia, Splenomegaly, Anemia |
OMIM:602079 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
| Evans Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Syncope, Autoi... |
ORPHA:1959 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Megaloblastic anemia, Thrombocytopenia, Congestive heart failure, Paroxysmal atri... |
ORPHA:49827 |
| Hemochromatosis, Type 3 |
|
Elevated transferrin saturation, Anemia, Lymphopenia, Increased serum iron, Increased circulating... |
OMIM:604250 |
| Spherocytosis, Type 2 |
|
Reticulocytosis, Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Spherocytosis, Splenomegaly |
OMIM:616649 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... |
OMIM:616689 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia, Reticulocytosis, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Pancytopenia, Lymphocytosis, Monocytosis... |
OMIM:614470 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia, Pallor, Thrombocytopenia, Hypertrophic cardiomyop... |
ORPHA:848 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia |
OMIM:619523 |
| Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia, Anemia |
OMIM:617243 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Nonimmune hydrops fetalis, Reticulocytosis, Decreased hem... |
OMIM:266200 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... |
OMIM:616000 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... |
OMIM:619041 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
OMIM:615285 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Spherocytosis, Type 1 |
|
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly |
OMIM:182900 |
| Immunodeficiency 53 |
|
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:617585 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Arrhythmia, Splenomegaly, Congestive heart failure, Abnormal leukocyte morpholo... |
ORPHA:98375 |
| Immunodeficiency 21 |
|
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... |
OMIM:614172 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Conjuga... |
OMIM:616860 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Decreased mean corpuscular volume, Hypochromia, Pallor, Poikilocytosis, Splenomegaly |
OMIM:615234 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Absent circulating B cells, Neutropenia, Abnormal T cell morphology |
OMIM:613501 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased mean corpuscular volume, Melena,... |
ORPHA:98870 |
| Elliptocytosis 1 |
|
Pallor, Elliptocytosis, Splenomegaly, Hemolytic anemia |
OMIM:611804 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Reticulocytosis, Normocytic anemia, Hyperbilirubinemia, Normochromic anemia, Nonspherocytic hemol... |
OMIM:235700 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased serum bile acid concentration, Hyperbilirubinemia, Iron deficiency anemia, Increased to... |
OMIM:616278 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Aplastic anemia, Hemophagocytosis, Thrombocytopenia, Pancytopenia, Lymphocytosis... |
OMIM:308240 |
| Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia, Hypoalbuminemia |
OMIM:615008 |
| Primary Myelofibrosis |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Ecchymosis, Purpura, Pall... |
ORPHA:824 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Tachycardia, Pallor |
ORPHA:90037 |
| Specific Granule Deficiency 1 |
|
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... |
OMIM:245480 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Eosinophilia, Thrombocytopenia, Monocytopenia, Neutrophilia, Sp... |
OMIM:226990 |
| Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia |
OMIM:268150 |
| Transcobalamin Deficiency |
|
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
| Sickle Cell Anemia |
|
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Anisocytosis, Heinz bodies, Leukocytosis, Reticulocytosis, Un... |
OMIM:300908 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Harderoporphyria |
|
Reticulocytosis, Hemolytic anemia, Increased circulating ferritin concentration, Neonatal hyperbi... |
OMIM:618892 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Pallor, Hypertrophic cardiomyopathy |
OMIM:613561 |
| Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Thrombocytopenia, Normochr... |
ORPHA:98826 |
| Mastocytosis, Cutaneous |
|
Telangiectasia macularis eruptiva perstans, Cutaneous mastocytosis, Erythema, Edema |
OMIM:154800 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Leishmaniasis |
|
Abnormal macrophage morphology, Leukopenia, Anemia, Pallor, Thrombocytopenia, Pancytopenia, Splen... |
ORPHA:507 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Myeloproliferative disorder, Leukocytosis, Intracranial hemorrhage, Pallor, Thrombocytopenia, Lym... |
ORPHA:3226 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Refractory Anemia With Excess Blasts |
|
Retinal hemorrhage, Leukocytosis, Abnormal mean corpuscular volume, Palpitations, Anemic pallor, ... |
ORPHA:86839 |
| Imerslund-Gräsbeck Syndrome |
|
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... |
ORPHA:35858 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, A... |
OMIM:613673 |
| Ataxia-Pancytopenia Syndrome |
|
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... |
OMIM:159550 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly... |
ORPHA:3202 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypermethioninemia, Hypoalbuminemia |
OMIM:613752 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
| Congenital Factor X Deficiency |
|
Subarachnoid hemorrhage, Prolonged prothrombin time, Gingival bleeding, Antepartum hemorrhage, Pr... |
ORPHA:328 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... |
OMIM:605814 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Lung abscess, Decreased circulating beta-2-microglobulin level, Reduced natural ... |
OMIM:241600 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Thrombocytopenia, Pancytopenia, Elevated circulating C... |
OMIM:616050 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular volume, Pallor |
OMIM:611590 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:229050 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
OMIM:615863 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia, Hiatus hernia, Hernia |
ORPHA:101009 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Neutropenia, Hyperuricemia, Anemia |
OMIM:617056 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Anemia, Hypertriglyceridemia, Abnormal natural killer cell count, Thrombocytope... |
ORPHA:158061 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis, Anemia, H... |
OMIM:267700 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Anemic pallor, Edema, Anemia |
ORPHA:329971 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Splenomegaly, Abnormal CD... |
OMIM:150550 |
| Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Thrombocytosis, Splenomegaly, Hypoalbumi... |
OMIM:209950 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:214900 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... |
ORPHA:247598 |
| Polycythemia Vera |
|
Leukocytosis, Cerebral hemorrhage, Increased red blood cell mass, Splenomegaly, Thrombocytopenia,... |
OMIM:263300 |
| Immunodeficiency 46 |
|
Neutropenia, Intermittent thrombocytopenia, Anemia |
OMIM:616740 |
| Relapsing Fever |
|
Leukocytosis, Leukopenia, Anemia, Increased total bilirubin, Thrombocytopenia, Elevated circulati... |
ORPHA:91547 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin concentratio... |
ORPHA:822 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Pallor |
OMIM:613839 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Anemia of inadequate production, Hyp... |
OMIM:224120 |
| Slc35A1-Cdg |
|
Abnormal platelet granules, Giant platelets, Thrombocytopenia, Cellulitis, Neutropenia |
ORPHA:238459 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Edema, Anemia, Hydrops fetalis, Telangiectasia, Thrombocytopenia, Premature s... |
ORPHA:101028 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
| Hereditary Elliptocytosis |
|
Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Hyperbilirubi... |
ORPHA:288 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Methylmalonic acidemia, Thrombocytopenia, Normochromic anemia, Elevated circulat... |
OMIM:614857 |
| Overhydrated Hereditary Stomatocytosis |
|
Reticulocytosis, Hemolytic anemia, Increased mean corpuscular volume, Hyperbilirubinemia, Stomato... |
OMIM:185000 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Hepatosplenomegaly, Leukopenia, Lymphopenia, Impaired neutrophil chemotaxis, T lymphocytopenia, B... |
OMIM:618986 |
| American Trypanosomiasis |
|
Myocarditis, Edema, Arrhythmia, Cardiomyopathy, Periorbital edema, Splenomegaly, Congestive heart... |
ORPHA:3386 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Wolcott-Rallison Syndrome |
|
Hyperammonemia, Hyperbilirubinemia, Lymphocytosis, Hypoalbuminemia, Iron deficiency anemia, Hypon... |
ORPHA:1667 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, ... |
ORPHA:90033 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Absent circulating B cells, Transient neutropenia |
OMIM:619707 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia, Neutropenia |
OMIM:612527 |
| Wells Syndrome |
|
Vasculitis, Skin vesicle, Edema, Eosinophilia |
ORPHA:901 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Reticulocytosis, Hyperbilirubinemia, Hemolytic anemia |
ORPHA:713 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration,... |
OMIM:194380 |
| Biliary Atresia, Extrahepatic |
|
Hyperbilirubinemia, Unconjugated hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... |
ORPHA:169154 |
| Cold Agglutinin Disease |
|
Pallor, Splenomegaly, Hemolytic anemia |
ORPHA:56425 |
| Glycogen Storage Disease Vii |
|
Reticulocytosis, Hyperuricemia, Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate conc... |
OMIM:232800 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Anisopoikilocytosis, Anemia, Decreased mean corpuscular volume, Reticulocytop... |
ORPHA:300298 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Elliptocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis, Pallor |
OMIM:616959 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Pulmonary arterial hypertension, Leukocytosis, High-output congestive heart f... |
ORPHA:231222 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Neutropenia, Hyperammonemia, Anemia |
ORPHA:289916 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Increased serum bile acid concentration, Conjugated hyperbilirubinemia |
OMIM:243300 |
| Rh Deficiency Syndrome |
|
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, H... |
ORPHA:71275 |
| Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:269920 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Anemia, Thrombocytopenia, Pallor, Neutropenia |
OMIM:246400 |
| Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hyperbilirubinemia, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypoalbumi... |
ORPHA:64743 |
| Waldenström Macroglobulinemia |
|
Vasculitis, Normocytic anemia, Abnormality of neutrophils, Leukemia, Periorbital edema, Purpura, ... |
ORPHA:33226 |
| Chylomicron Retention Disease |
|
Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypoalbuminemia |
OMIM:246700 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor, Tachycardia |
ORPHA:90036 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
| Lipoyltransferase 1 Deficiency |
|
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin |
OMIM:616299 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hyperkalemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Increased total bilirubin |
OMIM:618528 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:598500 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Hyperlipidemia, Pancytopenia, Splenomegaly, Neutropenia |
ORPHA:79477 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hyperammonemia, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:79312 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia, Erythroid hyper... |
OMIM:600462 |
| Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thrombocytopenia, Erythroid hypop... |
ORPHA:101096 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Leukemia, Acute lymphoblastic leukemia, Neutropenia, Lymphopenia, Eosinophilia, ... |
ORPHA:486 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia, Pallor |
ORPHA:90045 |
| Immune Thrombocytopenia |
|
Gingival bleeding, Bruising susceptibility, Cerebral hemorrhage, Purpura, Gastrointestinal hemorr... |
ORPHA:3002 |
| Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Hypoproteinemia, Leukopenia, Hemophagocytosis, Anemia, Hyponatremia, Increase... |
OMIM:603553 |
| Eosinophilic Gastroenteritis |
|
Leukocytosis, Anemia, Eosinophilia, Elevated circulating C-reactive protein concentration, Hypoal... |
ORPHA:2070 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis, Lipoatrophy |
ORPHA:79087 |
| Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... |
OMIM:619802 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Neutropenia |
ORPHA:2643 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia |
OMIM:616738 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hyperammonemia, Leukopenia, Methylmalonic acidemia, Thrombocytopenia, Hyperglycinemia, Neutropenia |
OMIM:251000 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... |
ORPHA:98849 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Diffuse alveolar hemorrhage, Iron deficiency anemia, Heart murmur, Pallor |
ORPHA:99931 |
| Dermatitis, Atopic |
|
Dry skin, Facial erythema, Pallor |
OMIM:603165 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Eleva... |
OMIM:614300 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Refractory Celiac Disease |
|
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, Mi... |
ORPHA:398063 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor, Hypertrophic cardiomyopathy |
OMIM:612989 |
| Myelofibrosis |
|
Purpura, Myeloproliferative disorder, Pallor, Splenomegaly |
OMIM:254450 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Leukopenia, Hyperammonemia, Anemia, Thrombocytopeni... |
ORPHA:292 |
| Tempi Syndrome |
|
Facial erythema, Polycythemia, Intracranial hemorrhage, Transudative pleural effusion, Telangiect... |
ORPHA:284227 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... |
ORPHA:231154 |
| Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin level, Umbilical hernia, Conjugated hyperbilirubinemia |
ORPHA:95715 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
ORPHA:572 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Erythrocytosis, Familial, 1 |
|
Increased hemoglobin, Cerebral hemorrhage, Increased red blood cell mass, Hypertension, Increased... |
OMIM:133100 |
| Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Anisocytosis, High-output congestive heart failure, Extramedullary hematopoie... |
ORPHA:231226 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Anemia, Facial edema, Pulmonary ... |
OMIM:617300 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Anemia, Amelogenesis imperfecta, Thrombocytopenia, Neutropenia |
OMIM:617475 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Thrombocytopen... |
OMIM:300835 |
| Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Umbilical hernia, Giant platel... |
OMIM:169400 |
| Methylmalonic Aciduria, Cblb Type |
|
Hyperammonemia, Methylmalonic acidemia, Anemia, Thrombocytopenia, Pancytopenia, Hyperglycinemia, ... |
OMIM:251110 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Absent circulating B cells, Decreased proportion of class-switched memory B cells, B lymphocytope... |
OMIM:619705 |
| Sepsis In Premature Infants |
|
Leukocytosis, Hypotension, Anemia, Edema, Purpura, Pallor, Thrombocytopenia, Petechiae, Bradycard... |
ORPHA:90051 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:235555 |
| Protoporphyria, Erythropoietic, 1 |
|
Erythema, Edema, Hemolytic anemia |
OMIM:177000 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Anemia, Hyperproteinemia, Hypertriglyceridemia, Abnormal natural killer cell co... |
ORPHA:158048 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Beta-Thalassemia Major |
|
Hepatosplenomegaly, Anisopoikilocytosis, High-output congestive heart failure, Extramedullary hem... |
ORPHA:231214 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia, Pallor |
ORPHA:276556 |
| Neurodevelopmental Disorder With Gait Disturbance, Dysmorphic Facies, And Behavioral Abnormalities, X-Linked |
|
Hyperbilirubinemia |
OMIM:301094 |
| Plummer-Vinson Syndrome |
|
Hypochromic microcytic anemia, Pallor, Iron deficiency anemia |
ORPHA:54028 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatosplenomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Autoimmu... |
ORPHA:331206 |
| Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
| Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... |
OMIM:301082 |
| Hypermanganesemia With Dystonia 1 |
|
Unconjugated hyperbilirubinemia, Increased total iron binding capacity, Polycythemia, Hypermangan... |
OMIM:613280 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia, Pallor |
ORPHA:276575 |
| Idiopathic Congenital Hypothyroidism |
|
Umbilical hernia, Neonatal hyperbilirubinemia |
ORPHA:95717 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia, Hypoalbuminemia |
OMIM:618805 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Fluctuating sp... |
OMIM:619220 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia, Pallor |
ORPHA:276580 |
| Lymphangiectasia, Intestinal |
|
Stillbirth, Pedal edema, Lymphopenia, Edema |
OMIM:152800 |
| Autosomal Erythropoietic Protoporphyria |
|
Erythema, Edema, Microcytic anemia |
ORPHA:79278 |
| Propionic Acidemia |
|
Hyperammonemia, Anemia, Thrombocytopenia, Pancytopenia, Hyperglycinemia, Neutropenia |
OMIM:606054 |
| Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529799 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hyperbilirubinemia, Abnormal serum bile acid concentration, Extramedullary hematopoiesis, Conjuga... |
ORPHA:79303 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Thrombocytopen... |
ORPHA:98850 |
| Pearson Marrow-Pancreas Syndrome |
|
Refractory sideroblastic anemia, Erythema, Dehydration, Anemia, Hydrops fetalis, Reticulocytopeni... |
OMIM:557000 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Lymphedema, Anemia |
OMIM:223350 |
| Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor |
ORPHA:276608 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Hypertension associated with pheochromocyto... |
ORPHA:94080 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia |
OMIM:615387 |
| Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess |
OMIM:607676 |
| Dermatitis Herpetiformis |
|
Erythema, Edema, Skin vesicle, Microcytic anemia |
ORPHA:1656 |
| Beta-Ketothiolase Deficiency |
|
Dehydration, Leukocytosis, Hypotension, Edema, Hypertension, Thrombocytosis, Pallor |
ORPHA:134 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly |
OMIM:222800 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Anemia, Thrombocytopenia, Hypocalcemia, Cellulitis, Neutro... |
ORPHA:47 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia |
OMIM:619013 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Lipodystrophy, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, H... |
ORPHA:86816 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatosplenomegaly, Hyperbilirubinemia |
ORPHA:79302 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, Agranulocytos... |
OMIM:301078 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Hypoalbuminemia, Increased circ... |
ORPHA:540 |
| Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Normocytic anemia, Anemia, Elevated circulating creatine kinase concen... |
OMIM:611881 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Syncope, Palpitations, Tachycardia, Pallor |
ORPHA:324575 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Hyperhomocystinemia, Pancytopenia, Hypometh... |
ORPHA:2169 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Anemia |
OMIM:246450 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced propo... |
ORPHA:90362 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lipodystrophy, Leukocytosis, Panniculitis, Elevated circulating C-reactive protein concentration,... |
OMIM:617099 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Megaloblastic anemia, Anemia, Methylmalonic acidemia, Cystathioninemia, Thrombocytopenia, Hyperho... |
OMIM:277380 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Idiopathic Aplastic Anemia |
|
Anemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia |
ORPHA:88 |
| Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:601859 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Th... |
OMIM:617021 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
| Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Dehydration, Leukocytosis, Leukopenia, Hypotension, Anemia, Edema, Dilated cardio... |
ORPHA:20 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... |
OMIM:608203 |
| Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Umbilical hernia, Neonatal hyperbilirubinemia |
ORPHA:95716 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hyperbilirubinemia, Thrombocytopenia, Splen... |
OMIM:251880 |
| Graft Versus Host Disease |
|
Hepatosplenomegaly, Lipodystrophy, Hemophagocytosis, Hyperbilirubinemia, Dupuytren contracture, F... |
ORPHA:39812 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Lymphopenia, Neutropenia, Cutaneous abscess, Reduced natural killer cell count |
OMIM:619752 |
| Methylmalonic Aciduria, Cbla Type |
|
Hyperammonemia, Methylmalonic acidemia, Anemia, Thrombocytopenia, Pancytopenia, Hyperglycinemia, ... |
OMIM:251100 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, Panniculitis, B lymphocytopenia, Neutropenia |
OMIM:301081 |
| Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Pallor |
OMIM:500007 |
| Cyclic Neutropenia |
|
Decreased eosinophil count, Lymphopenia, Thrombocytopenia, Perianal abscess, Cellulitis, Cyclic n... |
ORPHA:2686 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:601847 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:609820 |
| Developmental And Epileptic Encephalopathy 66 |
|
Neutropenia, Anemia |
OMIM:618067 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Camptodactyly, Anemia, Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbum... |
OMIM:608104 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hyperammonemia, Neutropenia |
OMIM:618253 |
| Ataxia-Oculomotor Apraxia 4 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Hypoalbuminemia |
OMIM:616267 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hyperbilirubinemia, Decreased serum bile acid concentration |
OMIM:214950 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis |
OMIM:619281 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystinemi... |
ORPHA:79284 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619685 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating alpha-fetoprotein concentration, Hyperammonemia, Conjugated hyperbilirubinemia |
OMIM:617049 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:211600 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypermethioninemia, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Hypoalbu... |
OMIM:617156 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
| Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia |
ORPHA:79320 |
| Felty Syndrome |
|
Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Cellulitis, Splenomegaly, Neutropenia |
ORPHA:47612 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
| Pgm3-Cdg |
|
Neutropenia in presence of anti-neutropil antibodies, Leukopenia, Hemolytic anemia, Decreased pro... |
ORPHA:443811 |
| Idiopathic Hypereosinophilic Syndrome |
|
Leukocytosis, Intracranial hemorrhage, Transient ischemic attack, Supraventricular arrhythmia, Ne... |
ORPHA:3260 |
| Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia |
OMIM:617575 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Hiatus hernia, Neonatal hyperbilirubinemia |
OMIM:609727 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:607765 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Umbilical hernia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614520 |
| Congenital Fibrinogen Deficiency |
|
Prolonged prothrombin time, Gingival bleeding, Abnormal umbilical stump bleeding, Bruising suscep... |
ORPHA:335 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Autoimmune thrombocytopenia, Neutropenia, Eosinophilia, Thrombocytopenia, Coombs-positive... |
OMIM:304790 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hyperbilirubinemia, Throm... |
OMIM:259720 |
| Necrotizing Enterocolitis |
|
Thrombocytopenia, Leukocytosis, Hyponatremia, Neutropenia |
ORPHA:391673 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... |
OMIM:619662 |
| Avian Influenza |
|
Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, El... |
ORPHA:454836 |
| Acquired Purpura Fulminans |
|
Prolonged prothrombin time, Intracranial hemorrhage, Thrombocytopenia, Macular purpura, Shock, In... |
ORPHA:49566 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
| Cystic Echinococcosis |
|
Abscess, Eosinophilia, Hyperbilirubinemia, Peritoneal abscess, Splenic cyst |
ORPHA:400 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Thrombocytopenia, Hypoalbuminemia, Flexion contracture, Splenomegaly, Neutrop... |
OMIM:617303 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Hemolytic anemia, Anemia, Thrombocytopenia, Pancytopenia, Splenomegaly, Neutropenia |
ORPHA:398124 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia |
OMIM:208920 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Anemia, Thrombocytosis, Iron deficiency anemia, Hypoalbuminemia |
OMIM:226300 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Neutropenia, Anemia |
OMIM:619835 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor, Cerebral edema |
ORPHA:439218 |
| Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypouricemia, Hypergalactosemia, Hypokalemia, Increased serum bile acid concent... |
OMIM:227810 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Hypertension, Anemia, Internal hemorrhage |
ORPHA:69077 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:242150 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Elevated circulating creatine kinase concentration, Highly elevated creatine kinase, Microcytic a... |
OMIM:251900 |
| Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
| Diamond-Blackfan Anemia |
|
Nonimmune hydrops fetalis, Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutro... |
ORPHA:124 |
| Autosomal Agammaglobulinemia |
|
Cellulitis, Neutropenia |
ORPHA:33110 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... |
ORPHA:88618 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Aplastic anemia, Leukopenia, Anemia, Leukemia, Chronic neutropenia, Neutropeni... |
ORPHA:811 |
| Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
| Rheumatic Fever |
|
Myocarditis, Erythema, Arrhythmia, Epistaxis, Pericarditis, Pallor |
ORPHA:3099 |
| Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
| Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoproteinemia, Hypoalbuminemia |
OMIM:256300 |
| Acute Promyelocytic Leukemia |
|
Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Pancytopenia, Neutropenia |
ORPHA:520 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Elevated circulating ... |
ORPHA:64753 |
| Von Hippel-Lindau Disease |
|
Myocarditis, Polycythemia, Arrhythmia, Cardiomyopathy, Palpitations, Hypertension, Abnormal left ... |
ORPHA:892 |
| Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Macrothrombocytopenia, Bruising susceptibility, Absence of alpha granules, Ecchymosis, Increased ... |
OMIM:187900 |
| Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Anemia, Lymphopenia, Hyperlipidemia, Thrombocytopenia,... |
ORPHA:1830 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Leukocytosis, Liver abscess, Anemia, Hypoalbuminemia |
ORPHA:67 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Panniculitis, Thrombocytopenia, B lymphocytop... |
ORPHA:508542 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:603909 |
| Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Abscess, Elevated circulating creatine kinase concentratio... |
ORPHA:36234 |
| Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia |
OMIM:619075 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration |
OMIM:614886 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Leukemia, Anemic pallor, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia |
OMIM:600901 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ion concentration, Autoimmun... |
ORPHA:37042 |
| Chediak-Higashi Syndrome |
|
Giant neutrophil granules, Leukopenia, Hemophagocytosis, Anemia, Impaired neutrophil bactericidal... |
OMIM:214500 |
| Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Hepatosplenomegaly, Hypoproteinemia, Hemophagocytosis, Anemia, Hyponatrem... |
ORPHA:167 |
| Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Cellulitis, Reduction of neutrophil motility |
OMIM:266265 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:613812 |
| Klippel-Trénaunay Syndrome |
|
Pulmonary embolism, Microcytic anemia, Gastrointestinal hemorrhage, Congestive heart failure, Int... |
ORPHA:90308 |
| Barth Syndrome |
|
Hypochromic microcytic anemia, Cyclic neutropenia, Granulocytopenia, Neutropenia |
OMIM:302060 |
| Abetalipoproteinemia |
|
Reticulocytosis, Anemia, Decreased LDL cholesterol concentration, Acanthocytosis, Hyperbilirubine... |
ORPHA:14 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Megaloblastic anemia, Cystathioninemia, Thrombocytopenia, Hyperhomocystin... |
OMIM:277400 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Arthrogryposis multiplex congenita, Thrombocytopenia, Conjugated hyperbilirubinemia |
OMIM:208085 |
| Caroli Syndrome |
|
Leukocytosis, Liver abscess, Leukopenia, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Throm... |
ORPHA:480520 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Hypokalemia, Unconjugated hyper... |
ORPHA:90038 |
| Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Acute leukemia, Hemolytic anemia, Intracranial hemorrhage, Epistaxis, Vasculit... |
ORPHA:906 |
| Poikiloderma With Neutropenia |
|
Neutropenia, Leukopenia, Elevated circulating creatine kinase concentration, Splenomegaly |
OMIM:604173 |
| Wilson Disease |
|
Chondrocalcinosis, Hemolytic anemia, Anemia, Hypouricemia, Increased circulating copper concentra... |
OMIM:277900 |
| Hepatocellular Carcinoma |
|
Liver abscess, Polycythemia, Anemia, Hypokalemia, Hyperbilirubinemia, Thrombocytopenia, Thrombocy... |
ORPHA:88673 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatosplenomegaly, Hypoplasia of the thymus, Inguinal hernia, Intermittent thrombocytopenia, Leu... |
OMIM:612541 |
| Citrullinemia Type Ii |
|
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperlip... |
ORPHA:247585 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Leukemia, Anemic pallor, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia |
OMIM:227650 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hyperammonemia, Decreased plasma free carnitine, Knee flexion contracture, Elevated circulating l... |
OMIM:608836 |
| Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia |
OMIM:616395 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia, Hypoalbuminemia |
OMIM:617093 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Anemia, Elevated circulating C-reactive protein concentration, Neutrophilia, Brain... |
ORPHA:54251 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:542323 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Arthrogryposis multiplex congenita, Conjugated hyperbilirubinemia |
OMIM:613404 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
| Transcobalamin Ii Deficiency |
|
Reticulocytopenia, Macrocytic anemia, Erythroid hypoplasia, Pancytopenia, Neutropenia |
OMIM:275350 |
| Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Neutropenia |
OMIM:614900 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Leukocytosis, Hemolytic anemia, Edema, Hypertension, Thrombocytopenia, Pleural empye... |
ORPHA:544482 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine concentration... |
OMIM:613179 |
| Schimke Immunoosseous Dysplasia |
|
Anemia, Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia, Abnormal T cell morphology |
OMIM:242900 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Anemia, Persistence of hemoglobin F, Neutropenia, Amelogenesis imperfecta, Ename... |
OMIM:617052 |
| Fumarase Deficiency |
|
Polyhydramnios, Pallor, Polycythemia, Ascites |
OMIM:606812 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
