Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia |
OMIM:615909 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration |
OMIM:618015 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... |
OMIM:300751 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... |
OMIM:616860 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Abnormality of iron homeostasis, Anemia |
ORPHA:75563 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hydrops fetalis, Anemia, Intrauterine growth retardation, Hypertro... |
ORPHA:295 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:613313 |
Atransferrinemia |
|
Hypochromic anemia, Atransferrinemia |
OMIM:209300 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia |
OMIM:237800 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia |
ORPHA:294 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,... |
ORPHA:300298 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Microcytic anemia |
OMIM:618852 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Abnormalit... |
ORPHA:848 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Anemia |
OMIM:236750 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m... |
ORPHA:98870 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrocephalus, Hydrops fetalis, ... |
ORPHA:163596 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia |
OMIM:604416 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Hypochromic microcytic anemia |
OMIM:301310 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial effusion, Fetal p... |
OMIM:619462 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr... |
OMIM:606069 |
Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... |
OMIM:212050 |
Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... |
OMIM:231100 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly |
OMIM:312500 |
Protoporphyria, Erythropoietic, X-Linked |
|
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration |
OMIM:300752 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia |
OMIM:618811 |
Blue Rubber Bleb Nevus |
|
Microcytic anemia |
ORPHA:1059 |
Autosomal Erythropoietic Protoporphyria |
|
Microcytic anemia |
ORPHA:79278 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho... |
OMIM:603358 |
Glutamate Formiminotransferase Deficiency |
|
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia |
OMIM:229100 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Diffuse Neonatal Hemangiomatosis |
|
Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Anemia, Ascites, Thro... |
ORPHA:2123 |
Congenital Heart Block |
|
Cyanosis, Premature birth, Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Perip... |
ORPHA:60041 |
Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
Congenital Atransferrinemia |
|
Anemia |
ORPHA:1195 |
Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ... |
ORPHA:446 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated transferrin saturation, Incr... |
ORPHA:79230 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Hepatosplenomegaly, Anemia, Biventricular hypertrophy, Atrial septal defe... |
ORPHA:101028 |
Aceruloplasminemia |
|
Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration, Anemia |
OMIM:604290 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Normochromic anemia |
OMIM:245900 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Hypochromic anemia, Microcytic anemia |
OMIM:618451 |
Nuchal Bleb, Familial |
|
Stillbirth, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep... |
ORPHA:101330 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia |
OMIM:618805 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Microcytic anemia |
OMIM:618972 |
Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration, Anemia |
OMIM:121270 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc... |
OMIM:614946 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Dermatitis Herpetiformis |
|
Microcytic anemia |
ORPHA:1656 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Acute Erythroid Leukemia |
|
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia |
ORPHA:318 |
Acatalasemia |
|
Microcytic anemia |
ORPHA:926 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... |
OMIM:235700 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hypochromic anemia, Erythroid hyper... |
OMIM:600462 |
Aceruloplasminemia |
|
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... |
ORPHA:48818 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Nonimmune hydrops fetalis, ... |
OMIM:617021 |
Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells |
OMIM:256150 |
Familial Benign Copper Deficiency |
|
Decreased circulating copper concentration, Anemia |
ORPHA:1551 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
Congenital Pulmonary Lymphangiectasia |
|
Cyanosis, Splenomegaly, Hydrops fetalis, Chylopericardium, Growth delay, Pulmonic stenosis, Pleur... |
ORPHA:2414 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:230450 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Reduced red cell ... |
OMIM:266200 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... |
OMIM:602390 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal tri... |
ORPHA:3405 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Microcytic anemia |
OMIM:619013 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Decreased circulating ferritin concentration, Hypochromic microcytic anemia |
ORPHA:54028 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia |
OMIM:606893 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth, Umbilical hernia, Neonat... |
OMIM:600972 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Short stature, Hydrops fetalis, Polyhydramnios |
ORPHA:2204 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:613124 |
Congenital Enterovirus Infection |
|
Decreased fetal movement, Abnormal macrophage morphology, Premature birth, Polyhydramnios, Fetal ... |
ORPHA:292 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Diarrhea,... |
OMIM:618963 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia |
OMIM:105600 |
Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:612653 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... |
ORPHA:1909 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Nonimmune hydrops fetalis, Splenomegaly, Cardiomyopathy, Abnormality of the amniotic fluid, Intra... |
OMIM:608540 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Microcytic anemia |
OMIM:619750 |
Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... |
OMIM:618892 |
Sialidosis Type 2 |
|
Short stature, Splenomegaly, Hydrops fetalis, Pedal edema, Umbilical hernia, Ascites |
ORPHA:87876 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly, Intrauterine growth retardation, Anemia |
OMIM:618838 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis |
OMIM:616649 |
Niemann-Pick Disease, Type A |
|
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Microcytic anemia |
OMIM:257200 |
Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... |
OMIM:601775 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis |
OMIM:612126 |
Srd5A3-Cdg |
|
Microcytic anemia |
ORPHA:324737 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microcytic anemia |
OMIM:612379 |
Infantile Sialic Acid Storage Disease |
|
Premature birth, Cardiomegaly, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Hydrops fetal... |
OMIM:269920 |
Alg8-Cdg |
|
Premature birth, Edema, Hydrops fetalis, Cutis laxa, Anemia, Intrauterine growth retardation, Pre... |
ORPHA:79325 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia |
OMIM:618660 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Redundant neck skin, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Intrauterine grow... |
OMIM:619003 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
3-Methylglutaconic Aciduria, Type V |
|
Normochromic microcytic anemia |
OMIM:610198 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial effusion, Spl... |
OMIM:613011 |
Klippel-Trénaunay Syndrome |
|
Edema, Microcytic anemia, Patent ductus arteriosus, Hydrops fetalis, Abnormal tricuspid valve mor... |
ORPHA:90308 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Premature birth, Nonimmune hydrops fetalis, Neonatal death, Intrauterine growth retardation, Hype... |
OMIM:618835 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Intrauterine growth r... |
OMIM:618839 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Short stature, Megaloblastic anemia, Pallor, Atrial septal defect, Thr... |
ORPHA:49827 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Intrauterine growth retardation,... |
OMIM:614702 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia |
ORPHA:2494 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... |
OMIM:619313 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt... |
ORPHA:288 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Petechiae, Pericardial effusion, Anemia, Thrombocytopenia |
ORPHA:231111 |
Fetal Gaucher Disease |
|
Decreased fetal movement, Pancytopenia, Fetal akinesia sequence, Splenomegaly, Abnormality of the... |
ORPHA:85212 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration |
OMIM:619423 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Sideroblastic anemia, Hypertrophic cardiomyopathy, Pallor |
OMIM:613561 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia, Elevated circulating C-reactive protei... |
OMIM:619632 |
Infantile Liver Failure Syndrome 1 |
|
Macrocytic anemia, Anemia |
OMIM:615438 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Achondrogenesis |
|
Thickened nuchal skin fold, Severe short stature, Polyhydramnios, Hydrops fetalis, Umbilical hernia |
ORPHA:932 |
Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Hyperalaninemia, Hypochromic microcytic anemia, Anemia |
OMIM:619147 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Severe short stature, Polyhydramnios, Disproportionate short stature,... |
ORPHA:93298 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis |
OMIM:606445 |
Neuraminidase Deficiency |
|
Short stature, Bone-marrow foam cells, Cardiomegaly, Facial edema, Splenomegaly, Vacuolated lymph... |
OMIM:256550 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia |
ORPHA:3240 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Microcytic anemia |
OMIM:612073 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Megaloblastic anemia |
OMIM:236270 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Ataxia, Reticulocytosis |
OMIM:300653 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia |
OMIM:250940 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... |
OMIM:620014 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Mulibrey Nanism |
|
Short stature, Cardiomegaly, Myocardial fibrosis, Hydrops fetalis, Growth delay, Pericardial cons... |
OMIM:253250 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Chondrodysplasia, Blomstrand Type |
|
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth |
OMIM:215045 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia |
ORPHA:309108 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... |
OMIM:194380 |
Glycogen Storage Disease Iv |
|
Decreased fetal movement, Polyhydramnios, Edema, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopa... |
OMIM:232500 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Normochromic anemi... |
OMIM:618775 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Pericardial effusion, Anhydramnios |
OMIM:613885 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia |
ORPHA:27 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Severe short stature, Polyhydramnios, Hydrops fetalis, Umbilical hernia |
ORPHA:93299 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Hepatocellular carcinoma, Splenomegaly, In... |
ORPHA:465508 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Decreased serum iron, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatiti... |
OMIM:614602 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Splenomegaly, Anemia of inadequate production |
OMIM:612714 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, Megaloblastic anemia |
ORPHA:2575 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia |
OMIM:616084 |
Free Sialic Acid Storage Disease |
|
Splenomegaly, Ascites, Hydrops fetalis, Skin ulcer |
ORPHA:834 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Ascites, Hydrops fetalis, Pulmonic stenosis |
OMIM:619433 |
Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia |
ORPHA:90647 |
Congenital Disorder Of Glycosylation, Type Il |
|
Decreased fetal movement, Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septu... |
OMIM:608776 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia |
OMIM:249270 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hydrops fetalis, Fetal akinesia sequence |
OMIM:618815 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... |
OMIM:259720 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:235200 |
Majeed Syndrome |
|
Splenomegaly, Leukocytosis, Hypochromic microcytic anemia, Congenital hypoplastic anemia |
ORPHA:77297 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Growth delay, Ascites, Decreased proportion of CD3-positive T cells,... |
ORPHA:90362 |
Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Splenomegaly, Pericardial effusion, Pedal edema, Anemia, Leukopenia,... |
ORPHA:77259 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Neutropenia, Microcytic anemia |
OMIM:251900 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia |
OMIM:614514 |
Cantu Syndrome |
|
Bicuspid aortic valve, Lymphedema, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, ... |
OMIM:239850 |
Dilated Cardiomyopathy With Ataxia |
|
Normochromic microcytic anemia, Elevated circulating glutaric acid concentration, Hypochromic mic... |
ORPHA:66634 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Acute Interstitial Pneumonia |
|
Cyanosis, Pericardial effusion, Hypoxemia, Peripheral edema, Reduced hematocrit, Pleural effusion |
ORPHA:79126 |
Oslam Syndrome |
|
Anemia |
OMIM:165660 |
Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular ... |
OMIM:611590 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice... |
OMIM:222470 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:601859 |
Birk-Aharoni Syndrome |
|
Macrocytic anemia |
OMIM:620071 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Petechiae, Thrombocytopenia, Leukocytosis, Splenomega... |
ORPHA:824 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Craniofaciofrontodigital Syndrome |
|
Persistent fetal circulation, Premature birth, Bicuspid aortic valve, Polyhydramnios, Edema, Peri... |
ORPHA:363705 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
Barth Syndrome |
|
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia |
OMIM:302060 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
Lesch-Nyhan Syndrome |
|
Anemia |
ORPHA:510 |
Livedoid Vasculopathy |
|
Pancytopenia, Leukocytosis, Hyperhomocystinemia, Abnormal circulating lipid concentration, Polycy... |
ORPHA:542643 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia, Leukopenia, Pallo... |
ORPHA:507 |
Isolated Sedoheptulokinase Deficiency |
|
Hypochromic microcytic anemia, Anemia |
ORPHA:440713 |
Syndromic Diarrhea |
|
Hepatomegaly, Gastritis, Increased mean platelet volume, Splenomegaly, Bloody diarrhea, Abnormali... |
ORPHA:84064 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Pericarditis, Edema, Pericardial effusion, Dry skin, Hepatosplenomegaly, Left v... |
OMIM:619487 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Hemolytic Anemia, Congenital, X-Linked |
|
Hemolytic anemia |
OMIM:301015 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Microcytic anemia |
ORPHA:293967 |
Gaucher Disease, Perinatal Lethal |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... |
OMIM:608013 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Diarrhea, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thrombo... |
ORPHA:54057 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Premature birth, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return,... |
ORPHA:555874 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Hydrops fetali... |
OMIM:601927 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ... |
OMIM:232800 |
Boomerang Dysplasia |
|
Severe short-limb dwarfism, Hydrops fetalis, Polyhydramnios |
ORPHA:1263 |
Mednik Syndrome |
|
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... |
ORPHA:171851 |
Hereditary Methemoglobinemia |
|
Athetosis, Methemoglobinemia |
ORPHA:621 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Diarrhea, Increased serum zinc |
OMIM:601979 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Hypertrophic cardiomyop... |
OMIM:616897 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Abnormality of the liver... |
ORPHA:2169 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Microcytic anemia |
ORPHA:2959 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia |
OMIM:619046 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:1959 |
Gaucher Disease Type 3 |
|
Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ... |
ORPHA:77261 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor |
OMIM:611804 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Leukopenia, Vomiting, Lymphocytosis, Hypocalcemia, Elevat... |
OMIM:619991 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circu... |
OMIM:300972 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolifera... |
ORPHA:3226 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Ataxia, Reticulocytosis |
ORPHA:713 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Erythema, Reticulocytopenia, Hydrops fetali... |
OMIM:557000 |
Pediatric Systemic Lupus Erythematosus |
|
Edema, Pericardial effusion, Leukopenia, Ascites, Microangiopathic hemolytic anemia, Pleural effu... |
ORPHA:93552 |
Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Decreased fetal movement, Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ... |
OMIM:620070 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Decreased serum iron, Dysphagia, Decreased serum zin... |
ORPHA:89842 |
Hydatidiform Mole |
|
Anemia |
ORPHA:99927 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... |
OMIM:210250 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Decreased fetal movement, Hydrops fetalis, Polyhydramnios |
OMIM:255320 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Polyhydramnios, Spina bifida, Asplenia, Abnormal heart v... |
ORPHA:99776 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia |
OMIM:617101 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... |
OMIM:265300 |
Lymphatic Malformation 6 |
|
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Spl... |
OMIM:616843 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Stomatocytosis |
OMIM:268150 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:617395 |
Gm1-Gangliosidosis, Type I |
|
Severe short stature, Abnormal heart valve morphology, Splenomegaly, Vacuolated lymphocytes, Dila... |
OMIM:230500 |
Idiopathic Neonatal Atrial Flutter |
|
Hydrops fetalis, Fetal distress |
ORPHA:45452 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Constipation, Decreased serum iron |
ORPHA:391372 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Cog2-Cdg |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... |
ORPHA:435934 |
Hamamy Syndrome |
|
Hypochromic anemia, Microcytic anemia |
OMIM:611174 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor, Anemia, Edema |
ORPHA:329971 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia |
ORPHA:2668 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites |
ORPHA:69735 |
Poems Syndrome |
|
Edema, Pericardial effusion, Acrocyanosis, Thrombocytosis, Pleural effusion, Ascites, Polycythemia |
ORPHA:2905 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Trisomy 13 |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Atrial septal defect, Intra... |
ORPHA:3378 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Intrahepatic cholestasis, Hyperbilirubinemia, Hepatic failure, Polycyt... |
OMIM:606812 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c |
OMIM:618858 |
Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Pallor |
ORPHA:56425 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Decreased circulating 12-HETE, Abnormal circulating eicosanoid concentrat... |
OMIM:618372 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia |
OMIM:222300 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Granulocytopenia |
OMIM:606164 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
H Syndrome |
|
Hepatosplenomegaly, Histiocytosis, Microcytic anemia |
ORPHA:168569 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Cardiomegaly, Pericardial effusion, Breech presentation, Hydrocephalus, Increased myoca... |
OMIM:261740 |
Irida Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration |
ORPHA:209981 |
Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedema, Pleural effusion... |
ORPHA:36412 |
Von Hippel-Lindau Syndrome |
|
Polycythemia |
OMIM:193300 |
Sepsis In Premature Infants |
|
Cyanosis, Premature birth, Petechiae, Edema, Splenomegaly, Leukocytosis, Anemia, Pallor, Neutrope... |
ORPHA:90051 |
Trisomy 1Q |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Increased nuchal translucenc... |
ORPHA:261344 |
Achondrogenesis, Type Ii |
|
Polyhydramnios, Edema, Disproportionate short-trunk short stature, Hydrops fetalis, Stillbirth, D... |
OMIM:200610 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:266120 |
Leukocyte Adhesion Deficiency Type Ii |
|
Leukocytosis, Neutrophilia, Anemia, Microcytic anemia |
ORPHA:99843 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, Hydrops fetal... |
OMIM:617022 |
Mucopolysaccharidosis Type 7 |
|
Lymphedema, Splenomegaly, Hydrops fetalis, Umbilical hernia, Ascites |
ORPHA:584 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Mild postnata... |
OMIM:235510 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Ecchy... |
ORPHA:464329 |
Huppke-Brendel Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:614482 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c |
OMIM:609812 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ventricular septal defect, Nonimmune hydrops fetalis, Pure red cell aplas... |
ORPHA:124 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Nonimmune hydrops fetalis, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular sept... |
OMIM:618052 |
Q Fever |
|
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Myocarditis, E... |
ORPHA:781 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia |
ORPHA:79096 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c |
OMIM:610582 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Myopathy With Lactic Acidosis, Hereditary |
|
Anemia, Sideroblastic anemia, Leukopenia |
OMIM:255125 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Muscular ventricular septal defect, ... |
OMIM:115197 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Long Qt Syndrome 3 |
|
Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:603830 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thro... |
OMIM:127550 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Thrombocytopenia |
OMIM:231095 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor |
ORPHA:90037 |
Vexas Syndrome |
|
Macrocytic anemia, Thrombocytopenia |
OMIM:301054 |
Cyclic Vomiting Syndrome |
|
Growth delay, Cardiomyopathy, Pallor |
OMIM:500007 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Severe short stature, Hydrocephalus, Hydrops fetalis, Abnormal heart morphology, S... |
ORPHA:1865 |
Farber Disease |
|
Short stature, Hydrops fetalis, Hepatosplenomegaly, Anemia, Joint swelling, Ascites, Thrombocytop... |
ORPHA:333 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c |
OMIM:619278 |
American Trypanosomiasis |
|
Edema, Periorbital edema, Splenomegaly, Myocarditis, Cardiomyopathy, Pallor |
ORPHA:3386 |
Gm1 Gangliosidosis |
|
Premature birth, Ventricular septal defect, Short stature, Splenomegaly, Patent ductus arteriosus... |
ORPHA:354 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis |
OMIM:276822 |
Hereditary Hemorrhagic Telangiectasia |
|
Microcytic anemia |
ORPHA:774 |
Focal Segmental Glomerulosclerosis 1 |
|
Pleural effusion, Ascites, Anemia, Edema |
OMIM:603278 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Vomiti... |
OMIM:277900 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia |
OMIM:613309 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia sequence, Dilated cardiomyopathy, Hepat... |
ORPHA:367 |
Monosomy 22 |
|
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly |
ORPHA:96123 |
Lymphatic Malformation 1 |
|
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis |
OMIM:153100 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic anemia, Anemia |
OMIM:611881 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia |
OMIM:226300 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Cardiomyopathy, Abnormality... |
OMIM:212065 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ... |
ORPHA:101096 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased fetal movement, Edema, Patent ductus arteriosus, Anemia, Perimembranous ventricular sep... |
OMIM:608104 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pericardial effusion, Pedal edema, Hypoxemia, Pleural effusion, Pulmonary edema |
ORPHA:199241 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Pleural effusion, Hydrocephalus, Edema |
OMIM:617822 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Normochromic anemia, Chroni... |
OMIM:615512 |
Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Cardiomegaly, Pallor, Hepatosplenomegaly |
ORPHA:99931 |
Lymphatic Malformation 13 |
|
Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal peri... |
OMIM:620244 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, D... |
OMIM:235400 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Bone Marrow Failure Syndrome 4 |
|
Short stature, Rhizomelia, Anemia, Leukopenia, Dry skin, Thrombocytopenia |
OMIM:618116 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib... |
ORPHA:541423 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Edema, Pericardial effusion, Thrombocytopenia, Splen... |
ORPHA:167 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... |
ORPHA:79277 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Pallor, Neutropenia, Atrial septal defect, Intrauterine... |
OMIM:609053 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Increas... |
OMIM:274150 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Anemia |
OMIM:246450 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... |
ORPHA:1667 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Abnormality of neutrophils, Periorbital edema, Splenomegaly, Pedal edema, Pleu... |
ORPHA:33226 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration |
ORPHA:521411 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Left ventricular noncompaction cardiomyopathy, Nonimmune hydrops fetalis, Fetal pleural effusion,... |
OMIM:620167 |
Platyspondylic Dysplasia, Torrance Type |
|
Disproportionate short-limb short stature, Hydrops fetalis, Polyhydramnios |
ORPHA:85166 |
Mucopolysaccharidosis, Type Vii |
|
Severe short stature, Abnormal heart valve morphology, Short stature, Postnatal growth retardatio... |
OMIM:253220 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Edema, Pericardial effusion, Splenomegaly, Anemia, Intrauterine g... |
OMIM:615846 |
Schneckenbecken Dysplasia |
|
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Disproportionate short-limb short stature,... |
OMIM:269250 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Short stature, Anemia, Purpura |
ORPHA:3204 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Leukopenia, Vomiting, Hepatomegaly, Abnormal circulating... |
ORPHA:470 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Acute colitis, Leukocytosis, Schistocytosis, Elevated circulating ... |
ORPHA:90038 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Hydrocephalus, Dilated cardiomyopathy, Hydrops fetalis, Dehydration, Abnorm... |
ORPHA:79282 |
Somatostatinoma |
|
Hypercalcemia, Hypochromic microcytic anemia |
ORPHA:97283 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Premature birth, Ventricular septal defect, Tricuspid stenosis, Congenital hyp... |
OMIM:105650 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Iron deficiency anemia |
OMIM:607906 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Decreased serum zinc, Diarrhea, Hepatomegaly |
OMIM:201100 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy... |
ORPHA:811 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor, Chronic lymphatic leukemia |
ORPHA:90033 |
Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Galactosialidosis |
|
Severe short stature, Nonimmune hydrops fetalis, Hepatosplenomegaly |
OMIM:256540 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:242150 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Ventricular septal defect, Left atrial enlargement, Edema, Tricuspid stenosis, Valvular... |
OMIM:212093 |
Kearns-Sayre Syndrome |
|
Sideroblastic anemia |
OMIM:530000 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... |
OMIM:617093 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Hypochromic anemia |
ORPHA:2720 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Microvesicular hepatic steatosis, Cirrhosis, Elevated hepatic iron concentration |
OMIM:300868 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... |
OMIM:618885 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Erythema, Endocarditis, Abnormal aort... |
ORPHA:3099 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276556 |
Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Refractory anemia, Hypochromic anemia |
ORPHA:99147 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... |
OMIM:308240 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy |
OMIM:620089 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia |
ORPHA:98673 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276580 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Achondrogenesis, Type Ia |
|
Polyhydramnios, Increased nuchal translucency, Disproportionate short-trunk short stature, Hydrop... |
OMIM:200600 |
Greenberg Dysplasia |
|
Rhizomelia, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Inc... |
OMIM:215140 |
Ogden Syndrome |
|
Microvesicular hepatic steatosis, Jaundice, Diarrhea, Iron deficiency anemia, Vomiting, Macrovesi... |
OMIM:300855 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Hennekam Syndrome |
|
Mild postnatal growth retardation, Lymphedema, Pericardial effusion, Splenomegaly, Hydrops fetali... |
ORPHA:2136 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Dravet Syndrome |
|
Cyanotic episode, Pallor |
ORPHA:33069 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Patent duc... |
ORPHA:79329 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Edema, Leukocytosis, Dilated cardiomyopathy, Dehydration, Leukopenia, Pallor, Thrombocytosis, Anemia |
ORPHA:20 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Short stature, Hydrops fetalis |
OMIM:614091 |
Gm1 Gangliosidosis Type 1 |
|
Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, Abnormal placenta morphology, Intrauterine g... |
ORPHA:79255 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemic pallor, Short stature, Reticulocytopenia, Abnormal heart morphology, Anemia,... |
OMIM:600901 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Atrial septal defect, Occipital meni... |
OMIM:616546 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Splenomegaly, Thrombocytopenia, Anemia, Microcytic anemia |
OMIM:619525 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... |
OMIM:618280 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Nonimmune hydrops fetalis |
OMIM:618265 |
Gaucher Disease |
|
Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m... |
ORPHA:355 |
Cardiomyopathy, Dilated, 1A |
|
Pericardial effusion, Dilated cardiomyopathy |
OMIM:115200 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Growth delay, Cardiomyopathy, Hydrops fetalis |
ORPHA:88618 |
Beta-Ketothiolase Deficiency |
|
Edema, Leukocytosis, Dehydration, Pallor, Thrombocytosis |
ORPHA:134 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Hydrocephalus, Stillbirth, A... |
OMIM:617667 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Constipation, High nonceruloplasmin-bound serum copper, Thrombocytopenia |
ORPHA:457351 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Hypocalcemia |
OMIM:212750 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Postnatal growth retardation, Splenomegaly, Hydrops fetalis, Dehyd... |
ORPHA:699 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemic pallor, Short stature, Reticulocytopenia, Abnormal heart morphology, Anemia,... |
OMIM:227650 |
Osteogenesis Imperfecta, Type Ii |
|
Disproportionate short-limb short stature, Premature birth, Nonimmune hydrops fetalis |
OMIM:166210 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:277380 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo... |
ORPHA:37042 |
Fibrochondrogenesis 1 |
|
Rhizomelia, Stillbirth, Patent foramen ovale, Hydrops fetalis |
OMIM:228520 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa... |
ORPHA:26793 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Alg9-Cdg |
|
Thickened nuchal skin fold, Decreased fetal movement, Ventricular septal defect, Rhizomelia, Peri... |
ORPHA:79328 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Pleural effusion, Ascites, Nonimmune hydrops fetalis |
OMIM:617049 |
Von Hippel-Lindau Disease |
|
Polycythemia |
ORPHA:892 |
Campomelia, Cumming Type |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
ORPHA:1318 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Dermal translucency, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema |
OMIM:137940 |
Bazex Syndrome |
|
Scaling skin, Anemia, Edema |
ORPHA:166113 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Anemic pallor, Short stature, Reticulocytopenia, Anemia,... |
OMIM:227645 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Ventricular septal defect, Lymphe... |
OMIM:153400 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Dilated cardiomyopathy, Abnormality of the amniotic fluid, Hydrops fetalis |
OMIM:609015 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... |
ORPHA:97214 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis |
ORPHA:86843 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Thrombocytopenia |
OMIM:254900 |
Aymé-Gripp Syndrome |
|
Pericarditis, Short stature, Pericardial effusion, Postnatal growth retardation, Patent ductus ar... |
ORPHA:1272 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia... |
OMIM:610377 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Umbilical hernia, Redundant skin, Mitral valve prolapse |
ORPHA:536532 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Prolonged neonatal jaundice |
ORPHA:423479 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema |
OMIM:607823 |
Cranioectodermal Dysplasia 2 |
|
Short stature, Rhizomelia, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Hydrops fetali... |
OMIM:613610 |
Phocomelia, Schinzel Type |
|
Intrauterine growth retardation, Disproportionate short stature, Meningocele, Hydrops fetalis |
ORPHA:2879 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... |
ORPHA:330015 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Neutropenia, Megaloblastic anemia |
ORPHA:79284 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Thrombocytopenia, Microcytic anemia |
OMIM:256040 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Normochromic anemia |
ORPHA:247691 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemic pallor, Short stature, Patent ductus arteriosus, Hydrocephalus, Reticulocyto... |
OMIM:227646 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy |
ORPHA:300751 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Thrombocytosis, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Thickened nuchal skin fold, Atrial septal defect, Bicuspid aortic valve, Nonimmune hydrops fetali... |
OMIM:265380 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Abnormal pancre... |
ORPHA:116 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell count, Decreas... |
OMIM:301074 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Angioedema, Dilated car... |
ORPHA:3260 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... |
OMIM:208150 |
Lesch-Nyhan Syndrome |
|
Megaloblastic anemia |
OMIM:300322 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Hematemesis, Hematochezia, Melena, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, A... |
OMIM:600376 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Leukocytosis, Peritonitis, Recurrent tonsillitis, Bone marrow hypocellula... |
ORPHA:2968 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration |
OMIM:620306 |
Myhre Syndrome |
|
Ventricular septal defect, Short stature, Pericardial effusion, Patent ductus arteriosus, Birth l... |
OMIM:139210 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Eosinophilia |
ORPHA:199299 |
Congenital Myopathy 22B, Severe Fetal |
|
Decreased fetal movement, Nonimmune hydrops fetalis, Polyhydramnios, Breech presentation, Pleural... |
OMIM:620369 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Decreased fetal movement, Umbilical hernia, Short stature, Hydrops fetalis |
OMIM:265000 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Facial edema, Splenomegaly, Hemophagocytosis, Anemia |
OMIM:618398 |
Adenohypophysitis |
|
Normochromic anemia |
ORPHA:95512 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Nonimmune hydrops fetalis, Edema, Splenomegaly, Abnormality of the amniotic flu... |
ORPHA:95159 |
Non-Functioning Pituitary Adenoma |
|
Anemia of inadequate production |
ORPHA:91349 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Iron deficiency anemia |
OMIM:269200 |
Degcags Syndrome |
|
Pancytopenia, Premature birth, Ventricular septal defect, Polyhydramnios, Congenital hypoplastic ... |
OMIM:619488 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Reticulocytosis, Decreased HDL cholesterol concentration, Hepatome... |
ORPHA:14 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Polysplenia |
OMIM:614294 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Poikilocytosis, Acanthocytosis |
OMIM:618947 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Edema, Myocarditis, Leukocytosis, Pleural empyema, Pallor, Thrombocytopenia, Ge... |
ORPHA:544482 |
Panhypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95513 |
Blomstrand Lethal Chondrodysplasia |
|
Rhizomelia, Premature birth, Polyhydramnios, Hydrops fetalis, Neonatal short-limb short stature |
ORPHA:50945 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Ventricular septal defect, Hydrops fetalis |
ORPHA:268249 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Leukopenia, Aplasia/Hypoplasia of the spleen, Non... |
ORPHA:227990 |
Gaisböck Syndrome |
|
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... |
ORPHA:90041 |
Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Pericardial effusion, Splenomegaly, Leukocytosis, Myocarditis, Leukop... |
ORPHA:99827 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Pericardial effusion, Splenomegaly, Hypoxemia, Pleural effusion |
OMIM:181000 |
Pituitary Apoplexy |
|
Normochromic anemia, Pallor |
ORPHA:95613 |
Capillary Malformation-Arteriovenous Malformation |
|
Nonimmune hydrops fetalis, Lymphedema, Hydrocephalus, Abnormal heart morphology, Chylothorax |
ORPHA:137667 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Splenomegaly, Hydrocephalus, Growth delay, Pallor, Anemia |
ORPHA:667 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Gastrointestinal hemorrhage, Hematemesis, Hematochezia, Melena, Cirrhosis, Hepatic arteriovenous ... |
OMIM:187300 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Leukopenia, Aplasia/Hypoplasia of the spleen, Non... |
ORPHA:227982 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Pulmonary Arteriovenous Malformation |
|
Iron deficiency anemia |
ORPHA:2038 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Ventricular septal defect, Short stature, Polyhydramnios, Cardiomegaly, Post... |
ORPHA:3472 |
Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
Sheehan Syndrome |
|
Normochromic anemia, Dry skin, Pallor |
ORPHA:91355 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Gitelman Syndrome |
|
Pericardial effusion, Iron deficiency anemia, Delayed puberty |
ORPHA:358 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
Lymphangioleiomyomatosis |
|
Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Ascites |
ORPHA:538 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Pallor, Delayed puberty |
ORPHA:91347 |
Esophageal Atresia |
|
Cyanosis, Ventricular septal defect, Polyhydramnios, Growth delay, Absence of stomach bubble on f... |
ORPHA:1199 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Pallor, Pulmonary edema |
ORPHA:137675 |
Slc39A8-Cdg |
|
Hypomanganesemia, Abnormality of the liver, Abnormal blood zinc concentration |
ORPHA:468699 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Megaloblastic anemia |
ORPHA:79351 |
Peutz-Jeghers Syndrome |
|
Iron deficiency anemia |
OMIM:175200 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis |
OMIM:602522 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia |
ORPHA:309031 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Incontinentia Pigmenti |
|
Short stature, Eosinophilia, Leukocytosis, Erythema, Pallor |
OMIM:308300 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis |
ORPHA:79456 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema |
ORPHA:73224 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Cyanosis, Polyhydramnios, Edema, Pericardial effusion, Cardiomegaly, Hyd... |
ORPHA:51608 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Abnormal circulating selenium concentration, Gastrointestinal inflammation, Iron deficiency anemi... |
ORPHA:79408 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Ventricular septal defect, Hydrops fetalis |
OMIM:263520 |
Neuroendocrine Tumor Of Stomach |
|
Iron deficiency anemia |
ORPHA:100075 |
Niemann-Pick Disease Type C |
|
Fetal ascites, Bone-marrow foam cells, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Ascites |
ORPHA:646 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased serum iron, Constipation, Gastroesophageal reflux, Dysphagia, Anemia |
ORPHA:438213 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia |
ORPHA:49041 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Low 5-minute APGAR score, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral... |
ORPHA:99125 |
Acute Adrenal Insufficiency |
|
Normocytic anemia |
ORPHA:95409 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Pallor, Dehydration |
ORPHA:2131 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase... |
ORPHA:99826 |
Glucagonoma |
|
Normochromic anemia, Acanthocytosis |
ORPHA:97280 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia |
ORPHA:100078 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Iron deficiency anemia |
ORPHA:93315 |
Addison Disease |
|
Normocytic anemia, Thiamine-responsive megaloblastic anemia |
ORPHA:85138 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Prolactinoma |
|
Pallor, Delayed puberty |
ORPHA:2965 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Iron deficiency anemia |
ORPHA:261584 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T... |
ORPHA:289390 |
Vipoma |
|
Normochromic anemia |
ORPHA:97282 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
Kikuchi-Fujimoto Disease |
|
Ataxia, Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia |
ORPHA:50918 |
Goodpasture Syndrome |
|
Cyanosis, Pallor, Anemia |
OMIM:233450 |
Occipital Horn Syndrome |
|
Chronic diarrhea, Decreased circulating ceruloplasmin concentration, Decreased circulating copper... |
OMIM:304150 |
Acute Transverse Myelitis |
|
Paralytic ileus, Constipation, Decreased circulating copper concentration, Gastroparesis |
ORPHA:139417 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Premature birth, Ventricular septal defect, Polyhydramnios, Hydrops fetalis,... |
OMIM:216340 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Normochromic anemia, Reduced hematocrit |
ORPHA:91500 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Leukopenia, Anemia, Thrombocytopenia |
ORPHA:84 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Disproportionate short-limb short stature, Hydrops fetalis |
ORPHA:93271 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Pallor |
OMIM:253280 |
Pmm2-Cdg |
|
Pericarditis, Lymphedema, Pericardial effusion, Anasarca, Impaired neutrophil chemotaxis, Hypertr... |
ORPHA:79318 |
Wrinkly Skin Syndrome |
|
High nonceruloplasmin-bound serum copper |
ORPHA:2834 |