Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability, Pancytopenia |
OMIM:600546 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Miscarriage, Abnormal hemoglobin, Anemia of inadequate productio... |
ORPHA:2133 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... |
OMIM:224100 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Anemia... |
OMIM:616435 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia... |
ORPHA:848 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Chromosomal breakage induced by crosslinking agents, Neutropenia |
OMIM:617243 |
Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis |
ORPHA:33574 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
N Syndrome |
|
Abnormality of chromosome stability, Leukemia |
OMIM:310465 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability, Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia |
ORPHA:859 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h... |
OMIM:615234 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Reduced platelet ... |
OMIM:314050 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Increased circulating lactat... |
ORPHA:824 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pallor, Hepatomegaly |
OMIM:613561 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Pig... |
ORPHA:232 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase... |
OMIM:224120 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Intrauterine growth retardation, Thrombocytopenia |
OMIM:189800 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... |
OMIM:613839 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... |
ORPHA:98870 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia |
ORPHA:163596 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea... |
ORPHA:300298 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase... |
ORPHA:3202 |
Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor |
OMIM:611590 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Abnormal lactate dehydrogenase level, Microangiopathic hemolytic anemia, Thrombo... |
ORPHA:54057 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... |
ORPHA:1959 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Petechiae |
OMIM:611490 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Miscarriage, Increased circulating lactate ... |
ORPHA:71275 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... |
ORPHA:331206 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra... |
OMIM:232800 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Ecchymosis, Th... |
ORPHA:88 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Pallor, Neutr... |
ORPHA:101096 |
Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis |
OMIM:300653 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Pallor, Hepatomegaly |
ORPHA:56425 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife... |
ORPHA:3226 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemic pallor, Chromosomal breakage induced by crosslinking agents, Prolonged G2 ph... |
OMIM:600901 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Increased circulating lactate dehydrogenase concentrat... |
ORPHA:86841 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Anemic pallor, Chromosomal breakage induced by crosslinking agents, Prolonged G2 ph... |
OMIM:227645 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro... |
OMIM:600462 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Pallor, T... |
ORPHA:90045 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemic pallor, Chromosomal breakage induced by crosslinking agents, Prolonged G2 ph... |
OMIM:227650 |
Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... |
OMIM:605724 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor, Anemia, Death in childhood |
OMIM:246450 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Increased circu... |
OMIM:210250 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... |
ORPHA:86839 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis |
OMIM:300752 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... |
OMIM:275350 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Thrombocytopenia... |
OMIM:557000 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Elevated hepatic transaminase, Hepatomegaly, Jaundi... |
OMIM:301045 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia, Facial erythema |
ORPHA:284227 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor |
ORPHA:90037 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor |
ORPHA:90033 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Immunodeficiency 54 |
|
Splenomegaly, Chromosome breakage, Reduced natural killer cell count |
OMIM:609981 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Deat... |
OMIM:610333 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Purpura |
OMIM:604250 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ... |
OMIM:274150 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... |
OMIM:615438 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, M... |
OMIM:618278 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Pallor, Hepatosplenomegaly |
ORPHA:99931 |
Sepsis In Premature Infants |
|
Hepatomegaly, Petechiae, Splenomegaly, Leukocytosis, Jaundice, Anemia, Pallor, Decreased liver fu... |
ORPHA:90051 |
Fanconi Anemia, Complementation Group D2 |
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Pancytopenia, Anemic pallor, Chromosomal breakage induced by crosslinking agents, Patent ductus a... |
OMIM:227646 |
Icf Syndrome |
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Anemia, Abnormality of chromosome stability, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Optic Atrophy 1 |
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Pallor |
OMIM:165500 |
Cholesteryl Ester Storage Disease |
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Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta... |
OMIM:278000 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Purpura |
OMIM:235400 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Erythrocytosis, Familial, 2 |
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Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Spherocytosis, Type 3 |
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Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Fanconi Anemia, Complementation Group S |
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Chromosome breakage, Anemia |
OMIM:617883 |
Fanconi Anemia, Complementation Group I |
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Pallor, Bone marrow hypocellularity, Neutropenia, Intrauterine growth retardation, Chromosomal br... |
OMIM:609053 |
Ataxia-Telangiectasia |
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Abnormality of chromosome stability, Lymphopenia |
ORPHA:100 |
Elliptocytosis 3 |
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Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Kasabach-Merritt Syndrome |
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Reticulocytosis, Petechiae, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic he... |
ORPHA:2330 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Thrombocytopenia, Reticulocytopenia, Dry skin, Leukopenia, B lymphocytopenia, Bone marrow hypocel... |
ORPHA:508542 |
Dermatitis, Atopic |
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Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Benign Paroxysmal Torticollis Of Infancy |
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Pallor |
ORPHA:71518 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Abnormal reticulocyte morphology |
ORPHA:2522 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Pallor |
ORPHA:2786 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Elevated hepatic transaminase, Hepatomegaly, Leukocytosis, Jaundice, Lipid accumulation in hepato... |
ORPHA:20 |
Myelofibrosis |
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Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Diamond-Blackfan Anemia 10 |
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Macrocytic anemia, Patent ductus arteriosus, Reticulocytopenia, Steroid-responsive anemia, Anemia |
OMIM:613309 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
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Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, He... |
ORPHA:210136 |
Ovalocytosis, Southeast Asian |
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Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Fanconi Anemia, Complementation Group R |
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Anemia, Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
Leber Congenital Amaurosis 14 |
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Pallor |
OMIM:613341 |
Fumarase Deficiency |
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Decreased fumarate hydratase activity, Intrahepatic cholestasis, Pallor, Hepatic failure, Polycyt... |
OMIM:606812 |
Diamond-Blackfan Anemia 6 |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Patent ductus ... |
OMIM:612561 |
Waldenström Macroglobulinemia |
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Normocytic anemia, Hepatomegaly, Purpura, Abnormality of neutrophils, Splenomegaly, Pallor, Leuke... |
ORPHA:33226 |
Diamond-Blackfan Anemia |
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Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Fanconi Anemia, Complementation Group O |
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Chromosome breakage |
OMIM:613390 |
Hereditary Methemoglobinemia |
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Methemoglobinemia |
ORPHA:621 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
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Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
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Anemic pallor, Anemia |
ORPHA:329971 |
Fragile X Syndrome |
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Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Wilson Disease |
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Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Bone Marrow Failure Syndrome 3 |
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Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Aplastic anemia, Thrombocytopenia, Per... |
OMIM:617052 |
Autoimmune Lymphoproliferative Syndrome |
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Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
Familial Focal Epilepsy With Variable Foci |
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Pallor |
ORPHA:98820 |
Immunodeficiency 47 |
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Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Death in in... |
OMIM:300972 |
Hepatoportal Sclerosis |
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Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... |
ORPHA:64743 |
Primary Lateral Sclerosis, Juvenile |
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Pallor |
OMIM:606353 |
Familial Hemophagocytic Lymphohistiocytosis |
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Elevated hepatic transaminase, Hepatomegaly, Petechiae, Reduced natural killer cell activity, Spl... |
ORPHA:540 |
Neonatal Lupus Erythematosus |
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Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl... |
ORPHA:398124 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
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Pallor |
OMIM:612989 |
Fanconi Anemia, Complementation Group P |
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Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents |
OMIM:613951 |
Fanconi Anemia, Complementation Group N |
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Aplastic anemia, Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Chromosomal breakage induced ... |
OMIM:620133 |
Fragile X Syndrome |
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Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Lig4 Syndrome |
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Leukocytosis, Abnormality of chromosome stability, Pancytopenia, Acute leukemia |
ORPHA:99812 |
Shwachman-Diamond Syndrome 1 |
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Acute myeloid leukemia, Myocardial necrosis, Pancytopenia, Hepatomegaly, Elevated hepatic transam... |
OMIM:260400 |
Beta-Ketothiolase Deficiency |
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Thrombocytosis, Leukocytosis, Pallor, Hepatomegaly |
ORPHA:134 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Pallor |
ORPHA:276608 |
Hypermanganesemia With Dystonia 1 |
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Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia |
OMIM:613280 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
Fanconi Anemia, Complementation Group Q |
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Chromosome breakage |
OMIM:615272 |
Congenital Heart Block |
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Intrauterine growth retardation, Patent ductus arteriosus, Pallor |
ORPHA:60041 |
Myh9-Related Disease |
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Elevated hepatic transaminase, Increased mean platelet volume, Giant platelets, Neutrophil inclus... |
ORPHA:182050 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Hepatomegaly, Pallor |
ORPHA:276556 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
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Elevated hepatic transaminase, Death in infancy, Microvesicular hepatic steatosis, Death in child... |
OMIM:611126 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Hepatomegaly, Pallor |
ORPHA:276575 |
American Trypanosomiasis |
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Splenomegaly, Pallor, Hepatomegaly |
ORPHA:3386 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Hepatomegaly, Pallor |
ORPHA:276580 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Hepatomegaly, Pallor |
ORPHA:324575 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
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HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Increased circu... |
ORPHA:90038 |
Idiopathic Hypereosinophilic Syndrome |
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Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocy... |
ORPHA:3260 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Adenohypophysitis |
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Normochromic anemia, Pallor |
ORPHA:95512 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Persistence of hemoglobin F, Patent ductus arteriosus |
OMIM:619769 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Elevated hepatic transaminase, Neutrophilia, Liver abscess, Anemia |
ORPHA:54251 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
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Intrauterine growth retardation, HbH hemoglobin, Prolonged neonatal jaundice |
ORPHA:423479 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alkaline phosphatase concentrat... |
ORPHA:263455 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... |
ORPHA:79124 |
Panhypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95513 |
Acquired Methemoglobinemia |
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Methemoglobinemia |
ORPHA:464453 |
Fanconi Anemia, Complementation Group B |
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Abnormality of chromosome stability, Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
Fanconi Anemia, Complementation Group U |
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Chromosome breakage |
OMIM:617247 |
Pituitary Apoplexy |
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Normochromic anemia, Pallor |
ORPHA:95613 |
Methemoglobinemia And Ambiguous Genitalia |
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Methemoglobinemia |
OMIM:250790 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
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Persistence of hemoglobin F |
OMIM:617101 |
Irida Syndrome |
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Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Reticulocytosis, Pancytopenia, Hepatomegaly, Splenomegaly, Macrono... |
ORPHA:699 |
Paroxysmal Nocturnal Hemoglobinuria |
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Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... |
ORPHA:447 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Reticulocytosis, Hepatomegaly, Acanthocytosis, Hepatic fibrosis, C... |
ORPHA:14 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Sheehan Syndrome |
|
Normochromic anemia, Dry skin, Pallor |
ORPHA:91355 |
Bloom Syndrome |
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Chromosome breakage, Abnormality of chromosome stability, Elevated hemoglobin A1c, Leukemia |
OMIM:210900 |
Fanconi Anemia, Complementation Group F |
|
Anemia, Leukopenia, Thrombocytopenia, Chromosomal breakage induced by crosslinking agents |
OMIM:603467 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Thymoma |
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Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Decreased circulating an... |
ORPHA:99867 |
Fanconi Anemia, Complementation Group L |
|
Anemia, Chromosome breakage, Chromosomal breakage induced by crosslinking agents |
OMIM:614083 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:348 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Anemia, Increased circulating antibody... |
OMIM:617591 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decre... |
ORPHA:1572 |
Lead Poisoning |
|
Miscarriage, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell mo... |
ORPHA:330015 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Scaling ski... |
ORPHA:293173 |
Revesz Syndrome |
|
Abnormality of chromosome stability, Aplastic anemia |
OMIM:268130 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... |
ORPHA:79277 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Pallor, Anemia, Hepatomegaly |
ORPHA:667 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Incontinentia Pigmenti |
|
Leukocytosis, Erythema, Eosinophilia, Pallor |
OMIM:308300 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Lymphopenia, Reticulocytosis, Petechiae, Jaundice, Neutrophilia in... |
ORPHA:99826 |
Von Hippel-Lindau Disease |
|
Polycythemia, Pallor |
ORPHA:892 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Leukocytosis, Pallor, Thrombocytopenia |
ORPHA:544482 |
Gaisböck Syndrome |
|
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... |
ORPHA:90041 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Abnormality of chromosome stability, Autoimmune hemolytic anemia, Acute leukemi... |
ORPHA:647 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Death in infancy, Abnormal hemoglobin, Anemia |
ORPHA:847 |
Senior-Loken Syndrome 8 |
|
Hepatic cysts, Pallor, Intrahepatic bile duct dilatation |
OMIM:616307 |
Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Congenital hypoplastic anemia, Patent ductus arteriosus, Cholestasis,... |
OMIM:619488 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Cartilage-Hair Hypoplasia |
|
Abnormality of chromosome stability, Anemia, Neutropenia |
ORPHA:175 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Abnormality of chromosome stability, Thrombocytopenia... |
ORPHA:84 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Goodpasture Syndrome |
|
Pallor, Anemia |
OMIM:233450 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Riddle Syndrome |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Pallor |
ORPHA:137675 |
Meningioma |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:2495 |
Esophageal Atresia |
|
Pallor |
ORPHA:1199 |
Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Pallor |
ORPHA:653 |
Tsh-Secreting Pituitary Adenoma |
|
Pallor |
ORPHA:91347 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Patent ductus arteriosus, Pallor |
ORPHA:99125 |