| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h... |
OMIM:615234 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia... |
ORPHA:848 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombo... |
ORPHA:824 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
| Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia |
ORPHA:163596 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
| Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pallor, Hepatomegaly |
OMIM:613561 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... |
OMIM:613839 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... |
ORPHA:1959 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Pallor, Hepatomegaly |
ORPHA:56425 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor |
OMIM:611590 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... |
ORPHA:98870 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea... |
ORPHA:300298 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
| Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife... |
ORPHA:3226 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor |
ORPHA:90037 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ... |
ORPHA:101096 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro... |
OMIM:600462 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia |
ORPHA:90045 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor, Anemia |
OMIM:246450 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor |
ORPHA:90033 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... |
OMIM:557000 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Pallor, Hepatosplenomegaly |
ORPHA:99931 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... |
ORPHA:86839 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, Hepatomegaly |
ORPHA:276575 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
| Ollier Disease |
|
Micromelia, Abnormal cartilage morphology, Multiple enchondromatosis, Abnormal metaphysis morphol... |
ORPHA:296 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276556 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Petechiae, Splenomegaly, Leukocytosis, Jaundice, Anemia, Decreased liver function, ... |
ORPHA:90051 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276580 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:324575 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Congenital Heart Block |
|
Intrauterine growth retardation, Patent ductus arteriosus, Pallor |
ORPHA:60041 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid ac... |
ORPHA:20 |
| Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| American Trypanosomiasis |
|
Splenomegaly, Pallor, Hepatomegaly |
ORPHA:3386 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Pallor, Leukemia, Purpura |
ORPHA:33226 |
| Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Pallor, Neutropenia |
OMIM:609053 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor, Anemia |
ORPHA:329971 |
| Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Leukocytosis, Pallor, Hepatomegaly |
ORPHA:134 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased... |
ORPHA:263455 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Intrauterine growth retardat... |
OMIM:227645 |
| Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
| Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocy... |
ORPHA:3260 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Fumarase Deficiency |
|
Intrahepatic cholestasis, Hepatic failure, Polycythemia, Pallor |
OMIM:606812 |
| Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
| Adenohypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95512 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor |
ORPHA:348 |
| Panhypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95513 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemic pallor, Patent ductus arteriosus, Annular pancreas, Reticulocytopenia, Anemi... |
OMIM:227646 |
| Pituitary Apoplexy |
|
Normochromic anemia, Pallor |
ORPHA:95613 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Facial erythema |
ORPHA:284227 |
| Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Sheehan Syndrome |
|
Normochromic anemia, Dry skin, Pallor |
ORPHA:91355 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pallor, Polycythemia |
ORPHA:892 |
| Incontinentia Pigmenti |
|
Leukocytosis, Erythema, Eosinophilia, Pallor |
OMIM:308300 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Pallor, Anemia, Hepatomegaly |
ORPHA:667 |
| Lethal Kniest-Like Dysplasia |
|
Mesomelic/rhizomelic limb shortening, Wide anterior fontanel, Abnormal cartilage morphology, Flar... |
ORPHA:2347 |
| Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Congenital hypoplastic anemia, Patent ductus arteriosus, Cholestasis,... |
OMIM:619488 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Leukocytosis, Pallor, Pancreatitis, Thrombocytopenia |
ORPHA:544482 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
| Prolactinoma |
|
Pallor |
ORPHA:2965 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Pallor |
ORPHA:137675 |
| Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
| Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Pallor |
ORPHA:653 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Enlarged ... |
ORPHA:93284 |
| Esophageal Atresia |
|
Pallor |
ORPHA:1199 |
| Goodpasture Syndrome |
|
Pallor, Anemia |
OMIM:233450 |
| Tsh-Secreting Pituitary Adenoma |
|
Pallor |
ORPHA:91347 |
| Multiple Osteochondromas |
|
Deformed radius, Short metacarpal, Bowing of the long bones, Abnormal morphology of ulna, Coxa va... |
ORPHA:321 |
| 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 |
| Encephalocraniocutaneous Lipomatosis |
|
Abnormal cartilage morphology |
ORPHA:2396 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Splenomegaly, Hepatomegaly |
OMIM:602557 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatosplenomegaly |
ORPHA:93352 |
