Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Pallor, Anemia, Splenomegaly |
ORPHA:46532 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia, Pallor |
ORPHA:517 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume, Pallor |
OMIM:615234 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Pallo... |
OMIM:615631 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
X-Linked Sideroblastic Anemia |
|
Pallor, Anemia, Splenomegaly |
ORPHA:75563 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Erythroid hyperplasia, Pappenheimer bodies, Sideroblastic anemia, Hypochromic anemia, Microcytic ... |
OMIM:600462 |
Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Thrombocytopenia, Megaloblastic anemia, Pallor |
OMIM:613839 |
Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia, Pallor, Skin ulcer |
ORPHA:848 |
Primary Myelofibrosis |
|
Ecchymosis, Leukocytosis, Thrombocytosis, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly, Po... |
ORPHA:824 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Elliptocytosis 1 |
|
Pallor, Hemolytic anemia, Elliptocytosis, Splenomegaly |
OMIM:611804 |
Leishmaniasis |
|
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia,... |
ORPHA:507 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Retinohepatoendocrinologic Syndrome |
|
Pallor |
OMIM:268040 |
Evans Syndrome |
|
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Pal... |
ORPHA:1959 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... |
OMIM:300908 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
Hb Bart'S Hydrops Fetalis |
|
Pallor, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Pallor |
OMIM:611590 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Autoimmune Hemolytic Anemia |
|
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Anemia, Hepatosplenomegaly, Dysplastic erythropoesis, Reticulocytopenia, Dec... |
ORPHA:300298 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Elliptocytosis |
OMIM:616959 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Increased red cell hemolysis by shear stress, Splenomegaly, Exercise-induced hemolysis, Increased... |
OMIM:194380 |
Hereditary Spherocytosis |
|
Anemia, Splenomegaly, Pallor, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin... |
ORPHA:822 |
Myelofibrosis |
|
Myeloproliferative disorder, Pallor, Purpura, Splenomegaly |
OMIM:254450 |
Cold Agglutinin Disease |
|
Pallor, Hemolytic anemia, Splenomegaly |
ORPHA:56425 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Acute leukemia, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnorm... |
ORPHA:3226 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Letterer-Siwe Disease |
|
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Pallor |
OMIM:246400 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Eosinophilia, Pallor |
ORPHA:90045 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Erythroid hyperplasia, Persistence of hemoglobin F, Splenomegaly, Hepatosplenomegal... |
ORPHA:231222 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... |
ORPHA:331206 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor, Autoimmune hemolytic anemia |
ORPHA:90036 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Pallor, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90033 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pallor |
OMIM:608423 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, Acute myeloid leukemia, Thrombocyt... |
ORPHA:86839 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... |
ORPHA:231214 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Anemia |
OMIM:246450 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Hepatosplenomegaly, Pallor |
ORPHA:99931 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Sepsis In Premature Infants |
|
Leukocytosis, Neutropenia, Petechiae, Anemia, Splenomegaly, Purpura, Thrombocytopenia, Pallor |
ORPHA:90051 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Fumarase Deficiency |
|
Polycythemia, Pallor |
OMIM:606812 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Fanconi Anemia, Complementation Group E |
|
Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:600901 |
Fanconi Anemia, Complementation Group I |
|
Pallor, Neutropenia |
OMIM:609053 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Myoclonus, Intractable, Neonatal |
|
Pallor |
OMIM:617235 |
American Trypanosomiasis |
|
Pallor, Splenomegaly |
ORPHA:3386 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227650 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:222800 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Leukemia, Splenomegaly, Purpura, Pallor, Abnormality of neutrophils |
ORPHA:33226 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemia, Anemic pallor |
ORPHA:329971 |
Beta-Ketothiolase Deficiency |
|
Leukocytosis, Pallor, Thrombocytosis |
ORPHA:134 |
Fanconi Anemia, Complementation Group C |
|
Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227645 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Pallor |
ORPHA:20 |
Rheumatic Fever |
|
Pallor, Erythema |
ORPHA:3099 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
Adenohypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95512 |
Diamond-Blackfan Anemia 1 |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... |
OMIM:105650 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Pituitary Apoplexy |
|
Normochromic anemia, Pallor |
ORPHA:95613 |
Panhypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95513 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
Sheehan Syndrome |
|
Dry skin, Normochromic anemia, Pallor |
ORPHA:91355 |
Idiopathic Hypereosinophilic Syndrome |
|
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Myeloproliferative disorder, Hepatosplenomega... |
ORPHA:3260 |
Incontinentia Pigmenti |
|
Leukocytosis, Eosinophilia, Pallor, Erythema |
OMIM:308300 |
Fanconi Anemia, Complementation Group D2 |
|
Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227646 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Rare Circulatory System Disease |
|
Pallor |
ORPHA:98028 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pallor, Leukocytosis, Hemolytic anemia, Thrombocytopenia |
ORPHA:544482 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
Degcags Syndrome |
|
Leukopenia, Iron deficiency anemia, Congenital hypoplastic anemia, Anemia, Abnormal spleen morpho... |
OMIM:619488 |
Von Hippel-Lindau Disease |
|
Polycythemia, Pallor |
ORPHA:892 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pallor, Anemia, Splenomegaly |
ORPHA:667 |
Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
Histiocytoid Cardiomyopathy |
|
Pallor |
ORPHA:137675 |
Esophageal Atresia |
|
Pallor |
ORPHA:1199 |
Tsh-Secreting Pituitary Adenoma |
|
Pallor |
ORPHA:91347 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
Goodpasture Syndrome |
|
Pallor, Anemia |
OMIM:233450 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor |
ORPHA:99125 |
Epilepsy, Familial Adult Myoclonic, 6 |
|
|
OMIM:618074 |