Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor |
ORPHA:46532 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volum... |
OMIM:615234 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Hepatosplenomegaly, Anemia, Cataract |
OMIM:273680 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia, Pallor |
ORPHA:517 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
Beta-Thalassemia |
|
Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Microcytic an... |
ORPHA:848 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Pallor, Anemia, Splenomegaly |
ORPHA:75563 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... |
OMIM:194380 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Elliptocytosis, Pallor, Jaundice |
OMIM:611804 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Pallor, Jaundice |
OMIM:613839 |
Retinohepatoendocrinologic Syndrome |
|
Degenerative liver disease, Pallor |
OMIM:268040 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Dermatitis, Atopic |
|
Cataract, Facial erythema, Dry skin, Pallor, Keratoconus, Conjunctivitis |
OMIM:603165 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Erythroid hyperplasia, Pappenheimer bodies, Sideroblastic anemia, Hypochromic anemia, Microcytic ... |
OMIM:600462 |
Microspherophakia With Hernia |
|
Microspherophakia, Superior lens subluxation |
OMIM:157150 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Primary Myelofibrosis |
|
Ecchymosis, Leukocytosis, Thrombocytosis, Portal hypertension, Hepatomegaly, Petechiae, Anemia, S... |
ORPHA:824 |
Microspherophakia-Metaphyseal Dysplasia |
|
Lens coloboma, Microspherophakia, Lens subluxation |
OMIM:157151 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly, Pallor |
ORPHA:163596 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Cataract, Lens subluxation |
ORPHA:171844 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea |
OMIM:251750 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Anemia, Jaundice |
OMIM:312500 |
Congenital Primary Aphakia |
|
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, M... |
ORPHA:83461 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Microphthalmia, Sclerocornea, Congenital aphakia, Aniridia, Pete... |
OMIM:610256 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Abnormal macrophag... |
ORPHA:507 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Elevated hepatic iron concentration, Hepatocel... |
ORPHA:231222 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti... |
OMIM:300908 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Hereditary Spherocytosis |
|
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Pallor, Extramedullary hematopoiesis, Increas... |
ORPHA:822 |
Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Elevated hepatic transam... |
ORPHA:98870 |
Hemoglobin E Disease |
|
Hypochromia, Intrauterine growth retardation, Hypochromic microcytic anemia, Increased red blood ... |
ORPHA:2133 |
Evans Syndrome |
|
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Autoimmune thrombocyto... |
ORPHA:1959 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
Cold Agglutinin Disease |
|
Pallor, Hepatomegaly, Hemolytic anemia, Splenomegaly |
ORPHA:56425 |
Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas |
ORPHA:1195 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... |
OMIM:613673 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Pallor |
OMIM:611590 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Elevated hepatic iron concentration, Anemia, Hepatosplenomegaly, Dysplastic ... |
ORPHA:300298 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Oculoauricular Syndrome |
|
Iris cyst, Developmental cataract, Microphthalmia, Posterior embryotoxon, Microphakia, Sclerocorn... |
OMIM:612109 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... |
OMIM:616860 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... |
ORPHA:766 |
Spondylo-Ocular Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypopigmentation |
ORPHA:85194 |
Weill-Marchesani Syndrome 3 |
|
Microspherophakia, Shallow anterior chamber, Ectopia lentis |
OMIM:614819 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
Autoimmune Hemolytic Anemia |
|
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Letterer-Siwe Disease |
|
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Pallor, Jaundice |
OMIM:246400 |
Beta-Thalassemia Major |
|
Hepatomegaly, Anisopoikilocytosis, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellula... |
ORPHA:231214 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Elliptocytosis |
OMIM:616959 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular carcinoma, Persistence of hemoglo... |
ORPHA:231226 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia |
OMIM:608898 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia, Neutropenia, Leukemia, Anemia, Thrombocytopenia |
OMIM:614082 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis |
OMIM:187800 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... |
OMIM:224120 |
Nail-Patella Syndrome |
|
Lester's sign, Microphakia, Antecubital pterygium, Spina bifida, Cataract, Microcornea, Keratoconus |
OMIM:161200 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Hepatomegaly, Acute leukemia, Splenomegaly, Myeloproliferative disorder, Thrombocyt... |
ORPHA:3226 |
Myelofibrosis |
|
Myeloproliferative disorder, Pallor, Purpura, Splenomegaly |
OMIM:254450 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Jaundice, Thrombocytopenia, Hemophagocytosis, Co... |
OMIM:603552 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenome... |
ORPHA:331206 |
Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Splenomegaly, Autoimmune hemolytic anemia, Pallor, Jaundice |
ORPHA:90033 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase |
OMIM:613313 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Microphthalmia, Intrauterine growth retardation, Anemia, Aplasia/Hypoplasia of the ... |
ORPHA:290 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Anemia, Cirrhosis, Hepatic steatosis, Cataract |
OMIM:606069 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly, Focal pancreatic islet hyperplasia |
ORPHA:276575 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Normochromic anemia, C... |
ORPHA:98849 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor, Anemia |
OMIM:246450 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Intrauterine growth retardation, Anemia |
ORPHA:295 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276556 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
Acute Erythroid Leukemia |
|
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia |
ORPHA:318 |
Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Hepatomegaly, Hepatosplenomegaly, Pallor |
ORPHA:99931 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Eosinophilia, Pallor |
ORPHA:90045 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276580 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Hemochromatosis, Type 3 |
|
Neutropenia, Anemia, Cirrhosis, Purpura, Lymphopenia, Elevated hepatic transaminase |
OMIM:604250 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
Anemia, Sideroblastic, 1 |
|
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... |
OMIM:300751 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor, Autoimmune hemolytic anemia |
ORPHA:90036 |
Transaldolase Deficiency |
|
Anemia, Cirrhosis, Hepatosplenomegaly, Premature skin wrinkling, Thrombocytopenia |
ORPHA:101028 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia, Petechiae |
OMIM:616216 |
Hyperlysinemia, Type I |
|
Anemia, Ectopia lentis |
OMIM:238700 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:324575 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Neutropenia, Intrauterine growth retardation, Optic nerve hypoplasia, Astigmatism... |
OMIM:609053 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary h... |
OMIM:612840 |
Infantile Liver Failure Syndrome 1 |
|
Macrocytic anemia, Hepatomegaly, Anemia, Hepatic steatosis, Acute hepatic failure, Elevated hepat... |
OMIM:615438 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Senior-Loken Syndrome 8 |
|
Hepatic cysts, Pallor, Pancreatic cysts |
OMIM:616307 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Purpura, Asplenia |
ORPHA:3204 |
Sepsis In Premature Infants |
|
Leukocytosis, Hepatomegaly, Neutropenia, Petechiae, Anemia, Splenomegaly, Decreased liver functio... |
ORPHA:90051 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pallor |
OMIM:608423 |
Retinitis Pigmentosa 75 |
|
Pallor, Mixed astigmatism |
OMIM:617023 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:235700 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, Acute myeloid leukemia, Thrombocyt... |
ORPHA:86839 |
Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Weill-Marchesani Syndrome 2 |
|
Shallow anterior chamber, Ectopia lentis, Iridodonesis, Microspherophakia, Striae distensae, Lack... |
OMIM:608328 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Kniest Dysplasia |
|
Cataract, Aplasia/Hypoplasia of the lens, Lens luxation |
ORPHA:485 |
Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Otodental Syndrome |
|
Lens coloboma, Microphthalmia, Iris coloboma, Cataract, Microcornea |
ORPHA:2791 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Developmental cataract, Elevated red cell adenosine deaminase level, Neutropenia,... |
ORPHA:124 |
Fumarase Deficiency |
|
Polycythemia, Pallor, Cholestasis, Hepatic failure |
OMIM:606812 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... |
OMIM:278000 |
Wilson Disease |
|
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acu... |
ORPHA:905 |
American Trypanosomiasis |
|
Hepatomegaly, Pallor, Splenomegaly |
ORPHA:3386 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Petechiae, Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate prod... |
OMIM:300367 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Increased hepatic glycogen content, Pancreatic islet-cell hyperplasia, Elevated hep... |
ORPHA:263455 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lipid accumulation in hepatocytes, Anemia... |
ORPHA:20 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Microphthalmia, Congenital aphakia, Corneal opacity, Megalocornea, Pallor |
ORPHA:137675 |
Hepatoportal Sclerosis |
|
Leukopenia, Hepatocellular carcinoma, Anemia, Nodular regenerative hyperplasia of liver, Splenome... |
ORPHA:64743 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Normocytic anemia, Leukemia, Splenomegaly, Purpura, Pallor, Abnormality of neutrophils |
ORPHA:33226 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:185000 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... |
OMIM:109270 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Th... |
OMIM:600901 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Microphthalmia, Umbilical hernia |
OMIM:618914 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
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Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq... |
OMIM:612714 |
Retinitis Pigmentosa 51 |
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Pallor |
OMIM:613464 |
Myopathic Ehlers-Danlos Syndrome |
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Pallor |
ORPHA:536516 |
Fanconi Anemia, Complementation Group A |
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Microphthalmia, Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Th... |
OMIM:227650 |
Fanconi Anemia, Complementation Group C |
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Microphthalmia, Neutropenia, Anemic pallor, Intrauterine growth retardation, Leukemia, Anemia, Re... |
OMIM:227645 |
Weill-Marchesani Syndrome 1 |
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Microspherophakia, Shallow anterior chamber, Cataract, Ectopia lentis |
OMIM:277600 |
Diamond-Blackfan Anemia 20 |
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Anemia, Erythroid hypoplasia |
OMIM:618313 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
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Anemia, Anemic pallor |
ORPHA:329971 |
Rh Deficiency Syndrome |
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Hemolytic anemia, Macrocytic anemia, Hypochromia, Intrauterine growth retardation, Stomatocytosis... |
ORPHA:71275 |
Omenn Syndrome |
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B lymphocytopenia, Hepatomegaly, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphoc... |
OMIM:603554 |
Combined Oxidative Phosphorylation Deficiency 40 |
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Decreased liver function, Neonatal death, Anemia, Intrauterine growth retardation |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
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Decreased liver function, Neonatal death, Anemia, Intrauterine growth retardation |
OMIM:618839 |
Myoclonus, Intractable, Neonatal |
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Pallor |
OMIM:617235 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
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Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Beta-Ketothiolase Deficiency |
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Leukocytosis, Pallor, Hepatomegaly, Thrombocytosis |
ORPHA:134 |
Incontinentia Pigmenti |
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Leukocytosis, Microphthalmia, Hypoplasia of the fovea, Erythema, Keratitis, Cataract, Eosinophili... |
OMIM:308300 |
Idiopathic Aplastic Anemia |
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Ecchymosis, Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
ORPHA:88 |
Fructose-1,6-Bisphosphatase Deficiency |
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Elevated hepatic transaminase, Hepatic steatosis, Pallor, Hepatomegaly |
ORPHA:348 |
Kcnq2-Related Epileptic Encephalopathy |
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Pallor, Facial erythema |
ORPHA:439218 |
Non-Functioning Paraganglioma |
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Pallor |
ORPHA:94080 |
Diamond-Blackfan Anemia 1 |
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Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Intrauterine growth ret... |
OMIM:105650 |
Dravet Syndrome |
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Pallor |
ORPHA:33069 |
Idiopathic Hypereosinophilic Syndrome |
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Leukocytosis, Thrombocytosis, Cholangitis, Portal fibrosis, Chronic hepatitis, Anemia, Pancreatit... |
ORPHA:3260 |
Pituitary Apoplexy |
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Mydriasis, Normochromic anemia, Pallor |
ORPHA:95613 |
Rheumatic Fever |
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Pallor, Erythema |
ORPHA:3099 |
Dohle Bodies And Leukemia |
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Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies |
OMIM:223350 |
Adenohypophysitis |
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Normochromic anemia, Pallor |
ORPHA:95512 |
Bone Marrow Failure Syndrome 6 |
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Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
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Pallor |
ORPHA:13 |
Marfan Syndrome |
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Hypoplasia of the iris, Ectopia lentis, Microspherophakia, Striae distensae, Cataract, Astigmatism |
OMIM:154700 |
Fanconi Anemia, Complementation Group D2 |
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Microphthalmia, Neutropenia, Anemic pallor, Annular pancreas, Leukemia, Anemia, Reticulocytopenia... |
OMIM:227646 |
Norrie Disease |
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Microphthalmia, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Sclerocor... |
ORPHA:649 |
Panhypophysitis |
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Normochromic anemia, Pallor |
ORPHA:95513 |
Non-Functioning Pituitary Adenoma |
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Pallor, Anemia of inadequate production |
ORPHA:91349 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Cone-Rod Dystrophy 8 |
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Pallor |
OMIM:605549 |
Sheehan Syndrome |
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Dry skin, Normochromic anemia, Pallor |
ORPHA:91355 |
Interstitial Lung And Liver Disease |
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Thrombocytosis, Hepatomegaly, Hepatic fibrosis, Anemia, Cirrhosis, Hepatic steatosis, Elevated ci... |
OMIM:615486 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
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Jaundice, Macrocytic anemia, Congenital hypoplastic anemia, Anemia of inadequate production |
OMIM:105600 |
Degcags Syndrome |
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Hepatomegaly, Microphthalmia, Intrauterine growth retardation, Leukopenia, Iron deficiency anemia... |
OMIM:619488 |
Hereditary Pheochromocytoma-Paraganglioma |
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Aniridia, Pallor |
ORPHA:29072 |
Phace Syndrome |
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Lens coloboma, Microphthalmia, Sclerocornea, Optic nerve hypoplasia, Iris coloboma, Heterochromia... |
ORPHA:42775 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Sponastrime Dysplasia |
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Microcoria, Intrauterine growth retardation, Neutropenia, Congenital aphakia, Cataract |
ORPHA:93357 |
Autosomal Recessive Malignant Osteopetrosis |
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Hepatomegaly, Pallor, Anemia, Splenomegaly |
ORPHA:667 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Pallor |
ORPHA:276621 |
Kasabach-Merritt Syndrome |
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Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Petechiae, Anemia, Purpura, Reticuloc... |
ORPHA:2330 |
Infection-Related Hemolytic Uremic Syndrome |
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Hemolytic anemia, Leukocytosis, Pancreatitis, Thrombocytopenia, Pallor |
ORPHA:544482 |
Rare Circulatory System Disease |
|
Pallor |
ORPHA:98028 |
Von Hippel-Lindau Disease |
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Pancreatic cysts, Polycythemia, Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pallor |
ORPHA:892 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Buphthalmos, Microphthalmia, Hypoplasia of the retina, Cataract, Megalocornea, Opacification of t... |
OMIM:253280 |
Neuroocular Syndrome |
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Blue irides, Lens coloboma, Microphthalmia, Hypoplasia of the fovea, Stellate iris, Brushfield sp... |
OMIM:619539 |
Alternating Hemiplegia Of Childhood |
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Mydriasis, Pallor |
ORPHA:2131 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Multiple Endocrine Neoplasia Type 2 |
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Prominent corneal nerve fibers, Pallor, Neoplasm of the liver |
ORPHA:653 |
Esophageal Atresia |
|
Pallor |
ORPHA:1199 |
Tsh-Secreting Pituitary Adenoma |
|
Pallor |
ORPHA:91347 |
Goodpasture Syndrome |
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Pallor, Anemia |
OMIM:233450 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Pallor |
ORPHA:99125 |