Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver |
OMIM:206100 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Retinohepatoendocrinologic Syndrome |
|
Pallor, Degenerative liver disease |
OMIM:268040 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Jaundice |
OMIM:312500 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
X-Linked Sideroblastic Anemia |
|
Pallor, Elevated hepatic transaminase, Splenomegaly |
ORPHA:75563 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia |
OMIM:153550 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor, Hepatomegaly, Splenomegaly |
OMIM:615234 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas |
ORPHA:1195 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Absent ankle pulse, Pallor, Myocardial infarction, Abnormality of v... |
ORPHA:90064 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor, Splenomegaly |
ORPHA:228312 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Evans Syndrome |
|
Petechiae, Jaundice, Bruising susceptibility, Pallor, Syncope, Epistaxis |
ORPHA:1959 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos... |
OMIM:616860 |
Irida Syndrome |
|
Pallor, Intrahepatic cholestasis |
ORPHA:209981 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Skin ulcer, Hypertrophic cardiomyo... |
ORPHA:848 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor, Hepatomegaly, Jaundice |
OMIM:613839 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Splenomegaly, Pallor, Pericarditis, Congestive heart failure |
ORPHA:163596 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, H... |
ORPHA:276556 |
Atransferrinemia |
|
Abnormality of the liver, Hypochromic anemia |
OMIM:209300 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, F... |
ORPHA:276575 |
Elliptocytosis 1 |
|
Pallor, Jaundice, Splenomegaly |
OMIM:611804 |
Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, H... |
ORPHA:276580 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Cholecystitis, Jaundice, Reduced red cell pyr... |
OMIM:266200 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Abnormal bleeding, Pallor, Elevated hepatic transaminase, Skin ulcer |
ORPHA:507 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Anemia, Sideroblastic, 1 |
|
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... |
OMIM:300751 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hepatocellular carcinoma, Elevated gamma-glutamyltransferase level, Elevated circul... |
OMIM:603471 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Primary Myelofibrosis |
|
Petechiae, Hepatomegaly, Splenomegaly, Abnormal bleeding, Pallor, Hepatosplenomegaly, Increased c... |
ORPHA:824 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Cold Agglutinin Disease |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Jaundice |
OMIM:194380 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor, Palpitations, Tachycardia, Syncope |
ORPHA:324575 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Tachycardia, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Decreased liver function, High-output congestive heart failure, Hepatomegaly, Spl... |
ORPHA:231222 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis, ... |
OMIM:617948 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Post-partum hemorrhage, Pallor, Oral cavity bleeding, Elevated hepatic transaminase, Ging... |
ORPHA:98870 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Acute Erythroid Leukemia |
|
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia |
ORPHA:318 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Bruising susceptibility, Splenomegaly, Pallor, Intracranial hemorrhage, Prolonged b... |
ORPHA:3226 |
Myelofibrosis |
|
Pallor, Purpura, Splenomegaly |
OMIM:254450 |
Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Pallor |
ORPHA:517 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Tachycardia, Congestive heart failure, Splenomegaly |
ORPHA:90037 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Pallor, Tachycardia, Jaundice, Congestive heart failure |
ORPHA:90033 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Pallor, Arrhythmia, Myocarditis, Cardiomyopathy, Congestive heart fai... |
ORPHA:3386 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Increased hepatic glycogen... |
ORPHA:263455 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema |
OMIM:603165 |
Senior-Loken Syndrome 8 |
|
Pallor, Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts |
OMIM:616307 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia |
OMIM:613313 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Pallor, Hepatosplenomegaly, Heart murmur, Diffuse alveolar hemorrhage |
ORPHA:99931 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Autoimmune Hemolytic Anemia |
|
Pallor, Arrhythmia, Congestive heart failure, Splenomegaly |
ORPHA:98375 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor, Hypertrophic cardiomyopathy |
OMIM:612989 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Bleeding Disorder, Platelet-Type, 16 |
|
Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Anisocy... |
OMIM:224120 |
Spherocytosis, Type 2 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:616649 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis |
OMIM:266140 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice |
OMIM:185000 |
Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... |
OMIM:615550 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Hemolytic Anemia, Congenital, X-Linked |
|
Hemolytic anemia, Jaundice |
OMIM:301015 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:182900 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor, Hepatosplenomegaly |
OMIM:611590 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Letterer-Siwe Disease |
|
Pallor, Hepatosplenomegaly, Jaundice |
OMIM:246400 |
Diamond-Blackfan Anemia 20 |
|
Anemia, Erythroid hypoplasia |
OMIM:618313 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Pallor, Skin ulcer, Jaundice |
ORPHA:822 |
Spherocytosis, Type 4 |
|
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:612653 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure |
ORPHA:49827 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Abnormal enzyme/coenzyme activity, Pallor, Tachycardia, Elevated hepatic transamina... |
ORPHA:348 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice |
OMIM:603552 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Pallor, Elevated hepatic transaminase, Hepatosplenomegaly, Elevated hepatic iron concentration |
ORPHA:300298 |
Dominant Beta-Thalassemia |
|
High-output congestive heart failure, Splenomegaly, Pallor, Cirrhosis, Chronic hepatitis, Hepatoc... |
ORPHA:231226 |
Myoclonus, Intractable, Neonatal |
|
Pallor |
OMIM:617235 |
Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis |
OMIM:301083 |
Spontaneous Periodic Hypothermia |
|
Pallor, Arrhythmia |
ORPHA:29822 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor, Jaundice, Splenomegaly, Prolonged neonatal jaundice |
OMIM:300908 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Hepatomegaly |
OMIM:246450 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic transaminase, Anemia, He... |
OMIM:615438 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Splenomegaly, Pallor, Retinal hemorrhage, Vasculitis, Gingival bleeding, Purpura, G... |
ORPHA:33226 |
Porphyria Cutanea Tarda |
|
Viral hepatitis, Periportal fibrosis, Abnormal enzyme/coenzyme activity, Chronic hepatitis, Hepat... |
ORPHA:101330 |
Fanconi Anemia, Complementation Group T |
|
Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
Beta-Thalassemia Major |
|
High-output congestive heart failure, Hepatomegaly, Splenomegaly, Pallor, Cirrhosis, Hepatospleno... |
ORPHA:231214 |
Fumarase Deficiency |
|
Pallor, Cholestasis, Hepatic failure |
OMIM:606812 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Cyclic Vomiting Syndrome |
|
Pallor, Cardiomyopathy |
OMIM:500007 |
Sepsis In Premature Infants |
|
Decreased liver function, Petechiae, Hepatomegaly, Splenomegaly, Abnormal bleeding, Pallor, Tachy... |
ORPHA:90051 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Stomatocytosis |
OMIM:268150 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly |
ORPHA:331206 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pallor |
OMIM:608423 |
Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia |
ORPHA:51208 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ... |
OMIM:278000 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Lipid accumulation in hepatocytes, Hepatomegaly, Pallor, Hypotension, Acute pancr... |
ORPHA:20 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... |
OMIM:612714 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Elliptocytosis 2 |
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Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
Rheumatic Fever |
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Pallor, Erythema, Arrhythmia, Myocarditis, Pericarditis, Epistaxis |
ORPHA:3099 |
Dohle Bodies And Leukemia |
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Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia |
OMIM:223350 |
Pearson Marrow-Pancreas Syndrome |
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Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Pallor, Pancreatic fibrosis, Er... |
OMIM:557000 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
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Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
Medullary Thyroid Carcinoma |
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Abnormal liver parenchyma morphology |
ORPHA:1332 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Hepatomegaly, Splenomegaly, Pallor, Tachycardia, Hypotension, Syncope, Elevated total serum tryptase |
ORPHA:98849 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
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Anemia of inadequate production, Macrocytic anemia, Jaundice, Congenital hypoplastic anemia |
OMIM:105600 |
Beta-Ketothiolase Deficiency |
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Pallor, Hypertension, Hepatomegaly, Hypotension |
ORPHA:134 |
Myopathic Ehlers-Danlos Syndrome |
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Pallor |
ORPHA:536516 |
Mixed-Type Autoimmune Hemolytic Anemia |
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Pallor, Tachycardia |
ORPHA:90036 |
Histiocytoid Cardiomyopathy |
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Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Hepatomegaly, Pallor, Tachycardia, ... |
ORPHA:137675 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
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Pallor |
OMIM:600462 |
Rh Deficiency Syndrome |
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Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... |
ORPHA:71275 |
Idiopathic Hypereosinophilic Syndrome |
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Supraventricular arrhythmia, Pancreatitis, Vasculitis in the skin, Splenomegaly, Raynaud phenomen... |
ORPHA:3260 |
Bone Marrow Failure Syndrome 6 |
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Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:276621 |
Dravet Syndrome |
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Pallor |
ORPHA:33069 |
Omenn Syndrome |
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Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Orthostatic Hypotension 2 |
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Anemia |
OMIM:618182 |
Kcnq2-Related Epileptic Encephalopathy |
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Facial erythema, Pallor |
ORPHA:439218 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Glycogen Storage Disease Xii |
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Nonspherocytic hemolytic anemia, Cholelithiasis, Hepatomegaly, Splenomegaly, Normocytic anemia, C... |
OMIM:611881 |
Gamma-Heavy Chain Disease |
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Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... |
ORPHA:100026 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
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Pallor |
ORPHA:13 |
Idiopathic Aplastic Anemia |
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Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:88 |
Refractory Anemia With Excess Blasts |
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Abnormal bleeding, Palpitations, Anemic pallor, Retinal hemorrhage |
ORPHA:86839 |
Fanconi Anemia, Complementation Group V |
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Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Von Hippel-Lindau Disease |
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Neoplasm of the pancreas, Abnormal left ventricular function, Pallor, Palpitations, Arrhythmia, M... |
ORPHA:892 |
Hereditary Pheochromocytoma-Paraganglioma |
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Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:29072 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
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Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogen... |
ORPHA:456312 |
Fanconi Anemia, Complementation Group I |
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Pallor |
OMIM:609053 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia |
OMIM:616959 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly |
OMIM:618398 |
Sitosterolemia 1 |
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Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Giant platele... |
OMIM:210250 |
Aregenerative Anemia |
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Abnormal bleeding, Pallor, Bruising susceptibility |
ORPHA:101096 |
Cone-Rod Dystrophy 8 |
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Pallor |
OMIM:605549 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Imerslund-Gräsbeck Syndrome |
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Abnormal bleeding, Tachycardia, Pallor |
ORPHA:35858 |
Rare Circulatory System Disease |
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Intermittent claudication, Pallor |
ORPHA:98028 |
Interstitial Lung And Liver Disease |
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Hepatomegaly, Hepatic failure, Cirrhosis, Elevated circulating aspartate aminotransferase concent... |
OMIM:615486 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
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Abnormal bleeding, Anemic pallor, Hematochezia |
ORPHA:329971 |
Developmental And Epileptic Encephalopathy 50 |
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Anemia, Anisopoikilocytosis, Acanthocytosis, Schistocytosis |
OMIM:616457 |
Autosomal Recessive Malignant Osteopetrosis |
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Hepatomegaly, Bruising susceptibility, Splenomegaly, Pallor, Pulmonary arterial hypertension |
ORPHA:667 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Melena, Subarachnoid hemorrhage, Hematochezia, Lip telangiectasia, Facial telangiectasia, Fingerp... |
OMIM:600376 |
Multiple Endocrine Neoplasia Type 2 |
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Hypertension associated with pheochromocytoma, Neoplasm of the liver, Pallor, Palpitations, Hyper... |
ORPHA:653 |
Childhood Absence Epilepsy |
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Pallor |
ORPHA:64280 |
Plummer-Vinson Syndrome |
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Pallor |
ORPHA:54028 |
Sheehan Syndrome |
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Pallor, Orthostatic hypotension, Palpitations, Dry skin, Bradycardia |
ORPHA:91355 |
Myopathy, Mitochondrial, And Ataxia |
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Pallor |
OMIM:617675 |
Pituitary Apoplexy |
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Pallor, Hypertension, Hypotension |
ORPHA:95613 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Melena, Telangiectasia of the skin, Hemothorax, Pulmonary hemorrhage, Subarachnoid hemorrhage, He... |
OMIM:187300 |
Non-Functioning Pituitary Adenoma |
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Pallor, Hypotension |
ORPHA:91349 |
Hereditary Folate Malabsorption |
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Pallor |
ORPHA:90045 |
Adenohypophysitis |
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Pallor, Orthostatic hypotension |
ORPHA:95512 |
Alternating Hemiplegia Of Childhood |
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Abnormal T-wave, Pallor, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy |
ORPHA:2131 |
Diaphanospondylodysostosis |
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Abnormal liver lobulation |
OMIM:608022 |
Panhypophysitis |
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Pallor, Orthostatic hypotension |
ORPHA:95513 |
Prolactinoma |
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Pallor, Hypotension |
ORPHA:2965 |
Degcags Syndrome |
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Hepatomegaly, Pulmonic stenosis, Pallor, Abnormal spleen morphology, Hepatosplenomegaly, Tachycar... |
OMIM:619488 |
Incontinentia Pigmenti |
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Pallor, Erythema, Retinal hemorrhage |
OMIM:308300 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
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Hepatic arteriovenous malformation, Mitral regurgitation, Hematochezia, Telangiectasia, Epistaxis |
OMIM:175050 |
Fanconi Anemia, Complementation Group D2 |
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Annular pancreas, Anemic pallor, Patent ductus arteriosus, Bruising susceptibility |
OMIM:227646 |
Infection-Related Hemolytic Uremic Syndrome |
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Pancreatitis, Pallor, Myocarditis, Hypertensive crisis, Hypertension |
ORPHA:544482 |
Tsh-Secreting Pituitary Adenoma |
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Supraventricular arrhythmia, Pallor, Palpitations, Ventricular arrhythmia, Hypotension, Hypertens... |
ORPHA:91347 |
Mosaic Trisomy 9 |
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Abnormal liver lobulation, Patent ductus arteriosus, Asplenia |
ORPHA:99776 |
Diamond-Blackfan Anemia 1 |
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Tricuspid stenosis, Pallor, Congestive heart failure, Elevated red cell adenosine deaminase level |
OMIM:105650 |
Liver Disease, Severe Congenital |
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Exocrine pancreatic insufficiency, Abnormal left ventricular function, Hepatomegaly, Hepatic fail... |
OMIM:619991 |
Fanconi Anemia, Complementation Group E |
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Anemic pallor, Bruising susceptibility |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
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Anemic pallor, Bruising susceptibility |
OMIM:227650 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Tricuspid regurgitation, Pallor, Mitral regurgitation, Right ventricular failure, T... |
ORPHA:99125 |
Fanconi Anemia, Complementation Group C |
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Anemic pallor, Bruising susceptibility |
OMIM:227645 |
Esophageal Atresia |
|
Pallor |
ORPHA:1199 |
Blackfan-Diamond Anemia |
|
Pallor, Elevated red cell adenosine deaminase level |
ORPHA:124 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Abnormal onset of bleeding, Hepatic arteriovenous malformation, Mucosal... |
ORPHA:2929 |
Sarcoidosis |
|
Decreased liver function, Hepatomegaly, Hepatic failure, Arrhythmia, Ventricular tachycardia, Por... |
ORPHA:797 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Goodpasture Syndrome |
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Pallor, Pulmonary hemorrhage |
OMIM:233450 |
Pmm2-Cdg |
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Angina pectoris, Intracranial hemorrhage, Elevated hepatic transaminase, Hepatic fibrosis, Perica... |
ORPHA:79318 |