Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Pallor, Abnormal bone structure |
ORPHA:46532 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... |
OMIM:615631 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Anemia of ina... |
OMIM:224120 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Short stature |
ORPHA:66518 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Increased bone mineral density, Petechiae, Recurrent fractures, Sp... |
OMIM:611490 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Pallor, Poikilocytos... |
OMIM:615234 |
Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis |
ORPHA:33574 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Intrauterine growth retardation, Anemia |
ORPHA:2802 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Short stature, Abnormal hemoglobin, Anemia, Decreased skull ossification, Thrombocytopenia |
ORPHA:3319 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Reduced platelet ... |
OMIM:314050 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Short stature, Rickets, Hepatosplenomegaly, Decreased mean cor... |
OMIM:611590 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... |
OMIM:601775 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal... |
ORPHA:232 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Intrauterine growth retardation, Thrombocytopenia |
OMIM:615010 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:230450 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytope... |
OMIM:235400 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... |
ORPHA:288 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Porphyria, Acute Hepatic |
|
Hemolytic anemia |
OMIM:612740 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Reduce... |
ORPHA:848 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:231900 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombo... |
ORPHA:824 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Growth delay, ... |
OMIM:616084 |
Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ... |
OMIM:274150 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Normochromic anemia, Hypertriglyceridemia |
OMIM:245900 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor |
ORPHA:56425 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia |
OMIM:618660 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Xanthelasma, Stomato... |
OMIM:210250 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis |
OMIM:300653 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia |
ORPHA:163596 |
Congenital Atransferrinemia |
|
Abnormality of the pancreas, Anemia, Arthritis |
ORPHA:1195 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Developmental And Epileptic Encephalopathy 50 |
|
Schistocytosis, Anisopoikilocytosis, Anemia, Acanthocytosis |
OMIM:616457 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Short stature, Splenomegaly, Spherocytosis, Growth delay |
ORPHA:251066 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Pet... |
OMIM:300367 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Abnormal cortical bone morphology, Craniofacial hyperostosis, Anemia |
ORPHA:1802 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Limitation of joint mobility, Leukopenia,... |
ORPHA:108 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia |
OMIM:615909 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, ... |
ORPHA:98870 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth delay, Decreased mean corpuscu... |
ORPHA:300298 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Lymphadenop... |
ORPHA:507 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Erythema, Cholelithiasis, Hypertriglyceridemia |
OMIM:177000 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Sideroblastic anemia, Pallor, Hepatomegaly |
OMIM:613561 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra... |
OMIM:232800 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Bone-marrow foam cells, Thrombocytopenia, Sple... |
OMIM:607616 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Anemia |
ORPHA:100024 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Growth delay... |
OMIM:614034 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Lathosterolosis |
|
Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic cholestasis, S... |
OMIM:607330 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Rosaï-Dorfman Disease |
|
Erythema, Osteolysis, Anemia, Lymphadenopathy |
ORPHA:158014 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
Diamond-Blackfan Anemia 9 |
|
Growth delay, Anemia |
OMIM:613308 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Pallor, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Hyperlysinemia, Type I |
|
Anemia |
OMIM:238700 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocyt... |
OMIM:603552 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemolytic anemia, Pa... |
ORPHA:90038 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Hemolytic Anemia, Congenital, X-Linked |
|
Hemolytic anemia, Jaundice |
OMIM:301015 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Growth delay, Ascites, Anemia |
ORPHA:100025 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Short stature, Anemia, Purpura |
ORPHA:3204 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Ecchym... |
OMIM:153670 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hepatomegaly, Anemia of inadequate produc... |
ORPHA:231214 |
Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia |
OMIM:615085 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia |
OMIM:612527 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Leukopenia, Arthritis |
OMIM:152700 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... |
OMIM:613839 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Ascites, Anemia, Intrauterine growth retardation |
ORPHA:295 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, Chronic noninfectious lymphad... |
OMIM:603909 |
Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... |
OMIM:206100 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Acanthocytosis |
OMIM:607236 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Splenomegaly, Leukocytosis, Hepatosplenome... |
OMIM:612840 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Joint laxity, Microcytic anemia, Growth delay, Pallor,... |
OMIM:600462 |
Fanconi Anemia, Complementation Group G |
|
Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Anemia, Autoimmune Hemolytic |
|
Autoimmune hemolytic anemia |
OMIM:205700 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor |
ORPHA:90037 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Skin ulcer, An... |
ORPHA:231226 |
Fibrodysplasia Ossificans Progressiva |
|
Limitation of joint mobility, Ectopic ossification in ligament tissue, Ectopic ossification in mu... |
ORPHA:337 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Hepatomegaly, Recurrent fractures, Splenomegaly, Anemia |
OMIM:618107 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemoph... |
OMIM:613101 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Cholestasis, Anemia,... |
ORPHA:398124 |
Glycoprotein Storage Disease |
|
Splenomegaly, Gout |
OMIM:232900 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Stomatocytosis |
OMIM:268150 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Short stature, Splenomegaly, Lymphadenitis, Recurrent tonsi... |
OMIM:618935 |
Majeed Syndrome |
|
Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatospl... |
OMIM:609628 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... |
ORPHA:1959 |
Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthri... |
ORPHA:37748 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Hemolytic anemia |
OMIM:615399 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Petechiae, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, H... |
ORPHA:2330 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, C... |
OMIM:612714 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat... |
OMIM:618278 |
Bone Marrow Failure Syndrome 4 |
|
Short stature, Rhizomelia, Anemia, Leukopenia, Bone marrow hypocellularity, Dry skin, Thrombocyto... |
OMIM:618116 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Growth delay, Stomatocytosis |
OMIM:608885 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Hypobetalipoproteinemia, Familial, 1 |
|
Hypertriglyceridemia, Hypocholesterolemia, Steatorrhea, Acanthocytosis |
OMIM:615558 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Hemolytic anemia |
OMIM:612300 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
White scaling skin, Acanthocytosis |
OMIM:604777 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Arthritis, Coombs-... |
OMIM:304790 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor |
ORPHA:90033 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Microcytic anemia, Elbow flexion contracture, Pyoderma gangrenosum, Hepatosplenomeg... |
OMIM:604416 |
Abetalipoproteinemia |
|
Acanthocytosis |
OMIM:200100 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Growth delay, Hemolytic anemia |
ORPHA:57 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Growth delay, Hypocholesterolemia, Increased h... |
ORPHA:71 |
Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Anemia |
OMIM:610090 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Lcat Deficiency |
|
Hemolytic anemia, Hypertriglyceridemia |
ORPHA:650 |
Galactosemia I |
|
Hemolytic anemia, Cirrhosis, Hepatomegaly |
OMIM:230400 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Normochromic anemia, Chol... |
OMIM:611881 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Anemia, Petechiae, Purpura |
OMIM:620296 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Bone marrow hypocellularit... |
OMIM:616435 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Growth delay, Methemoglobinemia, Polycythemia |
OMIM:250800 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Growth delay, Megaloblastic anemia |
OMIM:243320 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom... |
ORPHA:210110 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia, Purpura |
OMIM:614514 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Cirrhosis, Premature skin wrinkling, Thrombocytopenia |
ORPHA:101028 |
Ollier Disease |
|
Joint stiffness, Osteolysis, Skin ulcer, Lymphangioma, Anemia |
ORPHA:296 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Isolated Agammaglobulinemia |
|
Short stature, Abnormality of the tonsils, Abnormality of neutrophils, Thrombocytopenia, Abnormal... |
ORPHA:229717 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Growth delay, Steatorrhea, Ascites, Anemia |
ORPHA:75233 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... |
ORPHA:86839 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor |
ORPHA:99931 |
Atransferrinemia |
|
Abnormality of the liver, Hypochromic anemia |
OMIM:209300 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Intrauterine growth retardation, A... |
ORPHA:858 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Joint stiffness, Splenomegaly, Mediastinal lymphadenopathy, Osteo... |
ORPHA:809 |
Mcleod Syndrome |
|
Hepatomegaly, Splenomegaly, Acanthocytosis |
OMIM:300842 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor, Anemia |
OMIM:246450 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Growth delay, Anemia |
ORPHA:79402 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... |
OMIM:615512 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia, Hepatomegaly |
OMIM:619175 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia |
ORPHA:90045 |
Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Skin ulcer, Leukopenia, Aplasia/Hypoplasia of the thymus, Anemia |
ORPHA:33355 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Ascites, Anemia |
ORPHA:1046 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hypertension, Osteoporosis, Dry skin, ... |
OMIM:619487 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612926 |
Paroxysmal Cold Hemoglobinuria |
|
Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia |
ORPHA:90035 |
Potocki-Shaffer Syndrome |
|
Decreased skull ossification, Anemia, Delayed puberty |
ORPHA:52022 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Short stature, Postnatal growth retardation, Jaundice, Hepatospleno... |
ORPHA:168577 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia, Delayed puberty |
ORPHA:2598 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Hemophagocytosis, Anemia |
OMIM:618398 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
Choreoacanthocytosis |
|
Acanthocytosis |
OMIM:200150 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:266120 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Absence of lymph node germinal center, Autoimmune thr... |
OMIM:608184 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Growth delay, Arthritis, Anemia |
OMIM:607115 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Ecchymosis, Th... |
ORPHA:88 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ... |
ORPHA:1572 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Osteolysis, Ch... |
OMIM:263700 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Growth delay, Iron deficiency anemia, Rickets, Osteomalacia |
ORPHA:89937 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612925 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Thrombocytopenia 5 |
|
Petechiae, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Anemia |
ORPHA:28 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Growth delay, Dry skin, Anemia |
OMIM:614450 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Myasthenia Gravis |
|
Hemolytic anemia, Pure red cell aplasia, Hepatitis, Abnormal thymus morphology, Rheumatoid arthritis |
ORPHA:589 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia, Limite... |
OMIM:616738 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Short stature, Recurrent fractures, Hepatomegaly |
ORPHA:417 |
Amme Complex |
|
Intrauterine growth retardation, Elliptocytosis, Joint hypermobility |
OMIM:300194 |
Lesch-Nyhan Syndrome |
|
Gout, Anemia |
ORPHA:510 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Short stature, Joint stiffness, Postnatal growth retardation, Splenomegaly, Reduced... |
OMIM:620210 |
Hemochromatosis, Type 3 |
|
Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Purpura |
OMIM:604250 |
Tempi Syndrome |
|
Ascites, Increased hematocrit, Polycythemia, Facial erythema |
ORPHA:284227 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys... |
ORPHA:79277 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor, Anemia |
ORPHA:329971 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Short Stature With Microcephaly And Distinctive Facies |
|
Osteopenia, Severe short stature, Anisopoikilocytosis, Anemia |
OMIM:615789 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Acanthocytosis, Flexion contracture, Elbow flexion contracture, Growth delay, ... |
OMIM:618947 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Osteopetrosis, ... |
OMIM:620366 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
Tufted Angioma |
|
Anemia, Petechiae, Thrombocytopenia, Purpura |
ORPHA:1063 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... |
OMIM:231095 |
Tyrosinemia Type 1 |
|
Splenomegaly, Rickets of the lower limbs, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... |
OMIM:226990 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Fanconi Anemia, Complementation Group V |
|
Short stature, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
OMIM:617243 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Short stature, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocy... |
OMIM:619151 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Intrauterine growth retardation, Th... |
OMIM:610333 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... |
OMIM:620282 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Short stature, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocyto... |
OMIM:616050 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Decreased circulating cortisol level, Anemia, Cardiomegaly |
OMIM:618838 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Osteopenia, Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Bone marrow hypocellulari... |
OMIM:614742 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Short stature, Acanthocytosis, Abnormal erythrocyte morphology, Postnatal growth retardation, Hyp... |
ORPHA:96180 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Oslam Syndrome |
|
Radioulnar synostosis, Anemia |
OMIM:165660 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Stillbi... |
ORPHA:85212 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomega... |
ORPHA:77259 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Osteoarthritis, Cirrhosis, Hepatic steatosis, Anemia |
OMIM:606069 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Ascites, Anemia |
OMIM:603278 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Thrombocytopenia, Erythema... |
OMIM:557000 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Short stature, Growth delay, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Anemia, Intrauterine growth retardation, Thr... |
ORPHA:290 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth d... |
OMIM:301078 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Intrauterine growth retardation, Anemia, Cardiomegaly |
OMIM:620135 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Bone cyst, Anemia |
ORPHA:2668 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Ascites, Anemia, Hepatomegaly |
ORPHA:2123 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Gout, Neutropenia, Intrauterine growth retardation, Anemia |
OMIM:617056 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Hepatocellular carcinoma, Thrombocyto... |
ORPHA:158057 |
Sepsis In Premature Infants |
|
Hepatomegaly, Petechiae, Splenomegaly, Leukocytosis, Jaundice, Anemia, Pallor, Neutropenia, Throm... |
ORPHA:90051 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Anemia |
ORPHA:2325 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Increased bone mineral density, Short stature, Splenomegaly, Abnormal cortical bone... |
ORPHA:2204 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density |
ORPHA:172 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Persistence of hemoglobin F, Growth delay, Increased mean corpuscular volume, ... |
OMIM:612561 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Hepatic st... |
OMIM:615438 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Abetalipoproteinemia |
|
Osteopenia, Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocytosis, Steatorrhea, Hepatic fib... |
ORPHA:14 |
Catastrophic Antiphospholipid Syndrome |
|
Skin ulcer, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Throm... |
ORPHA:464343 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Pyoderma gangrenosum, Lympha... |
OMIM:150550 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Thrombocytopenia |
OMIM:231000 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Anemia, Growth delay, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Senior-Loken Syndrome 4 |
|
Anemia |
OMIM:606996 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Dry skin, Abnormal lymphocyte ... |
ORPHA:2584 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Short stature, Recurrent fractures, Craniosynostosis, Delayed puberty, Episodic hemolytic anemia,... |
ORPHA:251004 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Short stature, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosi... |
OMIM:257200 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Growth del... |
ORPHA:1451 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Throm... |
ORPHA:158029 |
Familial Benign Copper Deficiency |
|
Short stature, Anemia |
ORPHA:1551 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... |
ORPHA:98850 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosp... |
OMIM:259730 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Limitation of joint mobility, Short stature, Anemia |
ORPHA:1192 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Postnatal growth retardation, S... |
ORPHA:699 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Petechiae, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... |
OMIM:619463 |
Anti-Glomerular Basement Membrane Disease |
|
Arthritis, Anemia, Purpura |
ORPHA:375 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Postnatal growth retardation, J... |
ORPHA:79303 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... |
OMIM:615513 |
Hypophosphatasia |
|
Craniosynostosis, Short stature, Recurrent fractures, Anemia |
ORPHA:436 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Pallo... |
ORPHA:33226 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Sple... |
OMIM:259700 |
Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Erythema, Neutropenia, Lymphopenia, Joint hypermobility |
OMIM:615816 |
Galactose Epimerase Deficiency |
|
Growth delay, Splenomegaly, Jaundice, Hepatomegaly |
ORPHA:79238 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Pgm3-Cdg |
|
Hemolytic anemia, Osteomyelitis, Abnormal proportion of CD8-positive T cells, Eosinophilia, Short... |
ORPHA:443811 |
Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocy... |
ORPHA:158061 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Erythema, Lymphaden... |
OMIM:619183 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractures, Mandibular oste... |
ORPHA:53 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Hepatitis, Hemop... |
OMIM:300635 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta... |
OMIM:278000 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly |
OMIM:611721 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Flexion contracture, HbH hemoglobin, Short stature, Microcytic anemia |
ORPHA:98791 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Prolonged neonatal jaundice |
ORPHA:529808 |
C1Q Deficiency 2 |
|
Arthritis, Anemia, Facial erythema |
OMIM:620321 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Prolonged neonatal jaundice |
ORPHA:529799 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Septic ar... |
OMIM:617780 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Intrauterine growth retardation, Decreased circulating cortisol level, Anemia |
OMIM:618835 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Dry skin, Lymphadenopathy, Abnormal lymph... |
ORPHA:39041 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Intrauterine growth retardation, Decreased circulating cortisol level, Anemia |
OMIM:618839 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Short stature, Camptodactyly of finger, Splenomegaly, Arthritis, Delayed puberty, A... |
ORPHA:575 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... |
ORPHA:64743 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Splenom... |
OMIM:211600 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Intrauterine growth retardation, Joint contracture |
OMIM:608540 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Short stature, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thr... |
OMIM:600901 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Anemia, Arthritis, Cirrhosis, Acute hepatitis, H... |
ORPHA:905 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Pathologic fracture, Thrombocyto... |
OMIM:230800 |
Junctional Epidermolysis Bullosa Inversa |
|
Growth delay, Anemia |
ORPHA:79405 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Lymphadenopathy,... |
ORPHA:47612 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy |
ORPHA:69077 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Short stature, Anemia |
OMIM:226670 |
Atelis Syndrome 1 |
|
Leukopenia, Thrombocytopenia, Dry skin, Anemia |
OMIM:620184 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt... |
ORPHA:79477 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab... |
ORPHA:54251 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent fractures, Craniosynostosis, Splenomegaly, Lymphadenopathy, Growth delay,... |
ORPHA:667 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Short stature, Anemic pallor, Flexion contracture, Reticulocytopenia, Anemia, Bone ... |
OMIM:227645 |
Coach Syndrome 3 |
|
Portal fibrosis, Anemia |
OMIM:619113 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphadenopathy, Leukopenia, Ascites, Arthritis, Microangiopathic hemolytic anemia, Lymphopenia, ... |
ORPHA:93552 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Short stature, Steatorrhea, Persistence of he... |
OMIM:260400 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor, Osteoporosis |
ORPHA:2786 |
Dermotrichic Syndrome |
|
Proportionate short stature, Anemia |
ORPHA:99688 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Petechiae, Microcytic anemia, Thrombocytopenia,... |
ORPHA:906 |
Bone Marrow Failure Syndrome 5 |
|
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Anemia |
OMIM:618165 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia |
ORPHA:27 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Short stature, Fused cervical vertebrae |
ORPHA:2522 |
Essential Thrombocythemia |
|
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel... |
ORPHA:98848 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... |
ORPHA:244242 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis |
OMIM:620010 |
Wilson Disease |
|
Hemolytic anemia, Hepatomegaly, Osteomalacia, Joint hypermobility, Splenomegaly, Atypical or prol... |
OMIM:277900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia |
OMIM:619046 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Short stature, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thr... |
OMIM:227650 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Isolated Sedoheptulokinase Deficiency |
|
Short stature, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Hypochromic micr... |
ORPHA:440713 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Flexion contracture, Lymphadenopathy, Anemia, A... |
OMIM:617591 |
Prolidase Deficiency |
|
Hepatomegaly, Petechiae, Splenomegaly, Skin ulcer, Anemia, Prolonged neonatal jaundice, Thrombocy... |
OMIM:170100 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis, Hypercholes... |
OMIM:619868 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Short stature, Postnatal growth retardation, Osteoporosis, Rickets, Steatorrhe... |
OMIM:212750 |
X-Linked Agammaglobulinemia |
|
Osteomyelitis, Short stature, Abnormality of the tonsils, Abnormality of the lymphatic system, He... |
ORPHA:47 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Short stature, Joint hypermobility |
OMIM:617101 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Growth delay, Anemia |
ORPHA:79406 |
Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Anemia, Neutropenia, Thrombocytopenia |
OMIM:617475 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Short stature, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytop... |
ORPHA:124 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Rickets, Ac... |
OMIM:607765 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
Immunodeficiency 54 |
|
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Intraut... |
OMIM:609981 |
Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splen... |
ORPHA:77297 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
Proteus Syndrome |
|
Splenomegaly, Facial hyperostosis, Calvarial hyperostosis, Lymphangioma, Mandibular hyperostosis,... |
OMIM:176920 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hyperplasia |
ORPHA:95159 |
Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... |
OMIM:301082 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Osteoporosis, Cirrhosis, Neonata... |
ORPHA:79301 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Arthritis, Lymphadenopathy |
OMIM:611762 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Pyoderma gangrenosum, Thrombocytopenia |
OMIM:616576 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Splenomegaly, Hepatiti... |
OMIM:615846 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Redundant neck skin, Rhizomelia, Joint hyperflexibility, Severe short-limb dwarfism... |
ORPHA:1842 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Anemia |
OMIM:613092 |
Lathosterolosis |
|
Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Intrau... |
ORPHA:46059 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep... |
OMIM:606003 |
Tularemia |
|
Mediastinal lymphadenopathy, Leukocytosis, Abnormal nasopharyngeal adenoid morphology, Cervical l... |
ORPHA:3392 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Short stature, Osteomalacia, Rickets, Reduced bone mineral density, Growth dela... |
ORPHA:18 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Increased bone mineral d... |
OMIM:259720 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Short stature, Anemia, Excessive wrinkled skin, Bone marrow hypoce... |
ORPHA:3322 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
American Trypanosomiasis |
|
Splenomegaly, Pallor, Lymphadenopathy, Hepatomegaly |
ORPHA:3386 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Petechiae, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, C... |
ORPHA:540 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Growth delay, Anemia |
ORPHA:79411 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Erythema, Cirrhosis, Microcytic anemia |
ORPHA:79278 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Galactosemia Iii |
|
Splenomegaly, Jaundice, Hepatomegaly |
OMIM:230350 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... |
ORPHA:447 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Sp... |
OMIM:228000 |
Fanconi Anemia, Complementation Group R |
|
Growth delay, Bone marrow hypocellularity, Anemia, Radial dysplasia |
OMIM:617244 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short stature, Thrombocytopenia, Reticulocytopenia, Dry skin, Leukopenia, Rhizomelic arm shorteni... |
ORPHA:508542 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Hepatosplenomegaly, Hypercholest... |
OMIM:612526 |
Shigellosis |
|
Leukocytosis, Peritonitis, Cholestasis, Arthritis, Microangiopathic hemolytic anemia, Splenic abs... |
ORPHA:810 |
Kenny-Caffey Syndrome, Type 1 |
|
Proportionate short stature, Birth length less than 3rd percentile, Intrauterine growth retardati... |
OMIM:244460 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... |
OMIM:617021 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumulation in hepatocytes, Leuk... |
ORPHA:20 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Fused cervical vertebrae, Bone marrow hypocellularity, Pallor, Neutropenia, Intrau... |
OMIM:609053 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat... |
ORPHA:83469 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:86893 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cholestasis, Anemia, Camptodactyly, Neonatal death, Intrauterine growth retardation... |
OMIM:608104 |
Weismann-Netter Syndrome |
|
Abnormal cortical bone morphology, Severe short stature, Anemia |
ORPHA:3344 |
Hydatidiform Mole |
|
Anemia |
ORPHA:99927 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... |
ORPHA:31150 |
Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum, Anemia |
OMIM:608068 |
Bazex Syndrome |
|
Scaling skin, Anemia |
ORPHA:166113 |
Copper Deficiency, Familial Benign |
|
Anemia |
OMIM:121270 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites |
OMIM:269920 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Thrombocytop... |
ORPHA:3260 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Elliptocytosis |
ORPHA:86818 |
Dermatitis Herpetiformis |
|
Skin vesicle, Erythema, Recurrent fractures, Microcytic anemia |
ORPHA:1656 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Idiopathic Pulmonary Arterial Hypertension |
|
Chronic hemolytic anemia, Right ventricular hypertrophy |
ORPHA:275766 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Fractures of the long bones, Abnormality of the lymphatic system,... |
ORPHA:464329 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Short stature, Reticulocytopenia, Growth delay, Steroid-responsive anemia, Anemia |
OMIM:613309 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Adenohypophysitis |
|
Normochromic anemia, Decreased circulating cortisol level, Pallor |
ORPHA:95512 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... |
ORPHA:83471 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly, Rhizomelia, Short stature, Disproportionate short-trunk short stature |
OMIM:602271 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Growth delay, Iron deficiency anemia, Steatorrhea, Exocrine ... |
ORPHA:309031 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Postnatal growth retardation, Splenomegaly, Os... |
ORPHA:79240 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Growth delay, Dry skin |
OMIM:617388 |
Gaucher Disease Type 2 |
|
Splenomegaly, Flexion contracture, Hepatomegaly |
ORPHA:77260 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids |
OMIM:619769 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Acanthocytosis, Necrolytic migratory erythema, Intrahepat... |
ORPHA:97280 |
Abcd Syndrome |
|
Neonatal death, Polycythemia |
OMIM:600501 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Abnormal erythrocyte enzyme level, Splenomegal... |
ORPHA:264580 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... |
OMIM:308240 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Neutropenia in presence ... |
OMIM:615952 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H... |
OMIM:615122 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Short stature, Recurrent fractures, Enlarged tonsils, Anemia, Leukope... |
ORPHA:2785 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Increased hepatic glycogen content |
OMIM:261750 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Sialidosis Type 2 |
|
Hepatomegaly, Short stature, Splenomegaly, Flexion contracture, Osteoporosis, Ascites |
ORPHA:87876 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Growth delay, Hypercholesterolemia |
OMIM:306000 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Autoimmune hemolytic anemia, Impaired neutrophil ch... |
OMIM:619374 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Mild postnatal growth retardation, Joint stiffness, Flexion contracture, Knee osteoarthritis, Oli... |
ORPHA:85408 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Reticulocytopenia, Persistence o... |
OMIM:105650 |
Cronkhite-Canada Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:2930 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Short stature, Osteoporosis, Anemia, Neutropenia, Pancreatitis, Throm... |
OMIM:606054 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia |
ORPHA:75234 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Anemia |
OMIM:611489 |
Hemochromatosis, Type 5 |
|
Anemia, Elevated hepatic iron concentration |
OMIM:615517 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... |
OMIM:616828 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Lymphadenopathy, Leukopenia, Arthritis, Thrombocytopenia |
ORPHA:536 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Griscelli Syndrome |
|
Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymph... |
ORPHA:381 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Arthritis, B lymphocytopenia |
ORPHA:397596 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia |
ORPHA:3405 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Gray Platelet Syndrome |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules |
OMIM:139090 |
Panhypophysitis |
|
Normochromic anemia, Decreased circulating cortisol level, Pallor |
ORPHA:95513 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Anemia |
ORPHA:30 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Joint hypermobility, Pancre... |
OMIM:617052 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Abnormal T cell subset distributi... |
ORPHA:158048 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, In... |
ORPHA:90041 |
Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Short stature, Lymphadenopathy |
OMIM:607271 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Growth delay, Steatorrhea, Cholelithiasis, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Petechiae, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neutropenia, Ecchymos... |
ORPHA:520 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Short stature, Abnormality of the tonsils, Splenomegaly, Limitation of joint mobility |
ORPHA:93476 |
Pituitary Apoplexy |
|
Normochromic anemia, Increased circulating cortisol level, Pallor |
ORPHA:95613 |
3-Methylglutaconic Aciduria, Type V |
|
Normochromic microcytic anemia, Microvesicular hepatic steatosis, Postnatal growth retardation, I... |
OMIM:610198 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Leukocytosis, Steatorrhea, Ascites, Anemia |
ORPHA:2070 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Growth delay, Iron deficiency anemia, Thrombocytosis, Intestinal lymphangiectasia, ... |
OMIM:226300 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Intrauterine growth retardation, HbH hemoglobin, Short stature, Prolonged neonatal jaundice |
ORPHA:423479 |
Drug-Induced Lupus Erythematosus |
|
Thrombocytopenia, Petechiae, Anemia |
ORPHA:231111 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, ... |
OMIM:267700 |
Roifman Syndrome |
|
Hepatomegaly, Hip contracture, Short stature, Eosinophilia, Postnatal growth retardation, Splenom... |
OMIM:616651 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Osteoporosis, Abnormality of the l... |
ORPHA:2169 |
Neuraminidase Deficiency |
|
Hepatomegaly, Short stature, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymph... |
OMIM:256550 |
Pfapa Syndrome |
|
Splenomegaly, Arthritis, Lymphadenopathy, Hepatomegaly |
ORPHA:42642 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ... |
ORPHA:536516 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Aceruloplasminemia |
|
Anemia |
OMIM:604290 |
Mevalonic Aciduria |
|
Splenomegaly, Short stature |
ORPHA:29 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Petechiae, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Neonatal death, ... |
OMIM:608013 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Growth delay, Osteopetrosis, Anemia |
OMIM:612301 |
Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Leukocytosis, Pallor, Hepatomegaly |
ORPHA:134 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, Splenomegaly, Growth delay, Bil... |
OMIM:613027 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Craniofacial osteosclerosis, Osteolysis, Hyperostosis, Arthritis, Anemia |
ORPHA:324964 |
Solitary Rectal Ulcer Syndrome |
|
Anemia |
ORPHA:209964 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Osteopenia, Fractures of the long bones, Acanthocytosis |
ORPHA:157850 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Jaundice, Hepatosplenomegaly, Ane... |
OMIM:603553 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Alg8-Cdg |
|
Cutis laxa, Anemia, Camptodactyly, Intrauterine growth retardation, Premature skin wrinkling, Asc... |
ORPHA:79325 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Increased susceptibility to fractures, Decreased calvarial ossification, Stillb... |
OMIM:241500 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Short stature, Elliptocytosis, Joint hypermobility, Anemia |
OMIM:300990 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Skin ulcer, Reduced bone mineral density, Ascites |
ORPHA:834 |
Good Syndrome |
|
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Anemia, Aplasia/Hypoplasia o... |
ORPHA:169105 |
Castleman Disease |
|
Myelofibrosis, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal l... |
ORPHA:160 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Psor... |
OMIM:614700 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Splenomegaly, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly |
OMIM:616719 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia |
OMIM:614520 |
Recon Progeroid Syndrome |
|
Joint laxity, Short stature, Growth delay, Anemia, Scaling skin, Dry skin, Thrombocytopenia |
OMIM:620370 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Joint hypermobility, Splenomegaly, Cholestasis... |
OMIM:300972 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Short stature, Acute leukemia, Thrombocytopenia |
ORPHA:647 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Growth delay, Skin vesicle, Anemia |
ORPHA:79410 |
Hatipoglu Immunodeficiency Syndrome |
|
Pancytopenia, Proportionate short stature, Anemia, Intrauterine growth retardation, Dry skin, Pet... |
OMIM:620331 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Nephronophthisis 4 |
|
Growth delay, Anemia |
OMIM:606966 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Dry skin, Lymphadenopathy, Abnormal lymphocyte morphology |
ORPHA:3162 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Increased bone mineral density, Splenomegaly, Osteolysis, Increased s... |
ORPHA:77261 |
Fumarase Deficiency |
|
Intrahepatic cholestasis, Ascites, Polycythemia, Pallor |
OMIM:606812 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Follicular hyperplasia, Joint stiffness, Erythema, Paratracheal lymphadenopathy, Leukopenia, Thro... |
OMIM:615934 |
Hemochromatosis, Type 2A |
|
Splenomegaly, Arthritis, Cirrhosis, Hepatomegaly |
OMIM:602390 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Petechiae, Jaundice, Neutrophilia in presence of infection, Lymphad... |
ORPHA:99826 |
Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Anemia |
ORPHA:325 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Short stature, Anemic pallor, Annular pancreas, Reticulocytopenia, Anemia, Bone mar... |
OMIM:227646 |
Sheehan Syndrome |
|
Normochromic anemia, Dry skin, Decreased circulating cortisol level, Pallor |
ORPHA:91355 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Adult-Onset Still Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Erythema, He... |
ORPHA:829 |
Icf Syndrome |
|
Anemia, Lymphopenia, Short stature, Abnormality of neutrophils |
ORPHA:2268 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Short stature, Recurrent fractures, Splenomegaly, Osteoporosis, Cutis laxa, Anemia,... |
OMIM:222700 |
Immunodeficiency 36 With Lymphoproliferation |
|
Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growth delay, Increase... |
OMIM:616005 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Leukocytosis, Pallor, Septic arthritis, Pancreatitis, Thrombocytopenia |
ORPHA:544482 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Diamond-Blackfan Anemia 11 |
|
Short stature, Anemia of inadequate production, Radioulnar synostosis, Bone marrow hypocellularit... |
OMIM:614900 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Short stature, Postnatal growth retardation, Osteoporosis, Increased susceptibility t... |
OMIM:612199 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... |
OMIM:214500 |
Camurati-Engelmann Disease |
|
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... |
OMIM:131300 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Rheumatoid arthritis, Le... |
ORPHA:99867 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Short stature, Fluctuating splenomegaly, Fluctuating hepatomegaly,... |
OMIM:610377 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, Hepatomegaly |
ORPHA:276575 |
Mirage Syndrome |
|
Short stature, Petechiae, Radial club hand, Anemia, Leukopenia, Intrauterine growth retardation, ... |
OMIM:617053 |
Hyperparathyroidism, Neonatal Severe |
|
Splenomegaly, Recurrent fractures, Anemia, Hepatomegaly |
OMIM:239200 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Growth delay, Elevated hepatic iron concentration, Increase... |
OMIM:614946 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Osteopetrosis, Intrauterine growth retar... |
OMIM:618541 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276556 |
Pachydermoperiostosis |
|
Hepatomegaly, Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis... |
ORPHA:2796 |
Fanconi Anemia, Complementation Group S |
|
Short stature, Anemia |
OMIM:617883 |
Arteriosclerosis, Severe Juvenile |
|
Short stature, Anemia, Delayed puberty |
OMIM:208060 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Joint hypermobility, Splenomegaly, Microves... |
OMIM:619418 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestasis, Lymphadenopathy, Growth del... |
OMIM:615895 |
Fanconi Anemia, Complementation Group P |
|
Growth delay, Pancytopenia, Short stature, Anemia |
OMIM:613951 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276580 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Nephronophthisis 1 |
|
Growth delay, Anemia |
OMIM:256100 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Cholestasis, Growth delay, Cirrhosis, Intrauterine grow... |
OMIM:614576 |
Severe Hemophilia A |
|
Limb joint contracture, Limitation of joint mobility, Synovitis, Joint hemorrhage, Anemia |
ORPHA:169802 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Growth delay, Anemia |
ORPHA:79409 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly |
OMIM:240500 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251110 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Thrombocytopenia, Pancytopenia, Anemia |
OMIM:613845 |
Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Growth delay, Hypochromic microcytic anemia, Anemia |
OMIM:619147 |
Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Skin ulcer, Arthritis, ... |
ORPHA:91138 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Polycythemia, Cirrhosis |
OMIM:613280 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Osteoporosis, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular v... |
OMIM:127550 |
Nephronophthisis 11 |
|
Growth delay, Hepatic fibrosis, Anemia |
OMIM:613550 |
Mccune-Albright Syndrome |
|
Pancytopenia, Osteomalacia, Recurrent fractures, Primary hypercortisolism, Fibrous dysplasia of t... |
ORPHA:562 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:324575 |
Gaucher Disease, Type Ii |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:230900 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Abnormal lymphatic vessel morphology, Growth delay, Ascites, Decreased propo... |
ORPHA:90362 |
Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Short stature, Petechiae, Splenomegaly, Erythema, Prolonged neonatal jaundice, Thro... |
OMIM:225750 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia |
ORPHA:90060 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Skin ulcer, Hepatosp... |
OMIM:615688 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Myopathy With Lactic Acidosis, Hereditary |
|
Anemia, Sideroblastic anemia, Leukopenia |
OMIM:255125 |
Lead Poisoning |
|
Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Delayed pubert... |
ORPHA:330015 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Short stature, Portal hypertension, Ric... |
OMIM:613658 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Short stature, Abnormal hemoglobin, Joint stiffness, Flexion contracture, Anemia |
ORPHA:847 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Joint laxity, Macrocytic anemia, Abse... |
OMIM:250250 |
Tangier Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Left ventricular hypertrophy, Dry skin |
OMIM:205400 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Severe short stature, Osteomalacia, Recurrent fractures, Camptodactyly of finger, Joi... |
ORPHA:2176 |
Immunodeficiency 55 |
|
Absent natural killer cells, Short stature, Postnatal growth retardation, Dry skin, Lymphadenopat... |
OMIM:617827 |
Multiple Myeloma |
|
Osteopenia, Splenomegaly, Lymphadenopathy, Pathologic fracture, Anemia |
ORPHA:29073 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Neutrophilia, Osteomyelitis, Splenomegaly, Periostitis, Osteolysis, Fus... |
OMIM:612852 |
Sandifer Syndrome |
|
Anemia |
ORPHA:71272 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, Lymphopenia, Anemia, Reduced bone mineral density |
ORPHA:935 |
Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Short stature, Elevated hemoglobin A1c |
OMIM:616113 |
Attrv122I Amyloidosis |
|
Left ventricular hypertrophy, Anemia, Cardiomegaly |
ORPHA:85451 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Cyclic Vomiting Syndrome |
|
Growth delay, Pallor |
OMIM:500007 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrh... |
OMIM:601847 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Jaundice, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia |
OMIM:105600 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopath... |
ORPHA:379 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Growth delay, Flexion contracture, Anemia |
OMIM:226600 |
Stiff-Person Syndrome |
|
Anemia |
OMIM:184850 |
Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Microvesicular hepatic steatosis, Cholestasis, Reduced bone mineral density,... |
OMIM:619377 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Anemia, Leukopenia, Macrovesicular hepatic steat... |
OMIM:617303 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Fetal ascites, Leukocytosis, Hepatitis, Cholestasis, Anemia, Leuk... |
ORPHA:292 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Postnatal growth retardation, Growth delay, Cortical thickening of long bone diaph... |
ORPHA:93325 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pallor, Polycythemia |
ORPHA:892 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Severe short stature, Short stature, Thickened cortex of long bon... |
OMIM:127000 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly... |
OMIM:612541 |
Congenital Pulmonary Lymphangiectasia |
|
Growth delay, Splenomegaly, Ascites, Hepatomegaly |
ORPHA:2414 |
Q Fever |
|
Hepatomegaly, Osteomyelitis, Splenomegaly, Hepatitis, Hepatosplenomegaly, Anemia, Lymphadenopathy... |
ORPHA:781 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Short stature, Megaloblastic anemia, Anemia, Neutropenia, Thrombocyto... |
OMIM:277380 |
Livedoid Vasculopathy |
|
Pancytopenia, Leukocytosis, Skin ulcer, Macular purpura, Ecchymosis, Polycythemia, Anemia |
ORPHA:542643 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, P... |
ORPHA:811 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Petechiae |
OMIM:251290 |
Whipple Disease |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Anemia |
ORPHA:3452 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Ascites, Anemia |
OMIM:615758 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Joint stiffness, Cardiomegaly, Splenomegaly, Dense calvaria |
OMIM:252920 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Leukopenia, Bone marrow hypocellularity, Intrauterine growth retard... |
OMIM:615190 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m... |
OMIM:251880 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Short stature, Recurrent fractures, Abnormality of neutro... |
ORPHA:1775 |
Neuroblastoma, Susceptibility To, 1 |
|
Abdominal mass, Anemia |
OMIM:256700 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... |
ORPHA:760 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Hypophosphatemic rickets, Increased hepa... |
ORPHA:263455 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Short stature, Splenomegaly, Hyperlipidemia, Delayed puberty, ... |
OMIM:232220 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... |
ORPHA:284 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Tyrosinemia, Type I |
|
Hepatomegaly, Splenomegaly, Growth delay, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocel... |
OMIM:276700 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Oligoarthritis, Pyoderma gangrenosum, Chronic... |
ORPHA:3243 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Steatorrhea |
OMIM:235555 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Hepatomegaly, Splenomegaly, Cutis laxa, Lymphopenia |
OMIM:605309 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Petechiae, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, Ane... |
ORPHA:85450 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Follicular hyperplasia, Splen... |
OMIM:619381 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Aredyld Syndrome |
|
Craniofacial hyperostosis, Hepatomegaly, Short stature, Splenomegaly, Intrauterine growth retarda... |
ORPHA:1133 |
Rat-Bite Fever |
|
Abdominal aseptic abscess, Lymphadenitis, Oligoarthritis, Arthritis, Scaling skin, Septic arthrit... |
ORPHA:31205 |
Sarcoidosis |
|
Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Increased T cell count, Bone c... |
ORPHA:797 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251100 |
Dravet Syndrome |
|
Limited knee extension, Pallor |
ORPHA:33069 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... |
ORPHA:572 |
Incontinentia Pigmenti |
|
Short stature, Eosinophilia, Leukocytosis, Erythema, Pallor |
OMIM:308300 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Osteoporosis, Cirrhosis, Hepatocellular carcinoma, Ascites |
OMIM:235200 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Lymphadenopathy, Sclerosis of skull base, Thrombo... |
ORPHA:2905 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Juvenile rheumatoid arthritis, Lymphadenopathy, Hepatomegaly |
ORPHA:85414 |
Degcags Syndrome |
|
Osteopenia, Hepatomegaly, Pancytopenia, Craniosynostosis, Congenital hypoplastic anemia, Cholesta... |
OMIM:619488 |
Congenital Heart Block |
|
Intrauterine growth retardation, Pallor |
ORPHA:60041 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Craniosynostosis, Splenomegaly, Jaundice, Neutropenia in presence of anti-neutropil... |
ORPHA:525731 |
Pancreatic And Cerebellar Agenesis |
|
Joint stiffness, Flexion contracture, Severe intrauterine growth retardation, Pancreatic hypoplas... |
OMIM:609069 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Short stature, Portal hypertension, Hypersplenism, Splenomegaly, Hepa... |
OMIM:613385 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Postnatal growth retardation, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, ... |
OMIM:301040 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Anemia, Leukopenia, Bone marrow hypocellularity, Intrauterine growth retardation, ... |
OMIM:603467 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly |
ORPHA:71493 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Dense calvaria, Joint stiffness, Hepatomegaly |
OMIM:252900 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Acanthocytosis |
OMIM:234200 |
Carney Triad |
|
Mediastinal lymphadenopathy, Ascites, Anemia, Lymphadenopathy |
ORPHA:139411 |
Dyskeratosis Congenita, Digenic |
|
Intrauterine growth retardation, Short stature, Anemia |
OMIM:620040 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Severe short stature, Joint stiffness, Splenomegaly, Vacuolated lymphocytes, Intrau... |
OMIM:230500 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Short stature, Perianal erythema, Splenomegaly, Perioral erythema, Dry skin |
OMIM:201100 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Postnatal growth retardation, Growt... |
OMIM:147920 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Short stature, Autoimmune thrombocytopenia, Hyper... |
ORPHA:77293 |
Senior-Boichis Syndrome |
|
Portal hypertension, Malformation of the hepatic ductal plate, Congenital hepatic fibrosis, Chole... |
ORPHA:84081 |
Gaucher Disease |
|
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Short stature, Recurrent ... |
ORPHA:355 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Neutropenia ... |
ORPHA:391487 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly, Abnormally ossified vertebrae, Intrauterine growth retardation |
ORPHA:3035 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hepatic steatosis, Hepatomegaly, Short stature, Osteoporosis, Increased susceptibilit... |
ORPHA:79259 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Erythema, Lymp... |
ORPHA:50918 |
Poikiloderma With Neutropenia |
|
Joint laxity, Short stature, Joint stiffness, Splenomegaly, Growth delay, Leukopenia, Neutropenia |
OMIM:604173 |
Opsismodysplasia |
|
Hepatomegaly, Abnormally ossified vertebrae, Severe short stature, Joint stiffness, Splenomegaly |
ORPHA:2746 |
Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Liver abscess, Anemia |
ORPHA:67 |
Lymphatic Malformation 7 |
|
Ascites, Anemia |
OMIM:617300 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Short stature, Camptodactyly of finger, Joint stiffness, Splenomegaly, Contracture ... |
OMIM:607015 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepa... |
OMIM:618641 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Thin bony cortex |
OMIM:230600 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... |
OMIM:613812 |
Prolidase Deficiency |
|
Hepatomegaly, Splenomegaly, Erythema, Skin ulcer, Reduced bone mineral density, Dry skin |
ORPHA:742 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Hypersplenism, Thrombocytopenia, Leukocytosis, Spleno... |
ORPHA:1304 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Joint laxity, Hemolytic anemia, Hyperextensibility of the finger joints, Hip contracture, Portal ... |
OMIM:619503 |
Senior-Loken Syndrome 1 |
|
Anemia |
OMIM:266900 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatospleno... |
OMIM:608233 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Jaundice, Rickets |
OMIM:619232 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly... |
ORPHA:167 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... |
OMIM:257220 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Erythema, Hepatomegaly |
ORPHA:33577 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Craniosynostosis, Macronodular c... |
OMIM:620005 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul... |
ORPHA:309854 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia, Pancreatitis |
OMIM:207750 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Hypercholesterolemi... |
OMIM:238600 |
Choreoacanthocytosis |
|
Hepatomegaly, Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly, Arthritis |
ORPHA:2388 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
Syndromic Diarrhea |
|
Hepatomegaly, Short stature, Increased mean platelet volume, Splenomegaly, Dry skin, Abnormality ... |
ORPHA:84064 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire... |
OMIM:233710 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Splenomegaly, Craniofacial osteosclerosis, Limitation of joint mobility, Leukopenia... |
ORPHA:1328 |
Gastrointestinal Stromal Tumor |
|
Abnormality of the liver, Anemia |
ORPHA:44890 |
Scheie Syndrome |
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Splenomegaly, Limitation of joint mobility, Joint stiffness, Hepatomegaly |
ORPHA:93474 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Hypophosphatemic rickets, Short stature, Osteomalacia, Rickets |
OMIM:193100 |
Goodpasture Syndrome |
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Pallor, Anemia |
OMIM:233450 |
Irida Syndrome |
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Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Immunodeficiency 17 |
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Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire... |
OMIM:233690 |
Lysosomal Acid Lipase Deficiency |
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Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Microvesicular hepatic steatosis, Ja... |
ORPHA:275761 |
Juvenile Polyposis Syndrome |
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Anemia |
OMIM:174900 |
Caroli Disease |
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Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
Agammaglobulinemia, X-Linked |
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Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp... |
OMIM:300755 |
Blau Syndrome |
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Camptodactyly of finger, Splenomegaly, Limitation of joint mobility, Erythema, Synovitis, Lymphad... |
ORPHA:90340 |
Cogan Syndrome |
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Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia, Jaundice, Cholestasis, Hepatosplenomega... |
ORPHA:247598 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Hepatomegaly, Flexion contracture of finger, Short stature, Camptodactyly of finger, Cardiomegaly... |
OMIM:602782 |
Familial Tumoral Calcinosis |
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Hyperostosis, Splenomegaly, Erythema, Hepatomegaly |
ORPHA:53715 |
Erdheim-Chester Disease |
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Increased bone mineral density, Osteomyelitis, Retroperitoneal fibrosis, Osteolysis, Xanthelasma,... |
ORPHA:35687 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Pancytopenia, Abnormality of the spleen, Splenomegaly, Skin ulcer, Hepatosplenomegaly, Anemia, Gr... |
ORPHA:2072 |
Gaucher Disease, Type Iiic |
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Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly |
OMIM:231005 |
Hyper-Igd Syndrome |
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Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Art... |
OMIM:260920 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... |
OMIM:600081 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
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Anemia |
OMIM:620358 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... |
OMIM:241530 |
Budd-Chiari Syndrome |
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Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... |
ORPHA:131 |
Fanconi-Bickel Syndrome |
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Osteopenia, Hepatomegaly, Hypertriglyceridemia, Rickets, Growth delay, Abnormal hepatic glycogen ... |
ORPHA:2088 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Osteopenia, Severe short stature, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyp... |
ORPHA:1901 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Gout, Anemia |
OMIM:174000 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Spars... |
OMIM:300554 |
Autoimmune Hepatitis |
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Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Sclerosing cholang... |
ORPHA:2137 |
Toxic Epidermal Necrolysis |
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Erythema, Skin ulcer, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:537 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Joint laxity, Hepatomegaly, Splenomegaly, Delayed epiphyseal ossification, Disproportionate short... |
OMIM:602557 |
Rheumatic Fever |
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Arthritis, Erythema, Pallor |
ORPHA:3099 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Splenomegaly, Neutropeni... |
ORPHA:37042 |
Senior-Loken Syndrome 8 |
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Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Osteopenia, Hepatomegaly, Portal hypertension, Sagittal craniosynostosis, Pancreatic cysts, Splen... |
OMIM:610199 |
Niemann-Pick Disease, Type C2 |
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Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos... |
OMIM:607625 |
Hypophosphatasia, Adult |
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Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Hermansky-Pudlak Syndrome 10 |
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Hepatomegaly, Splenomegaly, Neutropenia |
OMIM:617050 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
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Hepatomegaly, Osteoporosis, Rickets |
OMIM:560000 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
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Hepatomegaly, Short stature, Limb joint contracture, Splenomegaly, Micronodular cirrhosis, Flexio... |
OMIM:301072 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Hepatomegaly, Redundant neck skin, Postnatal growth retardation, Splenomegaly, Pancreatic lymphan... |
ORPHA:1655 |
Primary Hyperoxaluria Type 1 |
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Anemia |
ORPHA:93598 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Hip contracture, Short stature, Flexion contracture, Bone cyst, Osteolysis, Anemia |
ORPHA:3042 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Short stature, Osteomalacia, Postnatal growth retardation, Delayed epiphyseal ossification, Ricke... |
ORPHA:289157 |
Polycythemia Vera |
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Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leu... |
ORPHA:729 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Short stature, Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal bone structure,... |
ORPHA:93160 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Hypertriglyceridemia, Elevated hem... |
OMIM:269700 |
Fructose-1,6-Bisphosphatase Deficiency |
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Hepatomegaly, Hepatic steatosis, Pallor |
ORPHA:348 |
Axial Osteomalacia |
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Increased bone mineral density, Polycystic liver disease, Osteomalacia |
OMIM:109130 |
Hypophosphatemic Bone Disease |
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Short stature, Osteomalacia, Rickets |
OMIM:146350 |
Adams-Oliver Syndrome 5 |
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Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy |
OMIM:616028 |
Oculocerebrorenal Syndrome Of Lowe |
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Short stature, Osteomalacia, Recurrent fractures, Joint stiffness, Thrombocytopenia, Skin ulcer, ... |
ORPHA:534 |
Kcnq2-Related Epileptic Encephalopathy |
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Pallor, Facial erythema |
ORPHA:439218 |
Lysinuric Protein Intolerance |
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Osteopenia, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia, Osteoporosis, Hepatosplenom... |
ORPHA:470 |
Renal Nutcracker Syndrome |
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Anemia |
ORPHA:71273 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
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Short stature, Osteomalacia, Reduced bone mineral density, Growth delay, Hypophosphatemic rickets... |
ORPHA:157215 |
Cystinosis |
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Short stature, Rickets, Portal hypertension, Delayed puberty |
ORPHA:213 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Hypertriglyceridemia, Short stature, Camptodactyly of finger, Cardiomegaly, Microcy... |
OMIM:256040 |
Mucopolysaccharidosis Type 7 |
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Joint stiffness, Splenomegaly, Hepatitis, Epiphyseal stippling, Ascites |
ORPHA:584 |
Trichohepatoenteric Syndrome 1 |
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Hepatomegaly, Short stature, Increased mean platelet volume, Splenomegaly, Abnormality of the pan... |
OMIM:222470 |
Myopathy, Mitochondrial, And Ataxia |
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Growth delay, Short stature, Pallor |
OMIM:617675 |
Von Hippel-Lindau Syndrome |
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Neoplasm of the pancreas, Polycythemia, Hepatic hemangioma, Pancreatic cysts |
OMIM:193300 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hemolytic anemia |
OMIM:175780 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
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Pallor |
ORPHA:13 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... |
OMIM:264700 |
Hypercholanemia, Familial 1 |
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Rickets, Steatorrhea |
OMIM:607748 |
Vitamin D-Dependent Rickets, Type 2A |
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Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... |
OMIM:277440 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire... |
OMIM:306400 |
Fanconi Renotubular Syndrome 2 |
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Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Hepatomegaly, Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, Increased hepatic echogenici... |
OMIM:619525 |
Parenteral Nutrition-Associated Cholestasis |
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Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hyperlipidemia, H... |
ORPHA:567983 |
Fibrous Dysplasia Of Bone |
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Thin bony cortex, Cortical irregularity, Short stature, Osteomalacia, Fibrous dysplasia of the bo... |
ORPHA:249 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
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Growth delay, Rickets |
OMIM:602722 |
Dent Disease 1 |
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Short stature, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Spars... |
OMIM:300009 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Hepatitis, Hypoplasia of the thymus, Intrauterine growth retardation... |
ORPHA:436252 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension... |
ORPHA:171 |
Prolactinoma |
|
Osteopenia, Osteoporosis, Pallor, Delayed puberty |
ORPHA:2965 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Familial Mediterranean Fever |
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Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis, Arthritis |
OMIM:249100 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp... |
ORPHA:731 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Short stature, Osteomalacia, Osteoarthritis, Rickets, Hypophosphatemic rickets |
OMIM:307800 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
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Splenomegaly, Leukocytosis, Peritonitis, Erythema, Lymphadenopathy, Arthritis |
ORPHA:32960 |
Hardikar Syndrome |
|
Hepatomegaly, Intrahepatic bile duct cysts, Short stature, Cholangitis, Portal hypertension, Hype... |
OMIM:301068 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Hepatomegaly, Splenomegaly, Hyperlipidemia, Vacuolated lymphocytes, Pancreatitis |
ORPHA:565612 |
Fanconi Renotubular Syndrome 3 |
|
Growth delay, Short stature, Rickets |
OMIM:615605 |
Isolated Biliary Atresia |
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Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Xanthelasma, Acholic stoo... |
ORPHA:30391 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Lack of skin elasticity, In... |
ORPHA:2671 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Short stature, Osteoporosis, Anemia, Leukopenia, Bone marro... |
OMIM:305000 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Osteomalacia, Postnatal growth retardation, Intrahepatic cholestasis, Rickets |
OMIM:227810 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Anemia |
OMIM:175050 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Short stature, Rickets |
OMIM:616026 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Cranial hyperostosis |
OMIM:612918 |
Fanconi Renotubular Syndrome 1 |
|
Short stature, Osteomalacia, Rickets |
OMIM:134600 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Short stature, Splenomegaly, Rickets, Growth delay, Delayed puberty, Hypophosphatem... |
OMIM:219800 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Osteomyelitis, Short stature, Leukocytosis, Peritonitis, Recurrent tonsil... |
ORPHA:2968 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Reynolds Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Steatorrhea, Lymphopenia |
OMIM:613471 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration... |
OMIM:619991 |
Familial Mediterranean Fever |
|
Splenomegaly, Peritonitis, Osteoarthritis, Erythema, Lymphadenopathy, Arthritis, Ascites, Pancrea... |
ORPHA:342 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,... |
ORPHA:289176 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Short stature, Recurrent fractures, Rickets |
OMIM:268315 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegal... |
OMIM:181000 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Neoplasm of the liver, Cervical lymphadenopathy, Pallor |
ORPHA:653 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Pallor, Cardiomegaly |
ORPHA:137675 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Splenomegaly, Dry skin, Hepatomegaly |
OMIM:612132 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Osteoporosis, Pallor, Delayed puberty |
ORPHA:91347 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Disproportionate short stature, Limitation of joint... |
ORPHA:89936 |
Esophageal Atresia |
|
Growth delay, Laryngotracheomalacia, Pallor |
ORPHA:1199 |
Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
Dent Disease |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Jaundice, Osteoporosis, Hepatitis, Cholestasis, Rickets, Osteolysis, Jo... |
ORPHA:198 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Short stature, Rickets |
OMIM:612089 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Pancreatitis |
OMIM:600740 |
Lowe Oculocerebrorenal Syndrome |
|
Short stature, Osteomalacia, Camptodactyly of finger, Hypercholesterolemia, Postnatal growth reta... |
OMIM:309000 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Growth delay, Extrahepatic portal hypertension, Hepatic arteriovenous m... |
ORPHA:2929 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Anemia, Hepatic arteriovenous malformation, Polycythemia, Cirrhosis |
OMIM:600376 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Severe short stature, Osteomalacia, Osteoporosis, Rick... |
ORPHA:2636 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Infantile Nephropathic Cystinosis |
|
Growth delay, Rickets |
ORPHA:411629 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Anemia, Hepatic arteriovenous malformation, Polycythemia, Cirrhosis |
OMIM:187300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Primary Fanconi Renotubular Syndrome |
|
Growth delay, Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia, Pancreatitis |
ORPHA:405 |
Generalized Arterial Calcification Of Infancy |
|
Osteomalacia, Cardiomegaly, Hepatic calcification, Abnormal calcification of the carpal bones, Fu... |
ORPHA:51608 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Pallor, Cardiomegaly |
ORPHA:99125 |