Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia |
OMIM:153550 |
Anemia, Sideroblastic, 1 |
|
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... |
OMIM:300751 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
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 |
Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... |
OMIM:613313 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated... |
OMIM:616278 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Abnormality of iron homeostasis,... |
ORPHA:848 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... |
ORPHA:231214 |
Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... |
OMIM:615550 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Majeed Syndrome |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Failure to thrive, Hepatosple... |
OMIM:609628 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Reticulocytosis, Erythroid hyperplasia, Splenomegaly |
OMIM:237800 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypochromic anemia, Pappenheimer... |
OMIM:600462 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Hepatomegaly, Short sta... |
OMIM:619423 |
Atransferrinemia |
|
Atransferrinemia, Abnormality of the liver, Hypochromic anemia |
OMIM:209300 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Cirrhosis, Elevated hepatic transamina... |
OMIM:604250 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... |
OMIM:212050 |
Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Increased erythrocyte protoporphyrin concentration, Elevated hepatic transaminase... |
OMIM:300752 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hepatomegaly, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hemato... |
OMIM:259720 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Failure to thrive, Small for gestational age, Increased serum pyruvate, Hypochromic microcytic an... |
OMIM:619147 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... |
OMIM:231100 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... |
ORPHA:231222 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... |
ORPHA:300298 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Short stature |
ORPHA:3319 |
Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
Majeed Syndrome |
|
Failure to thrive, Hepatomegaly, Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Cache... |
ORPHA:77297 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Hypochromic microcytic anemia |
OMIM:301310 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase conc... |
OMIM:618805 |
Niemann-Pick Disease, Type A |
|
Failure to thrive, Sea-blue histiocytosis, Hepatomegaly, Short stature, Splenomegaly, Elevated ci... |
OMIM:257200 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Short stature, Severe postnatal growth retardation, Cholestasis, Hypoc... |
ORPHA:440713 |
Dilated Cardiomyopathy With Ataxia |
|
Growth delay, Microvesicular hepatic steatosis, Hypochromic microcytic anemia, Elevated circulati... |
ORPHA:66634 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Elevated circulating C-reactive protein concentration, Sterile abscess, Hepatosplenomegaly, Throm... |
OMIM:604416 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Abnormal enzyme/coenz... |
ORPHA:48818 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Short stature,... |
OMIM:615631 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Short stature, Anisocytosis, Poikilocytosi... |
ORPHA:98870 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Short stature, Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Microcyti... |
OMIM:619013 |
Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... |
OMIM:616084 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Mild postnatal growth... |
OMIM:224120 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Growth delay, Thrombocytopenia, Hypochromic microcy... |
ORPHA:3240 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Increased serum pyruvate, Cholestasis, Increased se... |
OMIM:603358 |
Anemia, Autoimmune Hemolytic |
|
Autoimmune hemolytic anemia |
OMIM:205700 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Anemia, Hepatic steatosis,... |
OMIM:606069 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Failure to thrive, Hepatomegaly, Splenomegaly, Extramedulla... |
OMIM:615285 |
Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
Immunodeficiency 89 And Autoimmunity |
|
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Increased... |
OMIM:619632 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Growth delay, Hypochromic anemia |
OMIM:257790 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis, Abnormal circulating porphyrin concentration... |
ORPHA:79278 |
Vascular Malformation, Primary Intraosseous |
|
Elevated circulating alkaline phosphatase concentration, Umbilical hernia, Hypochromic anemia |
OMIM:606893 |
Ménétrier Disease |
|
Weight loss, Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia |
ORPHA:2494 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Reticulocytosis, Splenomegaly |
OMIM:224100 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:615234 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Shor... |
OMIM:607616 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Elevated circulating amyloid A, Short stat... |
OMIM:619750 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Hepatomegaly, Short stature, Splenomegaly, Elevated circulating aspartate amin... |
OMIM:619868 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... |
OMIM:613673 |
Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:616860 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Short stature, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemoglobin,... |
OMIM:141750 |
Barth Syndrome |
|
Failure to thrive, Granulocytopenia, Hypochromic microcytic anemia, Cyclic neutropenia, Neutropen... |
OMIM:302060 |
Plummer-Vinson Syndrome |
|
Decreased circulating ferritin concentration, Hypochromic microcytic anemia, Iron deficiency anemia |
ORPHA:54028 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Hepa... |
OMIM:618963 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Growth delay, Anemia, Lymphadenop... |
ORPHA:100025 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:603909 |
Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia |
OMIM:222800 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Neutropenia |
OMIM:251900 |
3-Methylglutaconic Aciduria, Type V |
|
Normochromic microcytic anemia, Microvesicular hepatic steatosis, Postnatal growth retardation, I... |
OMIM:610198 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Hypermanganesemia With Dystonia 1 |
|
Decreased liver function, Hepatomegaly, Polycythemia, Cirrhosis, Elevated hepatic transaminase, H... |
OMIM:613280 |
Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Conge... |
ORPHA:79230 |
Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... |
ORPHA:514 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Lymphocytosis, Hyperbilir... |
ORPHA:1667 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Failure to thrive, Microcytic anemia |
OMIM:618811 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Microcytic anemia, Hypochromic anemia |
OMIM:618451 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Short stature, Splenomegaly, Elevated circulating aspartate ami... |
OMIM:620010 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Increased se... |
OMIM:602390 |
Diamond-Blackfan Anemia 4 |
|
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612527 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly |
OMIM:312500 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Iron def... |
ORPHA:89937 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hyper... |
OMIM:603552 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Failure to thrive, Microcytic anemia, Short stature |
ORPHA:98791 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight l... |
ORPHA:100024 |
Trichohepatoenteric Syndrome 1 |
|
Failure to thrive, Hepatomegaly, Jaundice, Short stature, Splenomegaly, Cirrhosis, Small for gest... |
OMIM:222470 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increased serum iron, ... |
ORPHA:446 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Immunodeficiency 52 |
|
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... |
OMIM:617514 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Reticulocytosis, Normochromic a... |
OMIM:235700 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Short stature, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, H... |
OMIM:614480 |
Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
Somatostatinoma |
|
Neoplasm of the pancreas, Abnormal abdomen morphology, Gallbladder dysfunction, Hepatomegaly, Ext... |
ORPHA:97283 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cir... |
ORPHA:465508 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Growth delay, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Umbilical hernia... |
OMIM:301040 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Sideroblastic anemia, Intrauterine growth retardation, Thrombocytopenia |
OMIM:617021 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hep... |
OMIM:278000 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia, Hepatomegaly, Short stature, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Normochromic anemia |
OMIM:245900 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis |
OMIM:266140 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Mantle Cell Lymphoma |
|
Weight loss, Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnormal natural ki... |
OMIM:613101 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Hepatomegaly, Absent isohemagglutinin level, Elevated circu... |
OMIM:615559 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly, Decreased hemoglobin concentration, Cholecy... |
OMIM:266200 |
Blue Rubber Bleb Nevus |
|
Microcytic anemia |
ORPHA:1059 |
Familial Benign Copper Deficiency |
|
Anemia, Decreased circulating copper concentration, Short stature |
ORPHA:1551 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Increased circ... |
ORPHA:86841 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Failure to thrive, Microcytic anemia, Elevated hepatic transaminase |
OMIM:612379 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Anemia, Aceruloplasminemia, Decreased serum iron |
OMIM:604290 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Anemia of inadequate production, Macrocytic anemia, Congenital hypoplastic anemia |
OMIM:105600 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Short stature, Decreased body weight, Hepatomegaly, Iron deficiency anemia |
OMIM:607906 |
Leishmaniasis |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage... |
ORPHA:507 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Infantile Liver Failure Syndrome 1 |
|
Failure to thrive, Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic trans... |
OMIM:615438 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir... |
OMIM:619658 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... |
OMIM:209950 |
Acute Erythroid Leukemia |
|
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia |
ORPHA:318 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Galactosemia Iii |
|
Failure to thrive, Hepatomegaly, Decreased beta-galactosidase activity, Splenomegaly, Hypergalact... |
OMIM:230350 |
Immunodeficiency 64 |
|
Failure to thrive, Decreased circulating IgG level, Increased circulating IgA level, Defective T ... |
OMIM:618534 |
Srd5A3-Cdg |
|
Elevated hepatic transaminase, Microcytic anemia |
ORPHA:324737 |
Copper Deficiency, Familial Benign |
|
Failure to thrive, Anemia, Decreased circulating copper concentration |
OMIM:121270 |
Syndromic Diarrhea |
|
Lymphopenia, Hepatomegaly, Hepatoblastoma, Splenomegaly, Short stature, Cirrhosis, Hypoplasia of ... |
ORPHA:84064 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Decreased circulating ferritin concentration, Hepa... |
ORPHA:309854 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypertriglyceridemia, Elevated ... |
OMIM:232700 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Failure to thrive, Hepatomegaly, Elevated hepatic transaminase, Growth delay, Sideroblastic anemia |
OMIM:613561 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia, Failure to thrive, Hypomethioninemia, Hyperhomocystinemia, Decreased methio... |
OMIM:250940 |
Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia |
ORPHA:51208 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Elevated circulating aspartate aminotransferase ... |
OMIM:300972 |
Acatalasemia |
|
Microcytic anemia, Reduced catalase level |
ORPHA:926 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro... |
OMIM:610333 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellul... |
OMIM:235200 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... |
OMIM:616050 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Decreased circulating anti... |
OMIM:226300 |
Porphyria Cutanea Tarda |
|
Increased circulating ferritin concentration, Viral hepatitis, Periportal fibrosis, Abnormal enzy... |
ORPHA:101330 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Decreased circulating IgA level, Hypocalcemia, Short stature, Iron deficiency ... |
OMIM:212750 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Failure to thrive, Hepatomega... |
OMIM:612714 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... |
OMIM:614470 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Failure to thrive secondary to recurrent infection... |
OMIM:608971 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Growth delay, Weight loss, Jaundice |
ORPHA:79238 |
Diamond-Blackfan Anemia 5 |
|
Leukopenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612528 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:615085 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Rh Deficiency Syndrome |
|
Hypochromia, Jaundice, Spherocytosis, Hyperbilirubinemia, Anisocytosis, Hepatosplenomegaly, Macro... |
ORPHA:71275 |
Trichohepatoenteric Syndrome 2 |
|
Failure to thrive, Hepatomegaly, Small for gestational age, Cirrhosis, Chronic hepatitis, Decreas... |
OMIM:614602 |
Congenital Atransferrinemia |
|
Anemia |
ORPHA:1195 |
Diamond-Blackfan Anemia 20 |
|
Anemia, Erythroid hypoplasia |
OMIM:618313 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Megaloblastic anemia, Failure to thrive, Hypomethioninemia, Hyperhomocystinemia, Decreased methio... |
OMIM:236270 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... |
OMIM:619824 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... |
OMIM:616828 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Short stature, Splenomegaly, Hemolytic anemia, Growth delay, Jaundice, Hyperkalemia |
OMIM:608885 |
Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the t... |
OMIM:603554 |
Gaucher Disease, Type Iii |
|
Decreased body weight, Hepatomegaly, Short stature, Splenomegaly, Decreased beta-glucocerebrosida... |
OMIM:231000 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Glycogen Storage Disease Xii |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, ... |
OMIM:611881 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... |
OMIM:616689 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Prolonged neonatal jaundice, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, ... |
ORPHA:288 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... |
OMIM:616959 |
Dermatitis Herpetiformis |
|
Microcytic anemia |
ORPHA:1656 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Elevated ci... |
ORPHA:158061 |
Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Idiopathic Pulmonary Hemosiderosis |
|
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Cardiomegaly |
ORPHA:99931 |
Immunodeficiency 48 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, Absence of CD8-positive ... |
OMIM:269840 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Intrauterine growth retardation, Decreased transfer... |
ORPHA:53693 |
Monosomy 22 |
|
Hepatosplenomegaly, Hypochromic microcytic anemia, Aplasia of the thymus |
ORPHA:96123 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Growth delay, Lymphadenopathy |
OMIM:619164 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Immunodeficiency 54 |
|
Failure to thrive, Hepatomegaly, Short stature, Splenomegaly, Postnatal growth retardation, Lymph... |
OMIM:609981 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Wolman Disease |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cachexia, Growth delay, Anemia, Bone-marrow foam cel... |
ORPHA:75233 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepa... |
OMIM:308240 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level, Splenomegaly |
OMIM:612126 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis |
OMIM:301083 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Microcytic anemia |
OMIM:618972 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia |
OMIM:598500 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly |
ORPHA:163596 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Short stature, Severe postnatal growth retardation, Microcytic anemia, Delayed puberty, Moderate ... |
ORPHA:293967 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Splenomegaly, Increased serum pyruvate, Hyperprolinemia, Macrocytic anemia, Hy... |
OMIM:619046 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Short stature, Small for gestational age, T lymphocytopenia, Elevated h... |
ORPHA:2959 |
Klippel-Trénaunay Syndrome |
|
Microcytic anemia, Hepatomegaly, Ascites |
ORPHA:90308 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia, Growth delay |
OMIM:601815 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypocalcemia, Splenomegaly,... |
ORPHA:37042 |
Bleeding Disorder, Platelet-Type, 16 |
|
Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Elevated circulating a... |
ORPHA:79303 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Growth delay, Anemia, Thrombocyt... |
OMIM:611490 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplas... |
OMIM:300635 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolo... |
OMIM:618892 |
Caspase 8 Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Short statur... |
OMIM:607271 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Wilson Disease |
|
Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis,... |
ORPHA:905 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomeg... |
ORPHA:824 |
Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Decreased circulating IgG level, Hepatomegaly, Elev... |
OMIM:613011 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hep... |
ORPHA:79301 |
Folate Malabsorption, Hereditary |
|
Failure to thrive, Leukopenia, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Intrauterine growth retardation, Macrocytic anemia |
OMIM:615578 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia, Neutropenia, Anemia,... |
ORPHA:79312 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... |
OMIM:214900 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hype... |
OMIM:614857 |
Sandhoff Disease |
|
Failure to thrive, Hepatomegaly, Splenomegaly |
ORPHA:796 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... |
OMIM:251880 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hemophagocytosis, Decreased proportion of CD4+CD25+... |
OMIM:619802 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... |
ORPHA:64743 |
Megaloblastic Anemia, Folate-Responsive |
|
Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblastic anemia, Episodic hemolyti... |
OMIM:601775 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Hypomethioninemia, Macrocytic ... |
ORPHA:2169 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia |
OMIM:300946 |
Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia |
ORPHA:90647 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Short stature, Decreased HDL cholesterol concentration, Decreased serum creatinine, Iron deficien... |
OMIM:618885 |
Transaldolase Deficiency |
|
Failure to thrive, Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, ... |
OMIM:606003 |
Leukocyte Adhesion Deficiency Type Ii |
|
Failure to thrive, Abnormal isohemagglutinin level, Neutrophilia, Leukocytosis, Short stature, He... |
ORPHA:99843 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Jaundice, Short stature, Splenomegaly, Anemia, Thrombocytopenia, Intrauterine growt... |
ORPHA:290 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Hepatomegaly, Hyperammonemia, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia |
ORPHA:27 |
Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Short stature, Neutropenia, Bone marrow hypocellularity, Anemia |
OMIM:614900 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia... |
OMIM:612526 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia, Lymphadenopathy |
ORPHA:37748 |
Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
Mevalonic Aciduria |
|
Failure to thrive, Fluctuating hepatomegaly, Elevated circulating C-reactive protein concentratio... |
OMIM:610377 |
H Syndrome |
|
Histiocytosis, Short stature, Hepatosplenomegaly, Enlarged kidney, Hypertriglyceridemia, Microcyt... |
ORPHA:168569 |
Babesiosis |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Thrombocytopenia, Jaun... |
ORPHA:108 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Hepatomegaly, Short stature, Splenomegaly, Impaired T cell function, Low alkal... |
OMIM:201100 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased body weight, Abnormal circulating selenium concentration, Decreased ... |
ORPHA:89842 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Gaucher Disease, Type Ii |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230900 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
Neonatal Severe Primary Hyperparathyroidism |
|
Short stature, Hepatomegaly, Splenomegaly |
ORPHA:417 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopathy |
ORPHA:66661 |
Griscelli Syndrome |
|
Hepatomegaly, Short stature, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, ... |
ORPHA:381 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Increased circulating IgG level, Autoimmune hemoly... |
OMIM:618495 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hyperuricemia, H... |
OMIM:306000 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:612653 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Short s... |
OMIM:601847 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hemophagocytosis, ... |
OMIM:267700 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Short stature, Hypochromic anemia |
ORPHA:2720 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod... |
ORPHA:54251 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosi... |
OMIM:616649 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Growth delay, Polycythemia |
OMIM:250800 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hemophagocytosis, ... |
OMIM:603553 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Jaundice |
OMIM:613839 |
Pyridoxal Phosphate-Responsive Seizures |
|
Failure to thrive, Abnormal circulating tyrosine concentration, Hypoargininemia, Abnormal circula... |
ORPHA:79096 |
Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia |
OMIM:194350 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Intrauterine growth retardation, Hepatomegaly, Splenomegaly |
OMIM:608540 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Increased circulating lactate dehydroge... |
OMIM:210250 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... |
ORPHA:86839 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... |
ORPHA:541423 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis... |
OMIM:185000 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosi... |
OMIM:182900 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Extramedullary hem... |
ORPHA:822 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase co... |
OMIM:235555 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Hepatomegaly, Elevated ... |
OMIM:614576 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic ane... |
OMIM:612561 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Increas... |
OMIM:194380 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Fanconi Anemia, Complementation Group T |
|
Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... |
OMIM:618849 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia,... |
OMIM:301078 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Decreased circulating IgA level, Failure to thrive, Lymphopenia, Decreased... |
ORPHA:331206 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... |
OMIM:619525 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Decreased glucosephosphate isomerase level, Sple... |
OMIM:613470 |
Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubine... |
OMIM:269920 |
Alpha-1-Antitrypsin Deficiency |
|
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated he... |
OMIM:613490 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:109270 |
Glycogen Storage Disease Ixc |
|
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertri... |
OMIM:613027 |
Shwachman-Diamond Syndrome 1 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Short stature, Persistence of... |
OMIM:260400 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Small for gestational age, Elevated circulating creatine kinase concentration, Th... |
OMIM:618775 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Hepatic failure, Chronic noninfectious lymphadenopathy, Iron deficiency anemia, Ele... |
ORPHA:100075 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... |
ORPHA:35858 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Hypermethioni... |
ORPHA:247598 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... |
ORPHA:98849 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Small for gestational age |
ORPHA:621 |
Eisenmenger Syndrome |
|
Increased mean corpuscular volume, Hepatomegaly, Elevated circulating C-reactive protein concentr... |
ORPHA:97214 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Exocrine pancreatic insufficiency, Cirrhosis, Chronic hepatitis, Iron deficiency anemia,... |
OMIM:269200 |
Blue Rubber Bleb Nevus |
|
Thrombocytopenia, Abnormality of the liver, Iron deficiency anemia |
OMIM:112200 |
Hodgkin Lymphoma |
|
Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi... |
ORPHA:75234 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Short stature, Splenomegaly, ... |
ORPHA:264580 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... |
OMIM:613812 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Short stature |
OMIM:249270 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Failure to thrive, Lymphopenia, Hepatomegaly, Splenomegaly,... |
OMIM:617591 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Short stature, Spherocytosis, Splenomegaly |
ORPHA:66518 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease... |
ORPHA:540 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Mcleod Syndrome |
|
Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration, Elevated circulat... |
OMIM:300842 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating antibody level, Failure to thrive, Increased circulating IgA level, Hepatom... |
OMIM:256040 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... |
OMIM:613489 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Failure to thrive, Overweight, Decreased serum iron |
ORPHA:391372 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... |
OMIM:616005 |
Wilson Disease |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Por... |
OMIM:277900 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Ascites, Splenomegaly |
ORPHA:1046 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic ... |
OMIM:607765 |
Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Hypocalcemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentr... |
OMIM:259700 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Failure to thrive, Short stature, Cirrhosis, Elevated gamma-glutamyltransferase level, Elevated h... |
OMIM:242150 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:618398 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... |
OMIM:308230 |
Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Increased circulating IgA level, Hepatomegaly, Elevated circulating C-reactive... |
OMIM:617388 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia, Short stature |
ORPHA:49827 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Intrauterine growth retardation, Reduced C-peptide level, Small for gest... |
OMIM:606176 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphopenia, Splenomegaly, Short stature, Recurrent tonsillitis, Hepatosplenomegaly, Lymphadeniti... |
OMIM:618935 |
Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Hepa... |
ORPHA:370 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
Ileal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminase,... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminase,... |
ORPHA:100077 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Lymphocytosis, Iron deficiency anemia, Thr... |
OMIM:301074 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... |
ORPHA:98848 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anemia, Hemolytic anemia, Elev... |
ORPHA:398124 |
Purine Nucleoside Phosphorylase Deficiency |
|
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegal... |
OMIM:613179 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... |
ORPHA:3226 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Hepat... |
ORPHA:470 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous... |
OMIM:271500 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Failure to thrive, Hepatomegaly, Short stature, Splenomegaly, Cirrhosis, Conjugat... |
OMIM:211600 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly |
OMIM:616719 |
Roifman Syndrome |
|
Hepatomegaly, Short stature, Splenomegaly, Eosinophilia, Postnatal growth retardation, Lymphadeno... |
OMIM:616651 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Failure to thrive, Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased ci... |
OMIM:618213 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal enzyme/coenzyme activity, Short stature, Splenomegaly, Cirrhosis, Increase... |
ORPHA:79240 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:314050 |
Prolidase Deficiency |
|
Increased circulating antibody level, Failure to thrive, Hepatomegaly, Splenomegaly, Elevated cir... |
OMIM:170100 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Dysplastic Cortical Hyperostosis |
|
Short stature, Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Acquired Von Willebrand Syndrome |
|
Refractory anemia, Normocytic anemia, Hypochromic anemia |
ORPHA:99147 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Decreased serum thromboxane B2, Impaired platelet aggregation, Abnormal c... |
OMIM:618372 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Failure to thrive, Splenomegaly, Normocytic anemia, Macrocytic anemia, Hemolytic ... |
OMIM:615512 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Increased blood urea nitrogen, Leukopenia, Reticulocytosis, Abnormal erythrocyte enzyme level, De... |
ORPHA:447 |
Cinca Syndrome |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, ... |
ORPHA:1451 |
Griscelli Syndrome Type 2 |
|
Neutropenia, Hepatomegaly, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphade... |
ORPHA:79477 |
Fetal Gaucher Disease |
|
Hepatomegaly, Splenomegaly, Abnormality of the spleen, Neonatal death, Pancytopenia, Thrombocytop... |
ORPHA:85212 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Short stature, Splenomegaly, Hyperammonemia, Acute hepatic failure, Cholestasis, El... |
OMIM:618641 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Failure to thrive, Exocrine pancreatic insufficiency, Neutropenia, Sideroblas... |
OMIM:557000 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... |
OMIM:600903 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Decreased circ... |
OMIM:615122 |
Wiskott-Aldrich Syndrome |
|
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platelet function... |
ORPHA:906 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Failure to thrive, Elevated circulating palmitoleylcarnitine concentration,... |
ORPHA:79284 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Hypoproteinemia, Lymphadenitis, Elev... |
OMIM:615895 |
Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte mo... |
ORPHA:39041 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... |
ORPHA:100026 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Weight loss, Lymphadeno... |
ORPHA:545 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low... |
OMIM:602450 |
Dohle Bodies And Leukemia |
|
Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia |
OMIM:223350 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Megaloblastic anemia, Failure to thrive, Hyperhomocystinemia, Pancytopenia, Cystathioninemia, Met... |
OMIM:277380 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... |
ORPHA:53035 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Abnormal T cell subset d... |
ORPHA:158048 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Bilia... |
ORPHA:1414 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein c... |
ORPHA:829 |
Transcobalamin Ii Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... |
OMIM:275350 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Obesity |
OMIM:605309 |
Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Aplastic anemia, Macrocytic anemia, Pancreatic h... |
ORPHA:811 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Cervical lymphad... |
ORPHA:2442 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Weight loss, Neutropenia, Bone marrow... |
ORPHA:47612 |
Elliptocytosis 1 |
|
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly |
OMIM:611804 |
Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Hepatic failure, Cirrhosis, Cholecystitis, Microcytic anemia, Portal hypertension |
ORPHA:774 |
Farber Lipogranulomatosis |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Decreased acid ceramidase activity, Lipogranulomat... |
OMIM:228000 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... |
OMIM:277410 |
Duodenal Neuroendocrine Tumor |
|
Increased hematocrit, Extrahepatic cholestasis, Hepatic failure, Iron deficiency anemia, Elevated... |
ORPHA:100076 |
Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:2584 |
Pfapa Syndrome |
|
Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly |
OMIM:611762 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia |
ORPHA:158029 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Elev... |
ORPHA:567983 |
Gaucher Disease Type 1 |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Biliary ... |
ORPHA:77259 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:266120 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... |
OMIM:240500 |
Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Hyperammonemia, Splenomegaly |
ORPHA:664 |
Hamamy Syndrome |
|
Microcytic anemia, Hypochromic anemia |
OMIM:611174 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia |
ORPHA:309108 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... |
OMIM:301000 |
Isolated Biliary Atresia |
|
Failure to thrive, Decreased liver function, Hepatomegaly, Periportal fibrosis, Severe failure to... |
ORPHA:30391 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Growth delay, Exocrine pancreatic insufficiency, Weight loss, Iron deficiency anemia |
ORPHA:309031 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly... |
OMIM:614700 |
Hyperparathyroidism, Neonatal Severe |
|
Failure to thrive, Hypophosphatemia, Hepatomegaly, Splenomegaly, Hypercalcemia, Calcinosis, Anemia |
OMIM:239200 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology |
ORPHA:2575 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hyperlysinemia, Hepatomegaly, Hypervalinemia, Leukocytosis, S... |
OMIM:615673 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... |
OMIM:618394 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatomegaly, Sple... |
OMIM:616100 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Short stature, Splenomegaly, Ascites, Bone-marrow foam cell... |
OMIM:256550 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Gaucher Disease, Perinatal Lethal |
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Decreased body weight, Hepatomegaly, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Neonatal ... |
OMIM:608013 |
Orthostatic Hypotension 2 |
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Anemia |
OMIM:618182 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Persistence of hemoglobin F, Overweight, Umbilical hernia, Increased size of nasopharyngeal adenoids |
OMIM:619769 |
Tyrosinemia, Type I |
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Failure to thrive, Hypophosphatemic rickets, Hepatomegaly, Splenomegaly, Elevated alpha-fetoprote... |
OMIM:276700 |
B4Galt1-Cdg |
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Hepatomegaly, Abnormal enzyme/coenzyme activity, Small for gestational age, Splenomegaly, Elevate... |
ORPHA:79332 |
Hurler-Scheie Syndrome |
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Abnormality of the tonsils, Short stature, Hepatomegaly, Splenomegaly |
ORPHA:93476 |
Hereditary Folate Malabsorption |
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Megaloblastic anemia, Failure to thrive, Eosinophilia, Decreased circulating antibody level, Panc... |
ORPHA:90045 |
Cronkhite-Canada Syndrome |
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Cachexia, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:2930 |
Autoimmune Hemolytic Anemia |
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Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:98375 |
Familial Pseudohyperkalemia |
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Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis |
ORPHA:90044 |
Muckle-Wells Syndrome |
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Hepatomegaly, Short stature, Splenomegaly, Delayed puberty, Anemia |
ORPHA:575 |
Classic Hodgkin Lymphoma |
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Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Weight loss, Lymphadenopathy |
ORPHA:391 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Failure to thrive, Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Splenomegaly, Apla... |
OMIM:102700 |
Lead Poisoning |
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Increased LDL cholesterol concentration, Small for gestational age, Decreased HDL cholesterol con... |
ORPHA:330015 |
Budd-Chiari Syndrome |
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Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Elevate... |
ORPHA:131 |
Drug-Induced Autoimmune Hemolytic Anemia |
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Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly |
ORPHA:90037 |