Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:616860 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
Glycogen Storage Disease Xiii |
|
Increased muscle glycogen content, Elevated circulating creatine kinase concentration |
OMIM:612932 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... |
ORPHA:300298 |
Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... |
OMIM:613313 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Anemia, Sideroblastic, 1 |
|
Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,... |
OMIM:300751 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... |
ORPHA:53693 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Cho... |
OMIM:603358 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... |
ORPHA:231222 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Conge... |
ORPHA:79230 |
Porphyria Cutanea Tarda |
|
Increased circulating ferritin concentration, Porphyrinuria, Viral hepatitis, Periportal fibrosis... |
ORPHA:101330 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Elev... |
ORPHA:98870 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... |
OMIM:231100 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated... |
OMIM:616278 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increased serum iron, ... |
ORPHA:446 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:615234 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Cirrhosis, Elevated hepatic transamina... |
OMIM:604250 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Abn... |
ORPHA:848 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Hypermanganesemia With Dystonia 1 |
|
Decreased liver function, Hepatomegaly, Polycythemia, Cirrhosis, Elevated hepatic transaminase, H... |
OMIM:613280 |
Hyperlysinemia, Type I |
|
Anemia, Hyperlysinemia |
OMIM:238700 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Abnormal enzyme/coenz... |
ORPHA:48818 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver |
OMIM:206100 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:619398 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Cardiomyopathy, Anemia, He... |
OMIM:606069 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Gout, Osteoporosis, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610947 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru... |
OMIM:613673 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... |
ORPHA:86841 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Hyperbilirubinemia, S... |
OMIM:224120 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Pericardial Effusion, Chronic |
|
Polycythemia |
OMIM:260900 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... |
OMIM:616689 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Atransferrinemia |
|
Atransferrinemia, Abnormality of the liver, Hypochromic anemia |
OMIM:209300 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Dilated card... |
OMIM:602390 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... |
OMIM:237800 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Hyp... |
OMIM:608898 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Decreased plasma carnitine, Anemia |
OMIM:611283 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia |
OMIM:232700 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Cirr... |
ORPHA:231226 |
Rh Deficiency Syndrome |
|
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... |
ORPHA:71275 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... |
ORPHA:231214 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... |
OMIM:212050 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Increased circulating ferritin concentration, Hypochromic anemia, Pallor, Pappenheimer bodies, Mi... |
OMIM:600462 |
Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... |
OMIM:616959 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Decreased circulating ferritin concentration, Hepa... |
ORPHA:309854 |
Breath-Holding Spells |
|
Pallor, Iron deficiency anemia |
OMIM:607578 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis, Copper accumulation in ... |
ORPHA:209919 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Retinohepatoendocrinologic Syndrome |
|
Pallor, Degenerative liver disease, Elevated circulating creatine kinase concentration |
OMIM:268040 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Decreased hemoglobin concentration, Cholecyst... |
OMIM:266200 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis, Erythema, Abnormal circulating porphyrin con... |
ORPHA:79278 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Jaundice |
OMIM:312500 |
Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Increased erythrocyte protoporphyrin concentration, Elevated hepatic transaminase... |
OMIM:300752 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Cholangiocarcinoma, Testicular atrophy, Hepatomegal... |
ORPHA:465508 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Thrombocytosis, Microc... |
OMIM:604416 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Failure to thrive, Hypokalemia, Hepatosplenomegaly, Hemolytic ... |
OMIM:611590 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Anemia, Aceruloplasminemia, Decreased serum iron |
OMIM:604290 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Plummer-Vinson Syndrome |
|
Pallor, Decreased circulating ferritin concentration, Hypochromic microcytic anemia, Iron deficie... |
ORPHA:54028 |
Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Po... |
OMIM:258900 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia |
OMIM:153550 |
Elliptocytosis 1 |
|
Splenomegaly, Pallor, Hemolytic anemia, Elliptocytosis, Jaundice |
OMIM:611804 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... |
ORPHA:90044 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Hepatomega... |
OMIM:601859 |
Leishmaniasis |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Pallor, Leukopenia, Abnormal ma... |
ORPHA:507 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Testicular atrophy, Hepatomegaly, Splenomegaly, Cir... |
OMIM:235200 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... |
OMIM:615285 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Hypomethioninemia, Macrocytic ... |
ORPHA:2169 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Pallor,... |
OMIM:194380 |
Trichohepatoenteric Syndrome 2 |
|
Failure to thrive, Colitis, Hepatomegaly, Small for gestational age, Cirrhosis, Chronic hepatitis... |
OMIM:614602 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... |
OMIM:619041 |
Mednik Syndrome |
|
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... |
ORPHA:171851 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Hepatic failure, Cholestasis, Abnormality of the pancreas, Hypermethioninemia, Abno... |
OMIM:222470 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Atrophic muscularis propria, Gastroesophageal reflux, Small intestinal dysmotility, Cirrhosis, Ca... |
ORPHA:298 |
Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas |
ORPHA:1195 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc... |
OMIM:619991 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Holoprosencephaly |
OMIM:611638 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Methylmalonic aciduri... |
OMIM:277410 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Hypochromic microcytic anemia |
OMIM:301310 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Malabsorption, Cachexia, Xerostomia, Hematochezia, Glo... |
OMIM:175500 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... |
ORPHA:42 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:263400 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
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 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Aplastic anemia, Macrocytic anemia,... |
ORPHA:811 |
Hepatocellular Carcinoma |
|
Hepatomegaly, Esophageal varix, Weight loss, Jaundice, Hyperbilirubinemia, Elevated hepatic trans... |
ORPHA:88673 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Malabsorption, Absence of intrinsic fact... |
OMIM:261000 |
Gaisböck Syndrome |
|
Increased hematocrit, Elevated plasma cell count, Hyperproteinemia, Increased mean corpuscular he... |
ORPHA:90041 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Cog2-Cdg |
|
Decreased liver function, Small pituitary gland, Decreased circulating ceruloplasmin concentratio... |
ORPHA:435934 |
Majeed Syndrome |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... |
OMIM:609628 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Immunodeficiency 89 And Autoimmunity |
|
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Increased... |
OMIM:619632 |
Irida Syndrome |
|
Pallor, Intrahepatic cholestasis, Decreased circulating copper concentration |
ORPHA:209981 |
Copper Deficiency, Familial Benign |
|
Failure to thrive, Anemia, Decreased circulating copper concentration |
OMIM:121270 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod... |
ORPHA:54251 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase co... |
OMIM:619868 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... |
OMIM:618963 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia, Increased muscle glycogen content, Hyperuricemia |
ORPHA:371 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Hepatomega... |
OMIM:603909 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... |
OMIM:616828 |
Syndromic Diarrhea |
|
Hepatomegaly, Hepatoblastoma, Gastritis, Abnormality of iron homeostasis, Ventricular septal defe... |
ORPHA:84064 |
Malaria |
|
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Anemia |
ORPHA:163596 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Failure to thrive, Atrial septal defect, Cleft palate, Persist... |
OMIM:612561 |
Acute Erythroid Leukemia |
|
Leukopenia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
Fumarase Deficiency |
|
High palate, Failure to thrive, Aminoaciduria, Hyperbilirubinemia, Hepatic failure, Polycythemia,... |
OMIM:606812 |
Cold Agglutinin Disease |
|
Hepatomegaly, Splenomegaly, Pallor, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Primary Myelofibrosis |
|
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Pallor, Hepato... |
ORPHA:824 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Increased circulating IgG level |
ORPHA:284227 |
Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Familial Benign Copper Deficiency |
|
Anemia, Decreased circulating copper concentration |
ORPHA:1551 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase conc... |
OMIM:618805 |
Idiopathic Achalasia |
|
Gastroesophageal reflux, Weight loss, Dysphagia, Decreased prealbumin level |
ORPHA:930 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Hyperbilirubinemia |
OMIM:618660 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnormal natural ki... |
OMIM:613101 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Wolman Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Steatorrhea, Cachexia, Esophageal varix, Anemia, Bon... |
ORPHA:75233 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... |
OMIM:605814 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... |
OMIM:616084 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir... |
OMIM:619658 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Hepatomegaly, Pallor, Pancytopenia, Thrombocytopenia, Jaundice |
OMIM:613839 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Hypochromic microcytic anemia |
OMIM:619423 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin, Pallor, Splenomegaly |
ORPHA:90037 |
Lysosomal Acid Lipase Deficiency |
|
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Steatorrhea, Esophageal... |
ORPHA:275761 |
Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
Majeed Syndrome |
|
Hepatomegaly, Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Hypochromic microcytic a... |
ORPHA:77297 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Hematuria, Weight loss, Hypercalcemia, Anemia, Thrombocytopenia, Lymphaden... |
ORPHA:69077 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ileus, Hepatomegaly, Ovarian neoplasm, Cachexia, Mediastinal lymphadeno... |
ORPHA:83469 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Hepatomegaly |
OMIM:604273 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Failure to thrive, Cirrhosis, Elevated gamma-glutamyltransferase level, Elevated hepatic transami... |
OMIM:242150 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic ane... |
OMIM:235700 |
Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatocellular necrosis, Decreased circulating IgG level, Hepa... |
OMIM:618278 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Duodenal Neuroendocrine Tumor |
|
Melena, Elevated circulating growth hormone concentration, Increased hematocrit, Extrahepatic cho... |
ORPHA:100076 |
Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Extramedullary hem... |
ORPHA:822 |
Cronkhite-Canada Syndrome |
|
Malabsorption, Hepatomegaly, Stomach cancer, Splenomegaly, Cachexia, Furrowed tongue, Intestinal ... |
ORPHA:2930 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Edema, Microphthalmia |
OMIM:616570 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hyper... |
OMIM:603552 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Microcytic anemia, Hypoa... |
OMIM:619013 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hepatomegaly, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hemato... |
OMIM:259720 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... |
ORPHA:86839 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Gastritis, Decreased prealbumin level, Failure to thrive in infancy, M... |
ORPHA:37042 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Hypochromic microcytic anemia, Cholestasis, Hepatitis, Portal hyperten... |
ORPHA:440713 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic fibrosis... |
OMIM:614480 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis |
OMIM:301083 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased LDL ... |
OMIM:616829 |
Ring Chromosome 10 Syndrome |
|
Cachexia, Hypocalcemia, Aganglionic megacolon |
ORPHA:1438 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Castleman Disease |
|
Decreased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Restric... |
ORPHA:160 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Fanconi Anemia, Complementation Group V |
|
Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia |
OMIM:617243 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Thrombocytopenia, Hypochromic microcytic anemia |
ORPHA:3240 |
Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia, Abnormal circulating histidine concentration |
ORPHA:51208 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Elevated circulating amyloid A, Hepatosple... |
OMIM:619750 |
Ménétrier Disease |
|
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia |
ORPHA:2494 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... |
OMIM:620010 |
Myelofibrosis |
|
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly |
OMIM:254450 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
High palate, Microvesicular hepatic steatosis, Hepatomegaly, Elevated circulating alkaline phosph... |
OMIM:300868 |
Immunodeficiency 47 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Leuk... |
OMIM:300972 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Whipple Disease |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cachexia, Mediastinal lymphadenopathy, Myocarditis, Pe... |
ORPHA:3452 |
Mulibrey Nanism |
|
Cachexia, Hepatomegaly |
ORPHA:2576 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ... |
OMIM:610717 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased body weight, Gastroesophageal reflux, Abnormal circulating selenium ... |
ORPHA:89842 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Elevated carcinoembryo... |
ORPHA:100083 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Odynophagia, Hemoglobinuria, Glycosuria, Proteinuria, Reduced haptoglobin level, Pancytopenia, Re... |
ORPHA:447 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Increased urine harderoporphyrin level, Hepatomegal... |
OMIM:618892 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Decreased circulating IgA level, Decreased circulating IgG level, Hepatome... |
ORPHA:331206 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... |
OMIM:607616 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Methylmalonic aciduria, Elevated circulating creatine kinase concentration, Aminoaciduria |
ORPHA:1933 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Neutropenia |
OMIM:251900 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia |
ORPHA:100025 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Abnormal heart morphology, Failure to thrive, Overweight, Decreased serum iron |
ORPHA:391372 |
Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Hypochromic microcytic anemia, Elevated circulating glutaric ac... |
ORPHA:66634 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Positive ferric chloride test, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Ele... |
OMIM:617156 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hyperalaninemia, Increased serum pyruvate, Anemia, Hypochromic microcytic anemia |
OMIM:619147 |
Fanconi Anemia, Complementation Group G |
|
Neutropenia, Microphthalmia, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransfera... |
OMIM:257200 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Cholestasis-Lymphedema Syndrome |
|
Malabsorption, Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentrat... |
OMIM:214900 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... |
ORPHA:169079 |
Acute Peripheral Arterial Occlusion |
|
Pallor, Leukocytosis |
ORPHA:90064 |
Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Decreased circulating antibody level, Pure red cell aplasia |
OMIM:618165 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Increased serum zinc |
OMIM:601979 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... |
OMIM:618849 |
Mantle Cell Lymphoma |
|
Weight loss, Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly |
ORPHA:52416 |
Hydrops Fetalis, Nonimmune |
|
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Thrombocytopenia, ... |
ORPHA:3226 |
Alpha-1-Antitrypsin Deficiency |
|
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated he... |
OMIM:613490 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly |
ORPHA:98375 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level, Splenomegaly |
OMIM:612126 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Increased muscle glycogen content, Reduced erythrocyte 2,3-diphosphoglycerate con... |
OMIM:232800 |
Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
Fetal Parvovirus Syndrome |
|
Hydrops fetalis, Thrombocytopenia, Anemia, Ascites, Increased nuchal translucency |
ORPHA:295 |
Cog7-Cdg |
|
Failure to thrive, Hepatomegaly, Small for gestational age, Hepatosplenomegaly, Elevated circulat... |
ORPHA:79333 |
Temple Syndrome |
|
Joint hypermobility, Flexion contracture, Small for gestational age, Truncal obesity, Hypertrigly... |
OMIM:616222 |
Preeclampsia |
|
Abnormality of the hepatic vasculature, Chronic kidney disease, Small for gestational age, Increa... |
ORPHA:275555 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... |
OMIM:601775 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Evans Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Petechiae, Pallor, Autoimmune thrombocytope... |
ORPHA:1959 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Lesch-Nyhan Syndrome |
|
Anemia, Hyperuricemia |
ORPHA:510 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
Wilson Disease |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... |
OMIM:277900 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis, Cachexia |
ORPHA:139436 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia |
OMIM:245900 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Hypokalemia, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux,... |
OMIM:619377 |
Galactosemia I |
|
Decreased liver function, Increased level of galactitol in urine, Failure to thrive, Increased le... |
OMIM:230400 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... |
ORPHA:541423 |
Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal cardiac septum morphology, Intestinal atresia, Tracheoesophageal fistula, Cachexia, Abno... |
ORPHA:93941 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:612653 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Microphthalmia |
OMIM:614830 |
Pearson Marrow-Pancreas Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, 3-Methylglutaric aciduria, Hepatic failure, Stea... |
OMIM:557000 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosi... |
OMIM:616649 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Hepat... |
ORPHA:470 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age, Osteoporosis, Pathologic fracture |
OMIM:307030 |
Hepatoportal Sclerosis |
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Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... |
ORPHA:64743 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Failure to thrive, Hepatomegaly, Splenomegaly, Low alkaline phosphatase, Decreased testicular siz... |
OMIM:201100 |
Vitamin B12-Responsive Methylmalonic Acidemia |
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Anemia, Hepatomegaly, Hyperammonemia |
ORPHA:28 |
Mu-Heavy Chain Disease |
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Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia |
ORPHA:100024 |
Microphthalmia, Isolated 1 |
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Anophthalmia, Microphthalmia |
OMIM:251600 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
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Slender build, Malabsorption, Cachexia, Intestinal pseudo-obstruction, Weight loss, Gastrointesti... |
OMIM:613662 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepa... |
ORPHA:79303 |
Letterer-Siwe Disease |
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Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice |
OMIM:246400 |
Glutamate-Cysteine Ligase Deficiency |
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Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Jaundice |
ORPHA:33574 |
Spina Bifida-Hypospadias Syndrome |
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Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Bleeding Disorder, Platelet-Type, 19 |
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Anemia, Macrothrombocytopenia |
OMIM:616176 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... |
OMIM:241520 |
Overhydrated Hereditary Stomatocytosis |
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Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis... |
OMIM:185000 |
Poems Syndrome |
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Polycythemia, Increased circulating antibody level, Lymphadenopathy, Thrombocytosis |
ORPHA:2905 |
Pyropoikilocytosis, Hereditary |
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Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis |
OMIM:266140 |
Pulmonary Hemosiderosis |
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Iron deficiency anemia |
OMIM:178550 |
Craniotelencephalic Dysplasia |
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Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Microphthalmia, Frontal encephalocele |
ORPHA:1528 |
Diamond-Blackfan Anemia 7 |
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Increased mean corpuscular volume, Secundum atrial septal defect, Cleft palate, Tetralogy of Fall... |
OMIM:612562 |
Lymphoproliferative Syndrome 1 |
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Increased circulating ferritin concentration, Decreased circulating IgG level, Hepatomegaly, Elev... |
OMIM:613011 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
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Hypochromic anemia |
OMIM:257790 |
Autoimmune Hemolytic Anemia, Warm Type |
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Splenomegaly, Pallor, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Jaundice |
ORPHA:90033 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
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Increased circulating ferritin concentration, Myocardial fibrosis, Abnormality of the hepatic vas... |
ORPHA:210136 |
Autosomal Dominant Hypophosphatemic Rickets |
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Hypocalcemia, Hypophosphatemia, Iron deficiency anemia |
ORPHA:89937 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Congenital Toxoplasmosis |
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Hydrocephalus, Thrombocytopenia, Microphthalmia, Anemia, Ascites |
ORPHA:858 |
Eosinophilic Gastroenteritis |
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Malabsorption, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, ... |
ORPHA:2070 |
Premature Ovarian Failure 12 |
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Microphthalmia |
OMIM:616947 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
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HbH hemoglobin, Patent ductus arteriosus, Hypochromic microcytic anemia, Reduced alpha/beta synth... |
OMIM:141750 |
Dermatitis Herpetiformis |
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Skin vesicle, Microcytic anemia, Erythema |
ORPHA:1656 |
Melorheostosis, Isolated |
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Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Juvenile Polyposis Of Infancy |
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Adenomatous colonic polyposis, Melena, Intestinal bleeding, Atrial septal defect, High, narrow pa... |
ORPHA:79076 |
Congenital Disorder Of Glycosylation, Type Iq |
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Elevated hepatic transaminase, Microcytic anemia, Dry skin, Cutis laxa |
OMIM:612379 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
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Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, H... |
ORPHA:369 |
Body Mass Index Quantitative Trait Locus 19 |
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Hypertriglyceridemia, Hyperlipidemia, Obesity |
OMIM:617885 |
Heme Oxygenase 1 Deficiency |
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Increased circulating ferritin concentration, Hepatomegaly, Coombs-positive hemolytic anemia, Ele... |
OMIM:614034 |
Livedoid Vasculopathy |
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Leukocytosis, Abnormal circulating lipid concentration, Polycythemia, Hyperhomocystinemia, Pancyt... |
ORPHA:542643 |
Spherocytosis, Type 1 |
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Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosi... |
OMIM:182900 |
Thrombocythemia 1 |
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Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
X-Linked Agammaglobulinemia |
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Failure to thrive, Malabsorption, Hypocalcemia, Glossoptosis, Abnormality of the lymphatic system... |
ORPHA:47 |
Acute Interstitial Pneumonia |
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Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:79126 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Hepatomegaly, Increased sarcoplasmic glycogen, Hepatocellular adenoma, Cholestasis, Esophageal va... |
ORPHA:370 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
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Decreased liver function, Failure to thrive, Atrial septal defect, Hyperbilirubinemia, Pulmonic s... |
OMIM:614300 |
Craniotelencephalic Dysplasia |
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Optic nerve hypoplasia, Frontal encephalocele, Arrhinencephaly, Microphthalmia |
OMIM:218670 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
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Microphthalmia |
OMIM:251700 |
Hemangioma-Thrombocytopenia Syndrome |
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Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
Cystic Echinococcosis |
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Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia, Elev... |
ORPHA:400 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Vascular Malformation, Primary Intraosseous |
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Hypochromic anemia |
OMIM:606893 |
Wolcott-Rallison Syndrome |
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Double outlet right ventricle, Exocrine pancreatic insufficiency, Chronic kidney disease, Hepatom... |
ORPHA:1667 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:618398 |
Diamond-Blackfan Anemia 20 |
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Anemia, Erythroid hypoplasia |
OMIM:618313 |
Hepatic Veno-Occlusive Disease |
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Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Renal insufficiency, Incr... |
ORPHA:890 |
Primary Intestinal Lymphangiectasia |
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Peritoneal effusion, Hypomagnesemia, Lymphopenia, Hypocalcemia, Hypoproteinemia, Increased stool ... |
ORPHA:90362 |
Solute carrier family 4 (anion exchanger), member 1 |
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Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:109270 |
Blackfan-Diamond Anemia |
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High palate, Ventricular septal defect, Horseshoe kidney, Reticulocytopenia, Abnormal heart morph... |
ORPHA:124 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Failure to thrive, Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase co... |
OMIM:235555 |
Rh-Null, Regulator Type |
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Hemolytic anemia, Jaundice, Unconjugated hyperbilirubinemia, Stomatocytosis |
OMIM:268150 |
Autoinflammation With Infantile Enterocolitis |
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Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Immunodeficiency 46 |
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Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
Glycogen Storage Disease Iii |
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Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepati... |
OMIM:232400 |
Barth Syndrome |
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Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia |
OMIM:302060 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
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Hypertriglyceridemia |
OMIM:615924 |
Thrombotic Thrombocytopenic Purpura |
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Decreased serum creatinine, Hematuria, Proteinuria, Renal insufficiency, Acute kidney injury, Mic... |
ORPHA:54057 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
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Anemia, Hypercalcemia |
ORPHA:2668 |
Dent Disease 2 |
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Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... |
OMIM:300555 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic ... |
OMIM:607765 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Decreased liver function, Failure to thrive, Gastroesophageal reflux, Left ventricular hypertroph... |
OMIM:616974 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
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Abnormal circulating copper concentration |
ORPHA:521411 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Microcytic anemia, Hypochromic anemia |
OMIM:618451 |
Caroli Disease |
|