Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Splenomegaly, Unconjugated hyperbilirubinemia, Elevated tran... |
ORPHA:766 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Type II diabetes mellitus, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corp... |
OMIM:616860 |
Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies |
OMIM:614164 |
Malaria |
|
Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia |
ORPHA:673 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate production, Sple... |
OMIM:237800 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Weight loss, Circulating... |
OMIM:613673 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... |
OMIM:619868 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Hypocholesterolemia, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo... |
OMIM:206200 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in in... |
OMIM:232700 |
Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Anisop... |
OMIM:616689 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Small for gestational age, Hyperbilirubinemia, Erythroid hyperplasia, Reticuloc... |
OMIM:224120 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Splenomegaly, Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbiliru... |
OMIM:620010 |
Edinburgh Malformation Syndrome |
|
Failure to thrive, Neonatal hyperbilirubinemia |
OMIM:129850 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... |
OMIM:601775 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp... |
OMIM:246700 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity, Hypercholesterolemia |
OMIM:608320 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... |
OMIM:300908 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutropenia, Hyperbilirubinemi... |
ORPHA:158057 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:301083 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... |
ORPHA:3202 |
Rotor Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:3111 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt... |
ORPHA:232 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL cholesterol concentration, H... |
OMIM:610947 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... |
OMIM:607616 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... |
ORPHA:71275 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Diabetes mellitus, L... |
OMIM:612526 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Failure to thrive, Hyp... |
OMIM:605814 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia, Type II diabetes mellitus, Insulin resistance, Failure to thrive, Hypoglyce... |
ORPHA:181393 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Hyperbilirubinemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenome... |
OMIM:235700 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... |
OMIM:232800 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentratio... |
OMIM:616278 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Failure ... |
OMIM:267700 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... |
ORPHA:288 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytop... |
OMIM:603552 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... |
ORPHA:247598 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Obesity, Increased LDL cholesterol concentration, ... |
OMIM:615703 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:182900 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... |
OMIM:615558 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Neonatal hyperbilirubinemia, Increased circulating ferritin co... |
OMIM:618892 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Smal... |
ORPHA:324575 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Macrocytic anemia, T... |
OMIM:300835 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly |
OMIM:185000 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosi... |
OMIM:266200 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Failure to thrive, Decreased LDL cholesterol concentration, Decreased HDL ch... |
OMIM:616834 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A... |
OMIM:618858 |
Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619130 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Hypoglycemia, Thrombocytopenia |
ORPHA:67048 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Increased body weight |
ORPHA:890 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Decreased body weight, Type I diabetes mellitus, Elevate... |
ORPHA:96180 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Hypoglycemic seizures, Obesity, Hyperbilirubinemia |
OMIM:609734 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia |
OMIM:214900 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
Elliptocytosis 2 |
|
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating alpha-fetoprotein concentration, Failure to thrive, Hypoglycemia, Hyperammon... |
OMIM:617049 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, ... |
OMIM:606176 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
Preeclampsia |
|
Small for gestational age, Elevated circulating creatinine concentration, Thrombocytopenia, Type ... |
ORPHA:275555 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Failure to thrive in infancy, Abnormal circulating leucine concentr... |
ORPHA:6 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Increased circulating ferritin concentration, Hemophagocytosis, Throm... |
OMIM:613101 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:144600 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... |
ORPHA:231226 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
OMIM:306000 |
Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating threonine concentration, Abnormal circulating arginine concentration, Pyrido... |
ORPHA:79096 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Decreased body weight, Lymphocytosis, Hyperbilirubi... |
ORPHA:1667 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... |
ORPHA:293964 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Failure to thrive, Hypo... |
OMIM:251880 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Squalene Synthase Deficiency |
|
Knee flexion contracture, Decreased LDL cholesterol concentration, Elbow flexion contracture, Ele... |
OMIM:618156 |
Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Sideroblastic anemia, Diabetes mellitus, Thrombocytopenia, Neutropenia |
OMIM:598500 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia |
OMIM:604498 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia, Abnormality of iron homeostasis, Glucose intolerance |
ORPHA:75563 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Steatorrhea, Failure to thrive, Hypocholesterolemia, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:607765 |
Hemochromatosis, Type 4 |
|
Anemia, Impaired glucose tolerance, Elevated transferrin saturation, Diabetes mellitus, Increased... |
OMIM:606069 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Stomatocytosis, Anemia, Giant platelets, Reticulocytosis, Impaired pla... |
OMIM:210250 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... |
OMIM:616959 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Thrombocytopenia, Amelogenesis imperfecta, Elevated circulating creatine kinas... |
OMIM:614727 |
Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Elevated circulating C-reactive prot... |
ORPHA:91547 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thriv... |
OMIM:603553 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia, Hernia, Hiatus hernia |
ORPHA:101009 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Decreased circulating cortisol level, Anemia, Elevated circulating creatine kinase ... |
OMIM:618838 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Insulin resistance, Failure to thrive, Hypoglycemia, Neonatal hyperbil... |
ORPHA:73272 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis |
OMIM:268150 |
Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:269920 |
Pearson Marrow-Pancreas Syndrome |
|
Anemia, Reticulocytopenia, Small for gestational age, Hyperbilirubinemia, Refractory sideroblasti... |
OMIM:557000 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Failure to thrive, Diabetes mellitus, Increased ... |
OMIM:613845 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Roch-Leri Mesosomatous Lipomatosis |
|
Multiple lipomas, Thrombocytopenia |
ORPHA:529 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Pancytopenia, Failure to thrive, Increased circulating... |
OMIM:616050 |
Acute Myelomonocytic Leukemia |
|
Anemia, Weight loss, Leukocytosis, Eosinophilia, Thrombocytopenia |
ORPHA:517 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Hypoalbumi... |
ORPHA:64743 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia |
OMIM:133180 |
Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
Chylomicron Retention Disease |
|
Steatorrhea, Failure to thrive, Hypocholesterolemia, Hypertriglyceridemia, Acanthocytosis |
ORPHA:71 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Failure to thrive, Hypoglycemia, Hyperammone... |
OMIM:251000 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... |
OMIM:187800 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hypoglycemia, Hyperbilirubinemia, Neonatal hypoglycemia |
OMIM:613986 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia |
OMIM:616299 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Bachmann-Bupp Syndrome |
|
Hypoglycemia, Hyperbilirubinemia, Large for gestational age |
OMIM:619075 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Failure to thrive, Extramedullary hematopoiesis, Thrombocytopenia, Neutropeni... |
OMIM:615285 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytopenia, Anemia... |
ORPHA:98826 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Failure to thrive, Flexion contracture, Camptodactyly, Anisocytosis |
OMIM:604273 |
Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Hyperb... |
ORPHA:822 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Hyperbilirubinemia, Splenomegaly, Steatorrhea |
OMIM:235555 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormal serum bile acid concentration, Hyperbilirubinemia, Steatorrhea, Failure to thrive, Extra... |
ORPHA:79303 |
Transaldolase Deficiency |
|
Anemia, Hepatosplenomegaly, Increased serum bile acid concentration, Abnormal circulating glutami... |
ORPHA:101028 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypertyrosinemia, Conjug... |
OMIM:617156 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Decreased body weight, Hyperinsulinemic hypoglycemia, A... |
ORPHA:2298 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Increased blood urea nitrogen, Failure to thrive, Hypoglycemia, Elevated circulatin... |
OMIM:617872 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:616176 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Failure to thrive, Steatorrhea, Elevated circulating phytanic acid concentra... |
OMIM:266510 |
Hepatocellular Carcinoma |
|
Anemia, Weight loss, Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Polycythemia, Hy... |
ORPHA:88673 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin |
OMIM:618528 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Decreased body weight |
OMIM:613606 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophilia, Impaired oxidative burst, T... |
OMIM:226990 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Anemia, Normocytic anemia, Hyperbilirubinemia, Elevated circulating cr... |
OMIM:611881 |
Propionic Acidemia |
|
Anemia, Hyperglycinemia, Pancytopenia, Failure to thrive, Hypoglycemia, Hyperammonemia, Thrombocy... |
OMIM:606054 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Hyperlipidemia |
ORPHA:364 |
Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia |
OMIM:210500 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... |
OMIM:618278 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617243 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Failure to thrive, Hyperbilirubinemia, Elevated circulating creatine kinase c... |
OMIM:614300 |
Potocki-Lupski Syndrome |
|
Small for gestational age, Failure to thrive, Hypocholesterolemia |
OMIM:610883 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Elevated circulating propionylcar... |
OMIM:614857 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Neonatal hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia,... |
ORPHA:348 |
Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Large for gestational ag... |
ORPHA:552 |
Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Failure to thrive, Fola... |
OMIM:258900 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
Leishmaniasis |
|
Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, ... |
ORPHA:507 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentration,... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentration,... |
OMIM:618839 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin level, Umbilical hernia, Conjugated hyperbilirubinemia |
ORPHA:95715 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Incre... |
OMIM:613011 |
Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Hyperbilirubinemia, Polycythemia |
OMIM:606812 |
Thrombotic Thrombocytopenic Purpura |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis |
ORPHA:54057 |
Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Abnormal circulating porphyrin concentration, Leukopenia, Hemolytic an... |
ORPHA:79277 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Splenomegaly |
ORPHA:664 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Glycogen Storage Disease Iii |
|
Hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Glycosuria, Failure to thrive, Arthrogryposis multiplex congenita, Conjugated hyperbilirubinemia |
OMIM:613404 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Umbilical hernia |
ORPHA:95717 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Nonketotic hypoglycemia, Decreased plasma carni... |
ORPHA:99901 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... |
OMIM:159550 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Increased serum bile acid concentration, Conjugated hyperbilirubinemia |
OMIM:243300 |
Hypermanganesemia With Dystonia 1 |
|
Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity, Polycy... |
OMIM:613280 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Failure to thrive, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Failure to thrive, Lipodystrophy, Elevated circulatin... |
OMIM:618048 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation... |
ORPHA:79237 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
Riboflavin Deficiency |
|
Hypoglycemia, Elevated circulating acylcarnitine concentration |
OMIM:615026 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Failure to thrive, Hyperammonemia, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:79312 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Increased circulating free fatty acid level, Contractures of the large joints, ... |
ORPHA:2457 |
Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Hyperbilirubinemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hypoc... |
OMIM:259720 |
Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Knee flexion contracture, Decreased plasma free carnitine, Nonketotic ... |
OMIM:608836 |
Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia, Neonatal death, Camptodactyly, Stillbirth |
OMIM:619751 |
Glycogen Storage Disease Ixb |
|
Hypoglycemia, Hyperuricemia, Splenomegaly |
OMIM:261750 |
Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... |
OMIM:173590 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Increased facial adipose tissue, Type II diabetes mellitus, Reduced subcutaneou... |
OMIM:151660 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:2123 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Autoimmune hemolytic anemia |
ORPHA:90036 |
Alg12-Cdg |
|
B lymphocytopenia, Camptodactyly, Failure to thrive, Recurrent hypoglycemia, Hyponatremia, Hypoch... |
ORPHA:79324 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... |
OMIM:155100 |
Abetalipoproteinemia |
|
Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal circulating apolipo... |
ORPHA:14 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Mic... |
ORPHA:848 |
Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Anemia, Thrombocytopenia |
OMIM:615715 |
Overlap Myositis |
|
Leukopenia, Abnormal circulating lipid concentration, Abnormality of connective tissue, Elevated ... |
ORPHA:206572 |
Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Glycosuria, Failure to thrive, Postprandial hyperglycemia, Hyperlipidemia |
ORPHA:2089 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Failure to thrive, Thrombocytopenia, Arthrogryposis multiplex congenit... |
OMIM:208085 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ... |
OMIM:308240 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Failure to thrive, Hypoglycem... |
ORPHA:3008 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Joint contracture of the 5th finger, Thrombocytopenia, Leukemia, Hypoplastic anemia |
OMIM:194350 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Neutropenia, Increased circulating ferritin concentra... |
ORPHA:158061 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Hyperammonemia, Neutropenia, Anemia |
ORPHA:289916 |
Rhabdoid Tumor |
|
Anemia, Thrombocytopenia, Hypercalcemia, Weight loss |
ORPHA:69077 |
Drug-Induced Lupus Erythematosus |
|
Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevat... |
ORPHA:231111 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:601847 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly |
OMIM:615010 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Hyperammonemia, Macrocytic anemia, Thrombocytopenia |
ORPHA:27 |
Rapidly Involuting Congenital Hemangioma |
|
Lipoatrophy, Thrombocytopenia |
ORPHA:141184 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Umbilical hernia |
ORPHA:95716 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Failure to thrive, Hyperbilirubinemia, Decreased serum bile acid concentration |
OMIM:214950 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... |
OMIM:619662 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... |
ORPHA:86839 |
Graft Versus Host Disease |
|
Hyperbilirubinemia, Fasciitis, Hepatosplenomegaly, Failure to thrive, Lipodystrophy, Hemophagocyt... |
ORPHA:39812 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Anemia, Camptodactyly, Failure to thrive, Elevated circulating creatinine concentration, Thromboc... |
OMIM:608104 |
Immunodeficiency 46 |
|
Failure to thrive, Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529799 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Failure to thrive, Increased ... |
OMIM:278000 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Flexion contracture, Lymphopenia, Failure to thrive, Lipodystrophy, Panniculitis, Thrombo... |
OMIM:617591 |
Wilson Disease |
|
Anemia, Chondrocalcinosis, Hemolytic anemia, Glycosuria, Decreased circulating ceruloplasmin conc... |
OMIM:277900 |
Necrotizing Enterocolitis |
|
Abnormal glucose homeostasis, Small for gestational age, Leukocytosis, Hyponatremia, Hyperglycemi... |
ORPHA:391673 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Failure to thrive, Conjugated hyperbilirubinemia |
OMIM:619484 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:211600 |
Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Tangier Disease |
|
Anemia, Hepatosplenomegaly, Hypocholesterolemia, Thrombocytopenia, Hypertriglyceridemia |
ORPHA:31150 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Neonatal death |
OMIM:618810 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hyperbilirubinemia, Decreased body weight, Elevated circulating long chain fatty acid concentration |
OMIM:614886 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Coombs-positive hemolytic anemia, Type I diabetes mellitus, Autoimmune thrombocytopenia, ... |
OMIM:304790 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:79302 |
Cog4-Cdg |
|
Hepatosplenomegaly, Thrombocytopenia, Failure to thrive in infancy, Hypercholesterolemia |
ORPHA:263501 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Truncal obesity, Hypercholest... |
OMIM:615812 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Hyperalaninemia, Increased serum pyruvate |
OMIM:266150 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Abnormality of iron homeostasis, Incr... |
OMIM:231100 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Flexion contracture, Abnormal subcutaneous fat tissue distribution, Steatorrhea, Failure to thriv... |
OMIM:212065 |
Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:615193 |
Isolated Agammaglobulinemia |
|
Anemia, Cellulitis, Abnormality of neutrophils, Failure to thrive, Thrombocytopenia, Abnormal lym... |
ORPHA:229717 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Anemia |
OMIM:618182 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... |
OMIM:144250 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Glycosuria, Unconjugated hyperbi... |
ORPHA:447 |
Methylmalonic Aciduria, Cblb Type |
|
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Failure to thrive, Hyperammonemia,... |
OMIM:251110 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Hyperbilirubinemia, Splenomegaly, Steatorrhea |
OMIM:613812 |
Congenital Rubella Syndrome |
|
Splenomegaly, Thrombocytopenia, Type I diabetes mellitus, Anemia |
ORPHA:290 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612926 |
Slc35A1-Cdg |
|
Cellulitis, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Transcobalamin Deficiency |
|
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia |
ORPHA:859 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619685 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612924 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Small for gestational age, Diabetic ketoacidosis, Hypoglycemia, Postprandial hy... |
OMIM:262190 |
Methylmalonic Aciduria, Cbla Type |
|
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Failure to thrive, Hyperammonemia,... |
OMIM:251100 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Thrombocytopenia, Sideroblastic anemia |
OMIM:617021 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Anemia, Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Small for gestational age... |
OMIM:277380 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Failure to thrive, Severe B lymphocytopenia,... |
OMIM:603554 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant ... |
OMIM:231200 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Failure to thrive in infancy, Anemia |
ORPHA:858 |
Glycogen Storage Disease Ixc |
|
Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia, Splenomegaly |
OMIM:613027 |
Smith-Kingsmore Syndrome |
|
Hypoglycemia, Thrombocytopenia, Large for gestational age, Umbilical hernia |
OMIM:616638 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Weight loss, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticu... |
ORPHA:35858 |
Specific Granule Deficiency 2 |
|
Anemia, Absent neutrophil specific granules, Failure to thrive, Amelogenesis imperfecta, Thromboc... |
OMIM:617475 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Fetal Gaucher Disease |
|
Flexion contracture, Pancytopenia, Arthrogryposis multiplex congenita, Thrombocytopenia, Stillbir... |
ORPHA:85212 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Hypokalemia, Microangiopathic hemolytic anemia, Reticulocytosis,... |
ORPHA:90038 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612925 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Hiatus hernia |
OMIM:609727 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:235400 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
X-Linked Agammaglobulinemia |
|
Anemia, Weight loss, Cellulitis, Failure to thrive, Thrombocytopenia, Hypocalcemia, Neutropenia |
ORPHA:47 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Failure to thrive, Hemophagocytosis, Elevated circulating C-rea... |
OMIM:619644 |
Mirage Syndrome |
|
Leukopenia, Anemia, Decreased body weight, Hyperkalemia, Lymphopenia, Hypoplastic spleen, Hypogly... |
OMIM:617053 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Thrombocytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly |
ORPHA:210136 |
Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
Intermediate Osteopetrosis |
|
Hypocalcemia, Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Type I diabetes mellitus, Autoimmune hemolytic anemia, Hemophagocytosis, Throm... |
OMIM:301078 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
Lathosterolosis |
|
Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Anisopoikilocytosis, Hepatosp... |
OMIM:607330 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:619151 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
Gaucher Disease, Type Iii |
|
Thrombocytopenia, Decreased body weight, Splenomegaly, Pancytopenia |
OMIM:231000 |
Intrahepatic Cholestasis Of Pregnancy |
|
Small for gestational age, Hyperbilirubinemia, Increased serum bile acid concentration |
ORPHA:69665 |
Cystic Echinococcosis |
|
Hyperbilirubinemia, Splenic cyst, Weight loss, Eosinophilia |
ORPHA:400 |
Alg8-Cdg |
|
Anemia, Small for gestational age, Abnormality of subcutaneous fat tissue, Camptodactyly, Failure... |
ORPHA:79325 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thromb... |
OMIM:185070 |
Fructose Intolerance, Hereditary |
|
Hyperuricemia, Glycosuria, Hypophosphatemia, Hyperbilirubinemia, Failure to thrive, Hypoglycemia,... |
OMIM:229600 |
Primary Myelofibrosis |
|
Anemia, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis,... |
ORPHA:824 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Hemolytic anemia, Hyperkalemia, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:608885 |
Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Failure to thrive, Giant plate... |
OMIM:169400 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Neonatal death, Conjugated hyperb... |
OMIM:614887 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia |
OMIM:222300 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Failure to thrive, Hypoglycemia, Hyponatremia |
OMIM:614736 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Hypoamylasemia, Imp... |
ORPHA:811 |
Babesiosis |
|
Leukopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia |
ORPHA:108 |
Aicardi-Goutieres Syndrome 4 |
|
Thrombocytopenia, Splenomegaly, Pancytopenia, Hepatosplenomegaly |
OMIM:610333 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Neutropenia, Pan... |
ORPHA:158048 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Anemia, Thrombocytopenia |
OMIM:618116 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Weight loss, Leukocytosis, Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:90060 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:240200 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Hyperammonemia, Weight loss |
ORPHA:79242 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Anemia, Small for gestational age, Unconjugated hyperbilirubinemia, Pancytopenia, Failure to thri... |
OMIM:613658 |
Congenital Enterovirus Infection |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Hyperammonemia, Leukocytosis, Thrombocytopeni... |
ORPHA:292 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
Pseudo-Torch Syndrome 3 |
|
Anemia, Congenital thrombocytopenia, Increased circulating ferritin concentration, Leukocytosis |
OMIM:618886 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytop... |
ORPHA:540 |
Mevalonic Aciduria |
|
Anemia, Hepatosplenomegaly, Elevated circulating creatine kinase concentration, Failure to thrive... |
OMIM:610377 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Failure to thrive, Neonatal hyperbilirubinemia, Hyperch... |
ORPHA:90674 |
Caroli Syndrome |
|
Leukopenia, Hypersplenism, Hyperbilirubinemia, Leukocytosis, Thrombocytopenia, Conjugated hyperbi... |
ORPHA:480520 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:274150 |
Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia, Flexion contracture |
OMIM:612952 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Enamel hypoplasia, Pancytopenia, Elevated circulating creatine kinase concentration, Failure to t... |
OMIM:614576 |
Griscelli Syndrome |
|
Leukopenia, Abnormal circulating lipid concentration, Abnormality of neutrophils, Thrombocytopeni... |
ORPHA:381 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Thrombocytopenia, Normochromic anemia, Elevated circulating creatine k... |
OMIM:618775 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Hyperalaninemia, Elevated circulating tetradecanoylcarnitine concentration, Elevated circulating ... |
OMIM:619355 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia, Thrombocytopenia |
OMIM:617710 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... |
ORPHA:90363 |
Parenteral Nutrition-Associated Cholestasis |
|
Small for gestational age, Abnormal circulating fatty-acid concentration, Hyperlipidemia, Splenom... |
ORPHA:567983 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypoglycemia, Thrombocytopenia |
OMIM:611126 |
Aggressive Systemic Mastocytosis |
|
Anemia, Weight loss, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD2... |
ORPHA:98850 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia, Thrombocytopenia, Hip contracture |
ORPHA:464321 |
Acquired Purpura Fulminans |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration |
ORPHA:49566 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Fasting hypoglycemia, Hypoglycemia, Impaired gluconeogenesis, Low plasma citrulline |
OMIM:261680 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:603909 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:293939 |
Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Hypocalcemia, Splenomegaly |
OMIM:259700 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... |
OMIM:617443 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Stomatocytosis, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:168577 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Thrombocytopenia, Hyperbilirubinemia, Anemia |
ORPHA:163979 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Hypophosphatemia, Large for gestational age, Diabetes mellitus, Hypoglycemia, Hypouri... |
OMIM:616026 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia |
OMIM:603585 |
Dengue Fever |
|
Leukopenia, Thrombocytopenia, Hypoproteinemia |
ORPHA:99828 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Large for gestational age, Failure to thrive, Thrombocytopenia, Neutropenia, Umbilical he... |
OMIM:614520 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Anemia, Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Fa... |
ORPHA:264580 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Abnormal d... |
OMIM:601399 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Thrombocytopenia, Splenomegaly, Reticulocytosis |
OMIM:611490 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Type I diabetes mellitus, Pancytopenia, Autoimmune thromb... |
OMIM:614700 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia |
OMIM:613839 |
Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Hyperammonemia |
OMIM:616483 |
Vexas Syndrome |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia |
OMIM:301054 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss, Abnormal neutrophil count, Leukocytosis, Myeloproliferative disorder, Thrombocytopen... |
ORPHA:3226 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia, Increased circulating ferritin concentration |
ORPHA:3240 |
Liver Disease, Severe Congenital |
|
Leukopenia, Anemia, Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Lym... |
OMIM:619991 |
Lysinuric Protein Intolerance |
|
Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Increased serum zinc, Hyperalaninemia... |
ORPHA:470 |
Isovaleric Acidemia |
|
Leukopenia, Thrombocytopenia, Pancytopenia |
OMIM:243500 |
Caroli Disease |
|
Weight loss, Abnormal circulating alpha-fetoprotein concentration, Leukocytosis, Splenomegaly, Co... |
ORPHA:53035 |
Shigellosis |
|
Microangiopathic hemolytic anemia, Abnormal blood ion concentration, Hypoglycemia, Leukocytosis, ... |
ORPHA:810 |
Avian Influenza |
|
Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating... |
ORPHA:454836 |
Stt3B-Cdg |
|
Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut... |
OMIM:187900 |
Systemic Lupus Erythematosus |
|
Leukopenia, Thrombocytopenia, Hemolytic anemia |
OMIM:152700 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Umbilical hernia |
ORPHA:90673 |
Good Syndrome |
|
Diabetes mellitus, Anemia, Thrombocytopenia, Abnormal leukocyte morphology |
ORPHA:169105 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... |
OMIM:153670 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Failure to thrive, Thrombocytopenia |
OMIM:615597 |
Autoimmune Hepatitis |
|
Increased total bilirubin, Splenomegaly |
ORPHA:2137 |
Schimke Immuno-Osseous Dysplasia |
|
Anemia, Small for gestational age, Lymphopenia, Failure to thrive, Hyperlipidemia, Decreased prop... |
ORPHA:1830 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta |
OMIM:612783 |
Isolated Biliary Atresia |
|
Small for gestational age, Failure to thrive, Severe failure to thrive, Xanthelasma, Splenomegaly... |
ORPHA:30391 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Dubowitz Syndrome |
|
Hypocholesterolemia, Inguinal hernia, Aplastic anemia, Acute lymphoblastic leukemia |
OMIM:223370 |
Felty Syndrome |
|
Anemia, Weight loss, Cellulitis, Thrombocytopenia, Neutropenia, Splenomegaly, Abnormal lymphocyte... |
ORPHA:47612 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Elevated circulating palmitole... |
ORPHA:79282 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
Ogden Syndrome |
|
Minimal subcutaneous fat, Hyperbilirubinemia, Maternal diabetes, Polycythemia, Inguinal hernia, I... |
OMIM:300855 |
Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
Idiopathic Aplastic Anemia |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:88 |
Neonatal Lupus Erythematosus |
|
Anemia, Neutropenia, Hemolytic anemia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Splenomegaly |
ORPHA:398124 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, ... |
OMIM:615751 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Elevated circulating phytanic acid concentration, Small for gestational age, Increased circulatin... |
OMIM:614866 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Anemia, Hypophosphatemia, Mildly elevated creatine kinase, Elevated circulating creatine kinase c... |
OMIM:619743 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni... |
OMIM:277400 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Failure to thrive, Thrombocytopenia |
OMIM:616577 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Small for gestational age, Elevated circulating creatine kinase concentration, Thromb... |
OMIM:301056 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia, Failure to thrive |
OMIM:244450 |
Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, Splenomegaly,... |
ORPHA:100026 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Small for gestational age, Pancytopenia, Persistence of hemoglobi... |
OMIM:260400 |
Snakebite Envenomation |
|
Thrombocytopenia, Hyponatremia |
ORPHA:449285 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomegaly |
OMIM:150550 |
Tularemia |
|
Anemia, Thrombocytopenia, Leukocytosis |
ORPHA:3392 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Thrombocytopenia, Abnormal platelet aggregation |
OMIM:614171 |
Myh9-Related Disease |
|
Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased mean platelet volume, Giant p... |
ORPHA:182050 |
3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Flexion contracture, Neonatal hypoglycemia, Thrombocytopenia, Neutropenia |
OMIM:616271 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Weight loss, Normocytic anemia, Decreased circulating cortisol level, Hyperkalemia... |
ORPHA:199299 |
Transaldolase Deficiency |
|
Anemia, Small for gestational age, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocy... |
OMIM:606003 |
Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Flexion contracture, Thrombocytopenia, Neutropenia, Splenomegaly, Hypoalbumin... |
OMIM:617303 |
Reynolds Syndrome |
|
Calcinosis, Hyperbilirubinemia, Steatorrhea, Lymphopenia, Splenomegaly |
OMIM:613471 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, W... |
ORPHA:98849 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Anemia, Insulin resistance, Increased blood urea nitrogen, Hypoglycemia, Elevat... |
ORPHA:230 |
Wilson Disease |
|
Anemia, Weight loss, Failure to thrive, Thrombocytopenia, Splenomegaly, Increased body weight |
ORPHA:905 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Thrombocytopenia, Refractory anemia |
OMIM:231095 |
Lig4 Syndrome |
|
Failure to thrive, Thrombocytopenia, Pancytopenia |
OMIM:606593 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Failu... |
ORPHA:331206 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Flexion contracture, Impaired glucose tolerance, Flexion contracture of ... |
OMIM:256040 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Thrombocytopenia, Leukocytosis, Hyponatremia |
ORPHA:83601 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cellulitis, Lymphocytosis, Failure to thrive, Elevated circulating C-reactive protein concentrati... |
OMIM:617718 |
Sepsis In Premature Infants |
|
Anemia, Decreased body weight, Small for gestational age, Elevated circulating C-reactive protein... |
ORPHA:90051 |
Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:259710 |
Chédiak-Higashi Syndrome |
|
Splenomegaly, Anemia, Neutropenia, Abnormal platelet function, Pancytopenia, Hepatosplenomegaly, ... |
ORPHA:167 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
Castleman Disease |
|
Anemia, Weight loss, Decreased mean corpuscular volume, Elevated circulating C-reactive protein c... |
ORPHA:160 |
Bacterial Toxic-Shock Syndrome |
|
Cellulitis, Fasciitis, Hypocalcemia, Increased circulating metamyelocyte count, Elevated circulat... |
ORPHA:36234 |
Yellow Fever |
|
Hyperbilirubinemia, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosi... |
ORPHA:99829 |
Immunodeficiency 22 |
|
Anemia, Failure to thrive, Panniculitis, Decreased proportion of CD4-positive helper T cells, Thr... |
OMIM:615758 |
Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Weight loss, Pancytopenia, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:520 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Pancytopenia, Failure to thrive, Eosinophilia, Thrombocytopenia |
ORPHA:90045 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia |
ORPHA:186 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia, Elevated hepatic iron concentration |
OMIM:614946 |
Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
Hardikar Syndrome |
|
Hypersplenism, Hyperbilirubinemia, Hepatosplenomegaly, Failure to thrive, Thrombocytopenia, Splen... |
OMIM:301068 |
Degcags Syndrome |
|
Leukopenia, Anemia, Small for gestational age, Hyperbilirubinemia, Abnormal spleen morphology, Pa... |
OMIM:619488 |
Pearson Syndrome |
|
Anemia, Hyperalaninemia, Small for gestational age, Glycosuria, Hypophosphatemia, Hypokalemia, Re... |
ORPHA:699 |
Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Thrombocytopen... |
OMIM:139090 |
Lysinuric Protein Intolerance |
|
Leukopenia, Anemia, Intraalveolar phospholipid accumulation, Failure to thrive, Hyperammonemia, I... |
OMIM:222700 |
Immunodeficiency 47 |
|
Leukopenia, Normocytic anemia, Decreased circulating copper concentration, Failure to thrive, Acc... |
OMIM:300972 |
Senior-Boichis Syndrome |
|
Increased total bilirubin, Anemia, Hepatosplenomegaly |
ORPHA:84081 |
Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Thrombocytopenia, Camptodactyly |
OMIM:619980 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hyperbilirubinemia, Umbilical hernia |
OMIM:218700 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Erythroid hypoplasia, Hepatosplenomegaly, Lymphopen... |
OMIM:612541 |
Pancreatic And Cerebellar Agenesis |
|
Anemia, Flexion contracture, Reduced subcutaneous adipose tissue, Failure to thrive, Hypoglycemia... |
OMIM:609069 |
Prolidase Deficiency |
|
Failure to thrive, Thrombocytopenia, Splenomegaly, Anemia |
OMIM:170100 |
Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
Cyclic Neutropenia |
|
Cellulitis, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia |
ORPHA:2686 |
Schimke Immunoosseous Dysplasia |
|
Anemia, Abnormal T cell morphology, Small for gestational age, Lymphopenia, Pancytopenia, Thrombo... |
OMIM:242900 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Hyperammonemia |
OMIM:253270 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Anemia, T lymphocytopenia, Pancytopenia, Hepatosplenomegaly, ... |
ORPHA:79124 |
Letterer-Siwe Disease |
|
Thrombocytopenia, Anemia, Neutropenia, Hepatosplenomegaly |
OMIM:246400 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hemolytic anemia, Amelogenesis imperfecta, Thrombocytopenia, Hypocalcification of d... |
ORPHA:169090 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Panniculitis, Thrombocytop... |
ORPHA:508542 |
Gaucher Disease, Type I |
|
Anemia, Hypersplenism, Pancytopenia, Thrombocytopenia, Splenomegaly |
OMIM:230800 |
Hoyeraal-Hreidarsson Syndrome |
|
Failure to thrive, Thrombocytopenia, Abnormal leukocyte morphology, Anemia |
ORPHA:3322 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia, Normochromic anemia, Hypoalbuminemia |
OMIM:254900 |
Cranioectodermal Dysplasia 2 |
|
Inguinal hernia, Hyperbilirubinemia, Polysplenia, Splenomegaly |
OMIM:613610 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Pseudo-Torch Syndrome 1 |
|
Failure to thrive, Thrombocytopenia, Splenomegaly, Umbilical hernia |
OMIM:251290 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Anemia, Camptodactyly, Giant platelets, Thrombocytopenia, Failure to thrive in infancy |
OMIM:611209 |
Gaucher Disease, Perinatal Lethal |
|
Anemia, Decreased body weight, Arthrogryposis multiplex congenita, Hepatosplenomegaly, Thrombocyt... |
OMIM:608013 |
Portal Hypertension, Noncirrhotic, 2 |
|
Thrombocytopenia, Splenomegaly |
OMIM:619463 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Giant neutrophil granules, Hemophagocytosis, Impaired neutrophil bactericidal... |
OMIM:214500 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Pancytopenia, Failure to thrive, Thrombocytopenia, Aplastic anemia, Neutropenia |
OMIM:613989 |
Fanconi Anemia, Complementation Group E |
|
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Thrombocytopenia, Neutropenia... |
OMIM:600901 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Congenital thrombocytopenia, Aplastic anemia |
OMIM:605432 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Steatorrhea, Failure to thrive, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Hypokalemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Lym... |
ORPHA:99826 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia, Neonatal hypoglycemia |
ORPHA:572798 |
X-Linked Intellectual Disability, Nascimento Type |
|
Neonatal hyperbilirubinemia, Neutropenia |
ORPHA:163956 |
Fanconi Anemia, Complementation Group A |
|
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Thrombocytopenia, Neutropenia... |
OMIM:227650 |
Fanconi Anemia, Complementation Group C |
|
Anemia, Flexion contracture, Reticulocytopenia, Small for gestational age, Pancytopenia, Thromboc... |
OMIM:227645 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Inguinal hernia, Thrombocytopenia |
ORPHA:96181 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Decreased body weight, Hyperbilirubinemia, Failure to thrive, Overweight, Obesity |
OMIM:619475 |
Smith-Lemli-Opitz Syndrome |
|
Failure to thrive, Hypocholesterolemia, Elevated 7-dehydrocholesterol, Splenomegaly, Hypoalbuminemia |
OMIM:270400 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Thrombocytopenia, Pancytopenia |
OMIM:613987 |
Zika Virus Disease |
|
Thrombocytopenia |
ORPHA:448237 |
Hermansky-Pudlak Syndrome 5 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Absent platelet dense granules |
OMIM:614074 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Small for gestational age, Pure red cell a... |
ORPHA:124 |
Boutonneuse Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:83313 |
Pediatric-Onset Graves Disease |
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Failure to thrive, Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil anti... |
ORPHA:525731 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hyperbilirubinemia, Failure to thrive, Inguinal hernia, Increased circulating ferritin concentrat... |
OMIM:619534 |
Tyrosinemia, Type I |
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Hypermethioninemia, Anemia, Elevated circulating alpha-fetoprotein concentration, Failure to thri... |
OMIM:276700 |
Immunodeficiency 87 And Autoimmunity |
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Decreased CD4:CD8 ratio, Hemolytic anemia, Small for gestational age, Hypokalemia, Decreased prop... |
OMIM:619573 |
Gaucher Disease Type 1 |
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Leukopenia, Anemia, Hypersplenism, Pancytopenia, Thrombocytopenia, Splenomegaly |
ORPHA:77259 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Knee flexion contracture, Flexion contracture, Hip contracture, Hyperbilirubinemia, Elbow flexion... |
OMIM:210710 |
Von Willebrand Disease, Type 3 |
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Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
Hermansky-Pudlak Syndrome 2 |
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Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Imp... |
OMIM:608233 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Leukopenia, Anemia, Flexion contracture, Hernia, Hepatosplenomegaly, Thrombocytopenia, Hypoalbumi... |
ORPHA:505248 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Hemolytic anemia, Failure to thrive, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:308230 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... |
OMIM:127550 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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Thrombocytopenia, High nonceruloplasmin-bound serum copper |
ORPHA:457351 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Type ... |
ORPHA:391487 |
Pediatric Systemic Lupus Erythematosus |
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Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Lymphopenia |
ORPHA:93552 |
Diamond-Blackfan Anemia 21 |
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Anemia, Thrombocytopenia, Obesity, Erythroid hypoplasia |
OMIM:620072 |
Lujo Hemorrhagic Fever |
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Leukopenia, Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Thr... |
ORPHA:319213 |
Infection-Related Hemolytic Uremic Syndrome |
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Hemolytic anemia, Hyperkalemia, Diabetes mellitus, Thrombocytopenia, Leukocytosis, Hyponatremia, ... |
ORPHA:544482 |
Noonan Syndrome 4 |
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Thrombocytopenia, Large for gestational age |
OMIM:610733 |
Osteopetrosis With Renal Tubular Acidosis |
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Leukopenia, Anemia, Elliptocytosis, Pancytopenia, Elevated circulating creatine kinase concentrat... |
ORPHA:2785 |
Farber Disease |
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Anemia, Flexion contracture, Hepatosplenomegaly, Failure to thrive, Thrombocytopenia |
ORPHA:333 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Conjugated hyperbilirubinemia |
OMIM:208500 |
Beemer-Ertbruggen Syndrome |
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Thrombocytopenia |
ORPHA:1237 |
Adams-Oliver Syndrome |
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Failure to thrive, Thrombocytopenia, Leukopenia |
ORPHA:974 |
Hellp Syndrome |
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Hemolytic anemia, Microangiopathic hemolytic anemia, Decreased mean corpuscular hemoglobin concen... |
ORPHA:244242 |
21Q22.11Q22.12 Microdeletion Syndrome |
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Camptodactyly, Thrombocytopenia, Failure to thrive in infancy, Anemia |
ORPHA:261323 |
Takenouchi-Kosaki Syndrome |
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Inguinal hernia, Thrombocytopenia, Camptodactyly, Increased mean platelet volume |
OMIM:616737 |
Catastrophic Antiphospholipid Syndrome |
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Coombs-positive hemolytic anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:464343 |
Aicardi-Goutieres Syndrome 7 |
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Anemia, Hemolytic anemia, Weight loss, Pancytopenia, Increased circulating ferritin concentration... |
OMIM:615846 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Abnormal circulating lipid concentration, Hypersplenism, Acute promyelocytic leukemia, Autoimmune... |
ORPHA:77293 |
Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
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Leukopenia, Thrombocytopenia, Aplastic anemia, Pancytopenia |
OMIM:613990 |
Immunodeficiency 40 |
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Thrombocytopenia, T lymphocytopenia |
OMIM:616433 |
Fanconi Anemia, Complementation Group F |
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Failure to thrive, Thrombocytopenia, Leukopenia, Anemia |
OMIM:603467 |
Blue Rubber Bleb Nevus |
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Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
Wiskott-Aldrich Syndrome |
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Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph... |
ORPHA:906 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
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Contracture of the proximal interphalangeal joint of the 2nd finger, Thrombocytopenia, Contractur... |
OMIM:612394 |
Lathosterolosis |
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Failure to thrive, Thrombocytopenia, Abnormal platelet morphology, Anisopoikilocytosis |
ORPHA:46059 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Kasabach-Merritt Syndrome |
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Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop... |
ORPHA:2330 |
Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
Gaucher Disease, Type Ii |
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Failure to thrive, Thrombocytopenia, Splenomegaly, Anemia |
OMIM:230900 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
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Thrombocytopenia, Aplastic anemia, Pancytopenia |
OMIM:224230 |
16Q24.3 Microdeletion Syndrome |
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Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Deeah Syndrome |
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Decreased hemoglobin concentration, Thrombocytopenia, Decreased body weight, Neonatal hypoglycemia |
OMIM:619004 |
Aicardi-Goutieres Syndrome 1 |
|
Thrombocytopenia, Splenomegaly |
OMIM:225750 |
Brucellosis |
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Leukopenia, Anemia, Weight loss, Small for gestational age, Hypersplenism, Failure to thrive, Ele... |
ORPHA:1304 |
Dyskeratosis Congenita |
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Anemia, Abnormality of neutrophils, Diabetes mellitus, Thrombocytopenia, Splenomegaly |
ORPHA:1775 |
Visceral Steatosis, Congenital |
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Hypoglycemia, Neonatal death, Hypocalcemia |
OMIM:228100 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:319218 |
Fanconi Anemia, Complementation Group B |
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Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
Fanconi Anemia, Complementation Group D2 |
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Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Thrombocytopenia, Neutropenia... |
OMIM:227646 |
Tick-Borne Encephalitis |
|
Leukopenia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:297 |
Kaposiform Lymphangiomatosis |
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Anemia, Abnormal spleen morphology, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:464329 |
Kikuchi-Fujimoto Disease |
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Leukopenia, Anemia, Weight loss, Lymphocytosis, Elevated circulating C-reactive protein concentra... |
ORPHA:50918 |
Oculocerebrorenal Syndrome Of Lowe |
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Anemia, Hyperaldosteronism, Hyponatremia, Hypophosphatemia, Hypokalemia, Failure to thrive, Ingui... |
ORPHA:534 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperphosphatemia, Anemia, Decreased body weight, Hyperkalemia, Leukocytosis, Elevated circulatin... |
ORPHA:340 |
Diamond-Blackfan Anemia 1 |
|
Reticulocytopenia, Failure to thrive, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red... |
OMIM:105650 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Anemia, Type I diabetes mellitus, Failure to thrive, Inguinal hernia, Thrombocytopenia, Splenomeg... |
OMIM:619525 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Joint contracture of the hand, Corneal scarring, Atypical scarring of skin, Thr... |
OMIM:263700 |
Q Fever |
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Anemia, Weight loss, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:781 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Anemia, Lymphopenia, Severe B lymphocytopenia, Accessory spleen, Thrombocytopenia, Absence of sub... |
OMIM:620005 |
Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Neutrophilia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis, Eosinophilia, Myelop... |
ORPHA:3260 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Flexion contracture, Limb joint contracture, Truncal obesity, Thrombocytopenia, Splenomegaly |
OMIM:301072 |
Stevens-Johnson Syndrome |
|
Anemia, Thrombocytopenia, Weight loss, Abnormality of neutrophils |
ORPHA:36426 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Thrombocytopenia, Decreased body weight, Decreased hemoglobin concentration |
OMIM:619005 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Chronic lymphatic leukemia, Hepatosplenomegaly, Diabetes mellitus, N... |
ORPHA:51 |
Ivic Syndrome |
|
Thrombocytopenia, Leukocytosis |
ORPHA:2307 |
Acute Liver Failure |
|
Thrombocytopenia, Hypoglycemia, Hyperammonemia |
ORPHA:90062 |
Toxic Epidermal Necrolysis |
|
Anemia, Thrombocytopenia, Neutropenia, Weight loss |
ORPHA:537 |
Mogs-Cdg |
|
Thrombocytopenia, Hepatosplenomegaly |
ORPHA:79330 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Enamel hypoplasia, Neonatal hyperbilirubinemia |
OMIM:300896 |
Gaucher Disease |
|
Anemia, Pancytopenia, Arthrogryposis multiplex congenita, Elevated circulating C-reactive protein... |
ORPHA:355 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Thrombocytopenia, Anemia |
OMIM:612199 |
Dubowitz Syndrome |
|
Thrombocytopenia, Acute lymphoblastic leukemia, Anemia, Abnormality of neutrophils |
ORPHA:235 |
Ivic Syndrome |
|
Thrombocytopenia, Leukocytosis |
OMIM:147750 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration, Thrombocytop... |
ORPHA:466650 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... |
OMIM:301000 |
Cornelia De Lange Syndrome 1 |
|
Elbow flexion contracture, Inguinal hernia, Congenital diaphragmatic hernia, Thrombocytopenia, Hi... |
OMIM:122470 |
Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Cachexia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia |
ORPHA:647 |
Gaucher Disease Type 3 |
|
Anemia, Thrombocytopenia, Splenomegaly, Pancytopenia |
ORPHA:77261 |
Jacobsen Syndrome |
|
Failure to thrive, Thrombocytopenia, Flexion contracture |
OMIM:147791 |
22Q11.2 Deletion Syndrome |
|
Abnormality of thrombocytes, Hypoplasia of the thymus, Hypocalcemia, Failure to thrive, Inguinal ... |
ORPHA:567 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Flexion contracture, Camptodactyly, Inguinal hernia, Thrombocytopenia, Increased mean platelet vo... |
ORPHA:487796 |
Rift Valley Fever |
|
Thrombocytopenia, Anemia |
ORPHA:319251 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Thrombocytopenia, T lymphocytopenia, B lymphocytopenia |
OMIM:251260 |
Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
Fanconi Anemia |
|
Leukopenia, Anemia, Weight loss, Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Um... |
ORPHA:84 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypersplenism, Hepatosplenomegaly, Increased serum bile acid concentration, Hyponatremia, Thrombo... |
ORPHA:731 |
Crimean-Congo Hemorrhagic Fever |
|
Leukopenia, Neutrophilia, Pancytopenia, Elevated circulating creatine kinase concentration, Leuko... |
ORPHA:99827 |
Thrombocytopenia-Absent Radius Syndrome |
|
Anemia, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:274000 |
Sarcoidosis |
|
Leukopenia, Anemia, Hemolytic anemia, Weight loss, Scarring, Increased T cell count, Hypercalcemi... |
ORPHA:797 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Anemia, Cachexia, Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Abnormality of the spleen, ... |
ORPHA:2072 |
Alport Syndrome 1, X-Linked |
|
Thrombocytopenia |
OMIM:301050 |
Digeorge Syndrome |
|
Anemia, Hypoplasia of the thymus, Hypocalcemia, Inguinal hernia, Umbilical hernia, Thrombocytopen... |
OMIM:188400 |
Roberts Syndrome |
|
Progressive flexion contractures, Wrist flexion contracture, Thrombocytopenia, Knee flexion contr... |
ORPHA:3103 |
Jacobsen Syndrome |
|
Inguinal hernia, Thrombocytopenia |
ORPHA:2308 |
Primary Sjögren Syndrome |
|
Leukopenia, Normocytic anemia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, ... |
ORPHA:289390 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Leukopenia, Anemia, Pancytopenia, Thrombocytopenia |
OMIM:305000 |
Osteogenesis Imperfecta |
|
Dentinogenesis imperfecta, Flexion contracture, Small for gestational age, Inguinal hernia, Throm... |
ORPHA:666 |
Leptospirosis |
|
Hyperproteinemia, Thrombocytopenia |
ORPHA:509 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Thrombocytopenia, Weight loss |
ORPHA:79078 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy |
OMIM:163950 |