| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Malaria |
|
Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia |
ORPHA:673 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
| Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... |
OMIM:619868 |
| Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Anemia of inadequate production, Hyperbilirubinemia, Erythroid hyperplasia, Sple... |
OMIM:237800 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Reticulocytosis, Splenomegaly |
OMIM:179700 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... |
ORPHA:79506 |
| Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... |
ORPHA:766 |
| 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 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Attention deficit hyperactivity disorder, Hypercholesterolemia |
OMIM:301033 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Splenomegaly, Conjugated hyperbiliru... |
OMIM:620010 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... |
OMIM:144250 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblasti... |
OMIM:601775 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia, Anemia |
OMIM:238700 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Acute lymphoblastic leukemia, Neutropenia, Reduced ... |
ORPHA:158057 |
| Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
| Rotor Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:3111 |
| Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... |
OMIM:605814 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate... |
OMIM:301083 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemoglobin con... |
OMIM:616689 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Bone-marrow foam cells, Anemia, Sea-blue histiocytosis, ... |
OMIM:607616 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased circulating ferritin ... |
OMIM:603552 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
OMIM:615863 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:214900 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Attention deficit hyperactivity disorder, Hyperammonemia, Hypercholesterolemia, Increased C-pepti... |
OMIM:620211 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Spherocytosis, Type 4 |
|
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly |
OMIM:612653 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased c... |
OMIM:613101 |
| Spherocytosis, Type 2 |
|
Reticulocytosis, Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Spherocytosis, Splenomegaly |
OMIM:616649 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Conjuga... |
OMIM:616860 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
OMIM:615703 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... |
ORPHA:247598 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis, Anemia, I... |
OMIM:267700 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, A... |
OMIM:613673 |
| Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Reduced platel... |
OMIM:619130 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Thrombocytopenia, Hypocholesterolemia, Splenomegaly |
OMIM:610539 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Iron deficiency anemia, Increased to... |
OMIM:616278 |
| Spherocytosis, Type 1 |
|
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly |
OMIM:182900 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly... |
ORPHA:3202 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Reticulocytosis, Normocytic anemia, Hyperbilirubinemia, Normochromic anemia, Nonspherocytic hemol... |
OMIM:235700 |
| Sickle Cell Anemia |
|
Leukocytosis, Reticulocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Harderoporphyria |
|
Reticulocytosis, Hemolytic anemia, Increased circulating ferritin concentration, Neonatal hyperbi... |
OMIM:618892 |
| Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia, Reticulocytosis, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... |
OMIM:616000 |
| Fish-Eye Disease |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
OMIM:136120 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia, Splenomegaly |
OMIM:306000 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Elevated circulating creatine kinase... |
OMIM:616828 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Anemia, Abnormal erythrocyte morphology, Hyperbilirubinemia, Increased mean corpusc... |
ORPHA:98870 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia, Polyphagia, Decreased circulating cortisol level |
OMIM:609734 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Reduced haptoglobin level, Reticulocytosis, Decreased hem... |
OMIM:266200 |
| Sitosterolemia 1 |
|
Episodic hemolytic anemia, Reduced haptoglobin level, Elevated circulating sitosterol concentrati... |
OMIM:210250 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hyperactivity |
OMIM:615924 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia, Hypoalbuminemia |
OMIM:615008 |
| Glycogen Storage Disease Vii |
|
Reticulocytosis, Hyperuricemia, Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate conc... |
OMIM:232800 |
| Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hype... |
OMIM:207750 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Anemia of inadequate production, Hyp... |
OMIM:224120 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia, Steatorrhea, Splenomegaly |
OMIM:235555 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Anisocytosis, Leukocytosis, Reticulocytosis, Heinz bodies, Un... |
OMIM:300908 |
| Hereditary Elliptocytosis |
|
Reticulocytosis, Elliptocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Hyperbilirubi... |
ORPHA:288 |
| Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia |
OMIM:268150 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Hypoproteinemia, Leukopenia, Hemophagocytosis, Anemia, Increased total biliru... |
OMIM:603553 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly |
ORPHA:75234 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia, Decreased hemoglobin concentration, Reticulocytosis, Hemolytic anemia |
ORPHA:713 |
| Glycine Encephalopathy 1 |
|
Hyperglycinemia, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia |
OMIM:141000 |
| Rh Deficiency Syndrome |
|
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, H... |
ORPHA:71275 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Eleva... |
OMIM:614300 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Splenomegaly, Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
| Biliary Atresia, Extrahepatic |
|
Hyperbilirubinemia, Unconjugated hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
| Overhydrated Hereditary Stomatocytosis |
|
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Increased mean corpuscular volume, Stomato... |
OMIM:185000 |
| Lipoyltransferase 1 Deficiency |
|
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin |
OMIM:616299 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Increased serum bile acid concentration, Conjugated hyperbilirubinemia |
OMIM:243300 |
| Relapsing Fever |
|
Leukocytosis, Leukopenia, Anemia, Increased total bilirubin, Thrombocytopenia, Elevated circulati... |
ORPHA:91547 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Macrothrombocytopenia, Anemia, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, ... |
OMIM:187800 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia, Anemia |
OMIM:617243 |
| Hypercholesterolemia, Familial, 3 |
|
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:603776 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Steatorrhea, Hypocholesterolemia, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:607765 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... |
OMIM:619662 |
| Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hyperbilirubinemia, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypoalbumi... |
ORPHA:64743 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:3319 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Extramedullary hematopoiesis, Steatorrhea, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abn... |
ORPHA:79303 |
| Hyperprolinemia, Type I |
|
Hyperprolinemia, Hyperactivity |
OMIM:239500 |
| Eosinophilia, Familial |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
OMIM:131400 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired ristocetin-induced platelet aggregation, Impaired epinephrine-induced platelet aggregati... |
OMIM:619271 |
| Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
| Neurodevelopmental Disorder With Gait Disturbance, Dysmorphic Facies, And Behavioral Abnormalities, X-Linked |
|
Hyperbilirubinemia |
OMIM:301094 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hyperkalemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Increased total bilirubin |
OMIM:618528 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia, Elevated circulating creatine kinase concentration |
OMIM:614727 |
| Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myeloid leukemia |
OMIM:133180 |
| Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:269920 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Increased serum bile ac... |
ORPHA:101028 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Thrombocytopenia, Pancytopenia, Elevated circulating C... |
OMIM:616050 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin |
ORPHA:90037 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Anemia, Neutropenia, Hypertriglyceridemia, Abnormal natural killer cell count, ... |
ORPHA:158061 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia |
OMIM:124900 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatine kinase concen... |
ORPHA:64753 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Thrombocytopenia, Anemia |
OMIM:616176 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Hyperactivity |
OMIM:609727 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportio... |
OMIM:613011 |
| Citrullinemia Type Ii |
|
Hypoproteinemia, Abnormal eating behavior, Hyperactivity, Restlessness, Acute hyperammonemia, Ele... |
ORPHA:247585 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Ataxia-Oculomotor Apraxia 4 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Hypoalbuminemia |
OMIM:616267 |
| Platelet Signal Processing Defect |
|
Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced platelet aggregation... |
OMIM:173590 |
| Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Normocytic anemia, Anemia, Elevated circulating creatine kinase concen... |
OMIM:611881 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia |
ORPHA:95715 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Extramedullary hematopoiesi... |
ORPHA:822 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... |
ORPHA:75564 |
| Hypermanganesemia With Dystonia 1 |
|
Unconjugated hyperbilirubinemia, Increased total iron binding capacity, Polycythemia, Hypermangan... |
OMIM:613280 |
| Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
| Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... |
OMIM:619802 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Eosinophilia, Thrombocytopenia, Monocytopenia, Neutrophilia, Sp... |
OMIM:226990 |
| Thrombotic Thrombocytopenic Purpura |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Reticulocytosis, Decreased serum creatinine |
ORPHA:54057 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
OMIM:615285 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia, Elevated circulating C-reactive... |
OMIM:308240 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... |
OMIM:619041 |
| Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia, Attention deficit hyperactivity disorder |
OMIM:619075 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Giant platelets, Impair... |
OMIM:155100 |
| Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Thrombocytopenia, Normochr... |
ORPHA:98826 |
| Hyperlipoproteinemia, Type I |
|
Hepatosplenomegaly, Splenomegaly, Hyperlipidemia, Lactescent serum, Hypercholesterolemia, Increas... |
OMIM:238600 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia, Hyperactivity, Attention deficit hyperactivity disorder |
ORPHA:73272 |
| Wolcott-Rallison Syndrome |
|
Hyperammonemia, Neutropenia, Hyperbilirubinemia, Lymphocytosis, Iron deficiency anemia, Hyponatre... |
ORPHA:1667 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
| Leishmaniasis |
|
Abnormal macrophage morphology, Leukopenia, Anemia, Thrombocytopenia, Pancytopenia, Splenomegaly,... |
ORPHA:507 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... |
OMIM:314050 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia |
OMIM:619523 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90036 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Drug-Induced Lupus Erythematosus |
|
Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Thromb... |
ORPHA:231111 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hyperbilirubinemia, Thrombocytopenia, Splen... |
OMIM:251880 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:79302 |
| Cholesteryl Ester Storage Disease |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Leukopenia, Bone-marrow foam cells, ... |
OMIM:278000 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Cog4-Cdg |
|
Hepatosplenomegaly, Thrombocytopenia, Hypercholesterolemia |
ORPHA:263501 |
| Ataxia-Pancytopenia Syndrome |
|
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... |
OMIM:159550 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hyperbilirubinemia, Steatorrhea, Splenomegaly |
OMIM:613812 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
| Pearson Marrow-Pancreas Syndrome |
|
Refractory sideroblastic anemia, Anemia, Steatorrhea, Reticulocytopenia, Hypoplastic anemia, Hype... |
OMIM:557000 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619685 |
| Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hyperbilirubinemia, Decreased serum bile acid concentration |
OMIM:214950 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating alpha-fetoprotein concentration, Hyperammonemia, Conjugated hyperbilirubinemia |
OMIM:617049 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia |
OMIM:208920 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
| Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
| Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529808 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529799 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly, Abnormality of thrombocytes |
ORPHA:721 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hyperlipidemia... |
OMIM:235400 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
| Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis |
OMIM:269600 |
| Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Neutropenia, Thrombocytopenia, Hyperammonemia, Anemia |
ORPHA:289916 |
| Refractory Anemia With Excess Blasts |
|
Leukocytosis, Abnormal mean corpuscular volume, Anemia of inadequate production, Thrombocytopenia... |
ORPHA:86839 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Leukopenia, Anemia |
OMIM:615715 |
| Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Anemia, Hyperproteinemia, Hypertriglyceridemia, Abnormal natural killer cell co... |
ORPHA:158048 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Thrombocytopenia, Hyperhomocystinemia, Hypomethioninemia, Elevated circul... |
OMIM:614857 |
| Abetalipoproteinemia |
|
Reticulocytosis, Anemia, Decreased LDL cholesterol concentration, Steatorrhea, Acanthocytosis, Hy... |
ORPHA:14 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:601847 |
| Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder, Impulsivity |
ORPHA:293939 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Polycythemia Vera |
|
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... |
OMIM:263300 |
| Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Abnormality of iron homeostasis... |
ORPHA:848 |
| Cernunnos-Xlf Deficiency |
|
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:169079 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Preeclampsia |
|
Thrombocytopenia, Elevated circulating creatinine concentration |
ORPHA:275555 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hyperammonemia, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:79312 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hyperammonemia, Leukopenia, Anemia, Macrocytic anemia, Thrombocytopenia |
ORPHA:27 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia, Atte... |
ORPHA:90674 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
| Phenylketonuria |
|
Hyperphenylalaninemia, Hyperactivity, Attention deficit hyperactivity disorder, Maternal hyperphe... |
OMIM:261600 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hyperbilirubinemia, Throm... |
OMIM:259720 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:211600 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:210136 |
| Amed Syndrome, Digenic |
|
Leukopenia, Anemia, Attention deficit hyperactivity disorder, Thrombocytopenia, Acute myeloid leu... |
OMIM:619151 |
| Transcobalamin Deficiency |
|
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:229050 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... |
ORPHA:567548 |
| Aicardi-Goutieres Syndrome 6 |
|
Thrombocytopenia, Splenomegaly, Hemolytic anemia |
OMIM:615010 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... |
OMIM:612924 |
| Bernard-Soulier Syndrome |
|
Macrothrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation, Thrombo... |
OMIM:231200 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Th... |
OMIM:617021 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration |
OMIM:614886 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... |
OMIM:612926 |
| Stuve-Wiedemann Syndrome 2 |
|
Dysphagia, Thrombocytopenia |
OMIM:619751 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hyperactivity, Hypercholesterolemia |
OMIM:182290 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypermethioninemia, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Hypoalbu... |
OMIM:617156 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Hyperuricemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Pancytopenia,... |
OMIM:613845 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Increased CD4:CD8 ratio, Thrombocytopenia, B lymphocytope... |
OMIM:618048 |
| Galactokinase Deficiency |
|
Hepatosplenomegaly, Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia |
ORPHA:79237 |
| Systemic Lupus Erythematosus 17 |
|
Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Leukopenia |
OMIM:301080 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hyperammonemia, Leukopenia, Methylmalonic acidemia, Thrombocytopenia, Hyperglycinemia, Neutropenia |
OMIM:251000 |
| Wt Limb-Blood Syndrome |
|
Leukemia, Thrombocytopenia, Pancytopenia, Hypoplastic anemia |
OMIM:194350 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:615812 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
| Atelis Syndrome 1 |
|
Thrombocytopenia, Attention deficit hyperactivity disorder, Leukopenia, Anemia |
OMIM:620184 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Anemia, Neutropenia, Hypertriglyceridemia, Thrombocytopenia, Increased circulat... |
ORPHA:540 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Methylmalonic Aciduria, Cblb Type |
|
Hyperammonemia, Methylmalonic acidemia, Anemia, Thrombocytopenia, Pancytopenia, Hyperglycinemia, ... |
OMIM:251110 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... |
OMIM:612925 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Thrombocytopenia, Conjugated hyperbilirubinemia |
OMIM:208085 |
| Wilson Disease |
|
Hemolytic anemia, Anemia, Hypouricemia, Increased circulating copper concentration, Splenomegaly,... |
OMIM:277900 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:542323 |
| Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
| Fanconi Anemia, Complementation Group T |
|
Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia |
OMIM:616435 |
| Hepatocellular Carcinoma |
|
Polycythemia, Anemia, Hypokalemia, Hyperbilirubinemia, Thrombocytopenia, Thrombocytosis, Hyponatr... |
ORPHA:88673 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Transient hyperphenylalaninemia, Hyperactivity |
OMIM:612716 |
| D-Glyceric Aciduria |
|
Increased circulating free fatty acid level, Nonketotic hyperglycinemia, Hyperglycinemia |
ORPHA:941 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Reticulocytosis, Microangiopathic hemolytic anemia, Hypokalemia, Unconjugated hyper... |
ORPHA:90038 |
| Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... |
ORPHA:521 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia, Spl... |
ORPHA:567983 |
| Omenn Syndrome |
|
Hypoplasia of the thymus, Hypoproteinemia, Anemia, Severe B lymphocytopenia, Eosinophilia, Thromb... |
OMIM:603554 |
| Stormorken Syndrome |
|
Hypoplastic spleen, Asplenia, Anemia, Elevated circulating creatine kinase concentration, Thrombo... |
OMIM:185070 |
| Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia |
OMIM:616738 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hyperammonemia, Decreased plasma free carnitine, Elevated circulating long chain fatty acid conce... |
OMIM:608836 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Dysphagia, Thrombocytopenia |
OMIM:615750 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Reticulocytosis, Leukopenia, Hemolytic anemia, Abnormal erythrocyte en... |
ORPHA:447 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatosplenomegaly, Hemophagocytosis, Thrombocytopenia, Elevated circulating C-reactive protein c... |
OMIM:619644 |
| Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
| Propionic Acidemia |
|
Hyperammonemia, Anemia, Thrombocytopenia, Pancytopenia, Hyperglycinemia, Neutropenia |
OMIM:606054 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
ORPHA:69665 |
| Intermediate Osteopetrosis |
|
Hepatosplenomegaly, Thrombocytopenia, Hypocalcemia, Anemia |
ORPHA:210110 |
| Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypouricemia, Hypergalactosemia, Hypokalemia, Increased serum bile acid concent... |
OMIM:227810 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:598500 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Hyperalaninemia, Hepatosplenomegaly, Increased LDL cholesterol concentration, H... |
ORPHA:470 |
| Immunodeficiency 46 |
|
Neutropenia, Intermittent thrombocytopenia, Anemia |
OMIM:616740 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased circulating free fatty acid level |
ORPHA:293964 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Macrothrombocytopenia, Anisocytosis, Hypochromic anemia, Anemia of inadequate production, Poikilo... |
ORPHA:67044 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Overlap Myositis |
|
Abnormal circulating lipid concentration, Leukopenia, Elevated circulating creatine kinase concen... |
ORPHA:206572 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Impaired plate... |
OMIM:300835 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
| Snakebite Envenomation |
|
Thrombocytopenia, Pseudobulbar paralysis, Neuromuscular dysphagia, Hyponatremia |
ORPHA:449285 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Slc35A1-Cdg |
|
Giant platelets, Thrombocytopenia, Abnormal platelet granules, Neutropenia |
ORPHA:238459 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Hyperammonemia, Elevated circulating acylcarnitine concentration, Thrombocytopenia, Elevated crea... |
ORPHA:99901 |
| Acquired Purpura Fulminans |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration |
ORPHA:49566 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia, Hypoalbuminemia |
OMIM:617093 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, Splenomegaly |
OMIM:610333 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Hypoalbuminemia, Anemia, Elevated circulating creatinine concentration |
OMIM:608104 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Lymphopenia, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly |
OMIM:617591 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Megaloblastic anemia, Anemia, Cystathioninemia, Thrombocytopenia, Hyperho... |
OMIM:277380 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia |
OMIM:613404 |
| Caroli Syndrome |
|
Leukocytosis, Leukopenia, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Thrombocytopenia, Hy... |
ORPHA:480520 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Congenital thrombocytopenia, Leukocytosis, Anemia |
OMIM:618886 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Conjugated hyperbilirubinemia, Hyperkalemia, Stomatocytosis, Splenomegaly |
OMIM:608885 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Anemia, Neutropenia, Th... |
ORPHA:292 |
| Pyruvate Carboxylase Deficiency |
|
Hyperglutamatemia, Hyperammonemia, Hyperalaninemia, Elevated plasma citrulline, Increased serum p... |
ORPHA:3008 |
| Cystic Echinococcosis |
|
Hyperbilirubinemia, Splenic cyst, Eosinophilia |
ORPHA:400 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Dengue Fever |
|
Hypoproteinemia, Thrombocytopenia, Leukopenia |
ORPHA:99828 |
| Lathosterolosis |
|
Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Hyperbilirubinemia, Abnormal circulating... |
OMIM:607330 |
| Graft Versus Host Disease |
|
Hyperbilirubinemia, Hepatosplenomegaly, Hemophagocytosis |
ORPHA:39812 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia |
OMIM:614887 |
| Senior-Boichis Syndrome |
|
Hepatosplenomegaly, Agitation, Anemia, Attention deficit hyperactivity disorder, Increased total ... |
ORPHA:84081 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Thrombocytopenia, Increased mean platelet volume, Impaired ADP-ind... |
OMIM:617443 |
| Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia |
ORPHA:528 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute monocytic leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Thromboc... |
OMIM:601399 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
| Reynolds Syndrome |
|
Steatorrhea, Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis |
OMIM:613471 |
| Griscelli Syndrome |
|
Abnormal circulating lipid concentration, Leukopenia, Abnormality of neutrophils, Thrombocytopeni... |
ORPHA:381 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Lymphopenia, Hemolytic anemia |
OMIM:616744 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Hypouricemia, Decreased proportion of CD3-positive T cells, Autoimmune thrombocyto... |
ORPHA:760 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia |
ORPHA:348 |
| Babesiosis |
|
Thrombocytopenia, Leukopenia, Hemolytic anemia, Splenomegaly |
ORPHA:108 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:618278 |
| Congenital Toxoplasmosis |
|
Thrombocytopenia, Anemia |
ORPHA:858 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Alcoholism, Leukocytosis, Hypercholesterolemia |
ORPHA:90065 |
| Tangier Disease |
|
Hepatosplenomegaly, Anemia, Hypertriglyceridemia, Thrombocytopenia, Hypocholesterolemia |
ORPHA:31150 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Thrombocytopen... |
OMIM:274150 |
| Methylmalonic Aciduria, Cbla Type |
|
Hyperammonemia, Methylmalonic acidemia, Anemia, Thrombocytopenia, Pancytopenia, Hyperglycinemia, ... |
OMIM:251100 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia |
OMIM:617441 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Histidinemia |
|
Hyperhistidinemia, Hyperactivity |
ORPHA:2157 |
| Bone Marrow Failure Syndrome 4 |
|
Thrombocytopenia, Leukopenia, Anemia |
OMIM:618116 |
| Gaucher Disease, Type Iii |
|
Thrombocytopenia, Pancytopenia, Splenomegaly |
OMIM:231000 |
| Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
ORPHA:412 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Increased circulating renin level, Hyperuricemia, Increased mean ... |
ORPHA:90041 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Avian Influenza |
|
Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, El... |
ORPHA:454836 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Thrombocytopenia, Hypochromic microcytic anemia |
ORPHA:3240 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Hyperammonemia |
ORPHA:79242 |
| Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology,... |
ORPHA:100026 |
| Congenital Erythropoietic Porphyria |
|
Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Leukopenia, Abnormal circulating porphy... |
ORPHA:79277 |
| Vexas Syndrome |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia |
OMIM:301054 |
| Isolated Agammaglobulinemia |
|
Abnormality of neutrophils, Thrombocytopenia, Abnormal lymphocyte morphology, Anemia |
ORPHA:229717 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Elevated circulating creatine kinase concentration, Normochromic anemia |
OMIM:618775 |
| Isovaleric Acidemia |
|
Thrombocytopenia, Pancytopenia, Leukopenia |
OMIM:243500 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hypertriglyceridemia, H... |
ORPHA:79240 |
| Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
| Primary Myelofibrosis |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Pancyto... |
ORPHA:824 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hypertrig... |
ORPHA:370 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Thrombocytopenia, Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly |
OMIM:614576 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia, Thrombocytopenia |
ORPHA:464321 |
| Fumarase Deficiency |
|
Hyperbilirubinemia, Polycythemia |
OMIM:606812 |
| Specific Granule Deficiency 2 |
|
Neutropenia, Thrombocytopenia, Absent neutrophil specific granules, Anemia |
OMIM:617475 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperbilirubinemia, Thrombocytopenia, Hypocalcemia, Anemia |
ORPHA:163979 |
| Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Anemia, Elevated circulating creatine kinase concentration, Splenomegaly, H... |
ORPHA:264580 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
| Mevalonic Aciduria |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Normocytic hypoplastic anemia, Elevated circulating cre... |
OMIM:610377 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:603909 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Attention deficit hyperactivity disorder, Hypercholesterolemia |
ORPHA:819 |
| Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia, Elevated circulating creatinine concentration |
ORPHA:90060 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level |
ORPHA:90673 |
| Imerslund-Gräsbeck Syndrome |
|
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... |
ORPHA:35858 |
| Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
| Autoimmune Hepatitis |
|
Splenomegaly, Increased total bilirubin |
ORPHA:2137 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
| Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation |
OMIM:614171 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemia, Anemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentr... |
OMIM:619743 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
| X-Linked Agammaglobulinemia |
|
Thrombocytopenia, Neutropenia, Hypocalcemia, Anemia |
ORPHA:47 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Hepatosplenomegaly, Stomatocytosis, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia |
ORPHA:168577 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... |
OMIM:169400 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, B lymphocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia |
OMIM:150550 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Thrombocytopenia, Reticulocytosis, Splenomegaly, Anemia |
OMIM:611490 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Splenomegaly, Anemia |
OMIM:615085 |
| Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Anemia, Lymphopenia, Hyperlipidemia, Thrombocytopenia,... |
ORPHA:1830 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Absence of alpha granul... |
OMIM:187900 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
| Caroli Disease |
|
Leukocytosis, Abnormal circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
ORPHA:53035 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
| Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Hypoproteinemia, Hepatosplenomegaly, Hemophagocytosis, Abnormal platelet ... |
ORPHA:167 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Megaloblastic anemia |
OMIM:613839 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
| Shwachman-Diamond Syndrome |
|
Leukopenia, Normocytic anemia, Aplastic anemia, Anemia, Steatorrhea, Leukemia, Chronic neutropeni... |
ORPHA:811 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Thrombocytopen... |
ORPHA:98850 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Dysphagia, Thrombocytopenia, Normochromic anemia, Hypoalbuminemia |
OMIM:254900 |
| Idiopathic Aplastic Anemia |
|
Anemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia |
ORPHA:88 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
| Neuroleptic Malignant Syndrome |
|
Leukocytosis, Hyperuricemia, Agitation, Hyperphosphatemia, Elevated circulating creatine kinase c... |
ORPHA:94093 |
| Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
| Myh9-Related Disease |
|
