Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Hypercholanemia, Familial, 2 |
|
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Edinburgh Malformation Syndrome |
|
Failure to thrive, Neonatal hyperbilirubinemia |
OMIM:129850 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
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 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:620010 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the pancreas, Abnormal lym... |
ORPHA:543 |
Kimura Disease |
|
Eosinophilia, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Thrombocytopen... |
ORPHA:464329 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocyto... |
OMIM:612840 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage |
ORPHA:90050 |
Malaria |
|
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Vasculitis, Decreased mean platelet volume, Lymphadenopathy, Hematochez... |
OMIM:617718 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Angina pectoris, Lymphadenopathy |
ORPHA:79292 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:618261 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight, Increased total bilirubin |
ORPHA:890 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Neonatal hyperbilirubinemia |
ORPHA:3363 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Dystonia, Hyperprolinemia, Increased total bilirubin |
OMIM:616299 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Ecchymosis, I... |
ORPHA:99827 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... |
OMIM:603552 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Intention tremor, Osteopenia, Hypocholesterolemia |
OMIM:610539 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hernia, Hyperbilirubinemia, Hiatus hernia |
ORPHA:101009 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Cervical lympha... |
OMIM:614034 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Bone marrow hyp... |
ORPHA:88 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy |
OMIM:618982 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:100025 |
Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... |
OMIM:246700 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Hypocholesterolemia, Failure to thrive |
OMIM:607765 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Osteopenia, Failure to thrive |
OMIM:269920 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia |
OMIM:616278 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center |
OMIM:608184 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lym... |
ORPHA:3226 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Idiopathic Congenital Hypothyroidism |
|
Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia |
ORPHA:95717 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Rickets, Abnormal serum bile acid concentration, Hyperbilirubinemi... |
ORPHA:79303 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Pulmona... |
ORPHA:277 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization |
OMIM:193235 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... |
OMIM:603909 |
Primary Myelofibrosis |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Port... |
ORPHA:824 |
Rhabdoid Tumor |
|
Thrombocytopenia, Lymphadenopathy, Neoplasm of the liver, Hypertension, Internal hemorrhage, Anemia |
ORPHA:69077 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Pleural Mesothelioma |
|
Hepatomegaly, Abnormal cardiovascular system physiology, Lymphadenopathy |
ORPHA:50251 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:209950 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Osteopenia, Failure to thrive, Rickets |
OMIM:211600 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni... |
ORPHA:79477 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Obesity, Compulsive behaviors, Attention deficit hyperactivity disorder, Ab... |
ORPHA:444002 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal bleeding, Reticulocytos... |
ORPHA:99826 |
Lujo Hemorrhagic Fever |
|
Shock, Excessive bleeding after a venipuncture, Myocarditis, Fulminant hepatitis, Leukocytosis, S... |
ORPHA:319213 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Hyperbilirubinemia, Steatorrhea |
OMIM:235555 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Tremor, Increased total iron binding capacity, Unconjugated hyperbilirubinemia... |
OMIM:613280 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
ORPHA:766 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:601859 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypok... |
OMIM:227810 |
Hijazi-Reis Syndrome |
|
Hyperbilirubinemia |
OMIM:301094 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... |
ORPHA:464321 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... |
OMIM:150550 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
Hsd10 Disease |
|
Postnatal growth retardation, Short attention span, Abnormal social behavior, Dysphagia |
ORPHA:391417 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, Retinal hemorrhage, He... |
ORPHA:509 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Hyperbilirubinemia |
ORPHA:713 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
OMIM:616834 |
Leishmaniasis |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thro... |
ORPHA:507 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Intestinal bleeding, Lymphadenopathy |
ORPHA:424019 |
Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukoc... |
ORPHA:520 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Abnormal cortical bone morphology, Hype... |
OMIM:614886 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia, Opisthotonus |
OMIM:619685 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Capillary leak, Intra... |
ORPHA:340 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Obesity, Hyperbilirubinemia |
OMIM:609734 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab... |
ORPHA:54251 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
Nephroblastoma |
|
Neoplasm of the liver, Hypertension, Lymphadenopathy |
ORPHA:654 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Cold Agglutinin Disease |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Familial Thyroid Dyshormonogenesis |
|
Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglo... |
ORPHA:95716 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Failure to thrive, Hyperbilirubinemia |
OMIM:214950 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Short stature, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obes... |
ORPHA:3077 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia, Failure to thrive |
OMIM:619484 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Lymphadenopathy |
ORPHA:26790 |
Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph... |
OMIM:308240 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Tularemia |
|
Tachycardia, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal ly... |
ORPHA:3392 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy |
ORPHA:85414 |
Intrahepatic Cholestasis Of Pregnancy |
|
Tremor, Increased serum bile acid concentration, Small for gestational age, Hyperbilirubinemia |
ORPHA:69665 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Osteoporosis, Truncal obesity, Failure to thrive, Neonatal hyperbiliru... |
ORPHA:73272 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia |
ORPHA:858 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Peroxisome Biogenesis Disorder 3B |
|
Osteoporosis, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H... |
OMIM:266510 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia |
ORPHA:397596 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... |
OMIM:618156 |
Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage |
OMIM:601813 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia |
OMIM:618892 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... |
ORPHA:79456 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:609981 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... |
ORPHA:86839 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Failure to thrive, Elevated circulating alpha-feto... |
OMIM:617049 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Epistaxis, Abnormality of neutrophi... |
ORPHA:33226 |
Aregenerative Anemia |
|
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone m... |
ORPHA:101096 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia, Large for gestational age |
OMIM:619075 |
Eales Disease |
|
Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vitreous hemorrhage,... |
ORPHA:40923 |
Boutonneuse Fever |
|
Thrombocytopenia, Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Leukopenia, Petechiae |
ORPHA:83313 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal eating behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
American Trypanosomiasis |
|
Hepatomegaly, Myocarditis, Splenomegaly, Congestive heart failure, Lymphadenopathy, Cardiomyopath... |
ORPHA:3386 |
Juvenile Xanthogranuloma |
|
Hyphema, Myeloproliferative disorder |
ORPHA:158000 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
Gm2 Gangliosidosis, Ab Variant |
|
Short stature, Postnatal growth retardation, Abnormal fear-induced behavior, Inappropriate behavi... |
ORPHA:309246 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Tremor, Hyperam... |
ORPHA:3008 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... |
ORPHA:276 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Failure to thrive |
OMIM:601847 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Dystonia, Osteomalacia, Tremor, ... |
OMIM:277900 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Glycogen Storage Disease Vii |
|
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin |
OMIM:232800 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat... |
ORPHA:83469 |
Graft Versus Host Disease |
|
Fasciitis, Dupuytren contracture, Lipodystrophy, Hyperbilirubinemia, Failure to thrive |
ORPHA:39812 |
Sickle Cell Anemia |
|
Osteoporosis, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T... |
OMIM:619644 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Decreased body weight |
ORPHA:1667 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro... |
OMIM:616860 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia |
ORPHA:98870 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peritonitis, Vasculitis, Lymphadenopathy, Purpura |
ORPHA:343 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Hiatus hernia |
OMIM:609727 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad... |
OMIM:618935 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytope... |
OMIM:613179 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita, Failure to thrive |
OMIM:613404 |
Exudative Vitreoretinopathy 1 |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:133780 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol... |
ORPHA:14 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Hyperbilirubinemia, Steatorrhea |
OMIM:613812 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... |
ORPHA:381 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia |
ORPHA:79302 |
Scrub Typhus |
|
Abnormal bleeding, Splenomegaly, Myocarditis, Lymphadenopathy, Hypotension |
ORPHA:83317 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Eosinophilia, Splenomegaly, Lymphadenopathy |
OMIM:616651 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Cystic Echinococcosis |
|
Bone cyst, Hyperbilirubinemia, Weight loss |
ORPHA:400 |
Cutaneous Mastocytoma |
|
Telangiectasia macularis eruptiva perstans, Telangiectasia of the skin, Hypotension, Lymphadenopathy |
ORPHA:79455 |
Potocki-Lupski Syndrome |
|
Failure to thrive, Small for gestational age, Hypocholesterolemia |
OMIM:610883 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... |
ORPHA:100080 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hemolytic anemia, Hepatomegal... |
ORPHA:809 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization |
ORPHA:891 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis, ... |
OMIM:259720 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Anemia, Cholestatic live... |
ORPHA:540 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Mitral regurgitation, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... |
OMIM:257200 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Hepatomegaly, Congestive heart failure, Abnormal lymph node morpholo... |
ORPHA:85450 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita, Failure to thrive, Small for g... |
OMIM:208085 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... |
ORPHA:169154 |
Uveal Melanoma |
|
Vitreous hemorrhage |
ORPHA:39044 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Hyperchole... |
ORPHA:90674 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbi... |
OMIM:251880 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, H... |
OMIM:617093 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke |
OMIM:611773 |
Carcinoid Syndrome |
|
Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Heart ... |
ORPHA:100093 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:3162 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... |
ORPHA:1451 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Myocarditis, Splenomegaly,... |
ORPHA:829 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Mild postnatal growth retardation, Abnormal temper tantrums, Abnormal social behav... |
ORPHA:530983 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... |
ORPHA:100082 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Dilated cardiomyopathy, Congestive heart failure, Leuk... |
OMIM:615895 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy... |
ORPHA:2686 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Lymphadenopathy, Hypertens... |
ORPHA:139411 |
Retinoblastoma |
|
Vitreous hemorrhage, Leukemia, Hyphema, Subretinal pigment epithelium hemorrhage |
ORPHA:790 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia, Weight loss |
OMIM:613673 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Right ventricular failure, Mediastinal lymphadenopathy, Lymphadenopa... |
ORPHA:199241 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Legionnaires Disease |
|
Pericarditis, Splenomegaly, Myocarditis, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypoce... |
ORPHA:549 |
Felty Syndrome |
|
Hepatomegaly, Pericarditis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocell... |
ORPHA:47612 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... |
ORPHA:39041 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Tachycardia, Neutrophilia, Acute myeloid leukemia, Eosinophilia,... |
ORPHA:98849 |
Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye |
ORPHA:91495 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr... |
ORPHA:158061 |
Castleman Disease |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocytopeni... |
ORPHA:160 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Increased circulating thyrogl... |
ORPHA:90673 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage |
OMIM:264420 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Confusion, Dementia, Agitation, Semantic dementia, Disinhibition, Memory impairment, Abnormal soc... |
ORPHA:1020 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... |
OMIM:618048 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Abnorm... |
OMIM:214500 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Small for gestational age, Hyperbilirubinemia |
OMIM:224120 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy |
ORPHA:33276 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia, Opisthotonus |
ORPHA:95232 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:288 |
Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:293939 |
Papa Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Hyperbilirubinemia |
OMIM:606812 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Tremor, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypoalbum... |
OMIM:212065 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Micronodular cirrhosis, Punctate vasculitis skin... |
OMIM:192315 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis |
OMIM:142680 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Small for gestational age, Conjugated hyperbilirubinemia, Elevated circulating phytanic acid conc... |
OMIM:614866 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... |
ORPHA:3202 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Coombs-p... |
OMIM:304790 |
Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration |
OMIM:614887 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage |
OMIM:603075 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology, Lymphadenopathy |
ORPHA:1332 |
Chylomicron Retention Disease |
|
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium |
ORPHA:100924 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Hyphema |
OMIM:221900 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Vasculitis, Lymphadenopathy, Increased proportion of CD4-positive T c... |
OMIM:617099 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
Atelis Syndrome 2 |
|
Thrombocytopenia, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic stenosis, Anemia |
OMIM:620185 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Telangiectasia of the skin, Leukocytosis, Acute leukemia, Lymphadenop... |
ORPHA:99812 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis, Lymphadenopathy, Abnorma... |
ORPHA:1572 |
Lathosterolosis |
|
Osteoporosis, Abnormal circulating cholesterol concentration, Elevated circulating lathosterol co... |
OMIM:607330 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia |
OMIM:611881 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Inguinal hernia, Small for gestational age, Rickets, Reduced bone mineral density, Hy... |
OMIM:613658 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia, Purpura |
ORPHA:293173 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Osteopo... |
ORPHA:186 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Small for gestational age, Abnormal circulating fa... |
ORPHA:567983 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... |
ORPHA:100075 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia |
OMIM:300908 |
Mitchell-Riley Syndrome |
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Hyperbilirubinemia |
OMIM:615710 |
Choreoacanthocytosis |
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Bradyphrenia, Short attention span, Self-mutilation of tongue and lips due to involuntary movemen... |
ORPHA:2388 |
Hereditary Spherocytosis |
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Hyperbilirubinemia |
ORPHA:822 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
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Increased T cell count, Absent peripheral lymph nodes in presence of infection, Increased B cell ... |
ORPHA:98813 |
Adenocarcinoma Of The Anal Canal |
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Neoplasm of the liver, Intestinal bleeding, Lymphadenopathy |
ORPHA:424016 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Autoimmune Hepatitis |
|
Increased total bilirubin |
ORPHA:2137 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Cardiac arrest, Eosinophilia, Myocarditis, Hepatitis, Lymphadenopathy, Lymphocytosis |
ORPHA:139402 |
Anaplastic Thyroid Carcinoma |
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Lymphadenopathy |
ORPHA:142 |
Isolated Biliary Atresia |
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Small for gestational age, Conjugated hyperbilirubinemia, Xanthelasma, Severe failure to thrive, ... |
ORPHA:30391 |
Bronchial Neuroendocrine Tumor |
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Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... |
ORPHA:97287 |
Familial Pancreatic Carcinoma |
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Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... |
ORPHA:1333 |
Q Fever |
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Hepatomegaly, Pericarditis, Splenomegaly, Myocarditis, Vasculitis, Thrombocytopenia, Hepatitis, L... |
ORPHA:781 |
Congenital Erythropoietic Porphyria |
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Osteopenia, Scarring, Increased connective tissue, Abnormal circulating porphyrin concentration, ... |
ORPHA:79277 |
Ileal Neuroendocrine Tumor |
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Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Extrahepatic cholestasis, Lymp... |
ORPHA:100078 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... |
OMIM:614700 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Hepatomegaly, Pancytopenia, Portal hypertension, Raynaud phenomenon, Splenomegaly, Leukocytosis, ... |
OMIM:615688 |
Kikuchi-Fujimoto Disease |
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Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Vasculitis, My... |
ORPHA:50918 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Follicular hyperplasia, Raynaud phenomenon, Telangiectasia, Paratracheal lymphadenopathy, Leukope... |
OMIM:615934 |
Hypocomplementemic Urticarial Vasculitis |
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Hepatomegaly, Splenomegaly, Small vessel vasculitis, Lymphadenopathy |
ORPHA:36412 |
Thymic Neuroendocrine Tumor |
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Neoplasm of the thymus, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic nonin... |
ORPHA:97289 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia, Anemia |
OMIM:617591 |
Pearson Marrow-Pancreas Syndrome |
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Failure to thrive, Small for gestational age, Hyperbilirubinemia, Steatorrhea |
OMIM:557000 |
Primary Hepatic Neuroendocrine Carcinoma |
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Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Torticollis, Isometric tremor, Failure to thrive, Head titubation, Overweight, Obesity, Hyperbili... |
OMIM:619475 |
Autoimmune Lymphoproliferative Syndrome |
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Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Cutaneous Neuroendocrine Carcinoma |
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Lymphoid leukemia, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Lethal Congenital Contracture Syndrome 5 |
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Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... |
ORPHA:96180 |
Alg12-Cdg |
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Hyponatremia, Abnormal bone ossification, Abnormal adipose tissue morphology, Hypoalbuminemia, Ca... |
ORPHA:79324 |
Pseudoxanthoma Elasticum, Forme Fruste |
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Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage |
OMIM:177850 |
Mevalonic Aciduria |
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Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thrombocytopen... |
OMIM:610377 |
Phacoanaphylactic Uveitis |
|
Hyphema, Retinal arteritis |
ORPHA:209959 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
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Generalized lymphadenopathy |
OMIM:620232 |
Childhood Absence Epilepsy |
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Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
48,Xxxy Syndrome |
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Obesity, Irritability, Attention deficit hyperactivity disorder, Abnormal social behavior, Abnorm... |
ORPHA:96263 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
Acute Interstitial Pneumonia |
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Hypertension, Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
Mirizzi Syndrome |
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Hyperbilirubinemia |
ORPHA:521219 |
Caroli Disease |
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Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration, Weight loss |
ORPHA:53035 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr... |
OMIM:619418 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Umbilical hernia, Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
Fg Syndrome Type 1 |
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Short stature, Hydrocephalus, Compulsive behaviors, Attention deficit hyperactivity disorder, Abn... |
ORPHA:93932 |
Ogden Syndrome |
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Torticollis, Inguinal hernia, Minimal subcutaneous fat, Hyperbilirubinemia, Umbilical hernia |
OMIM:300855 |
Fructose Intolerance, Hereditary |
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Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Failure to thrive |
OMIM:229600 |
Prader-Willi Syndrome Due To Translocation |
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Short stature, Obesity, Head-banging, Lateral ventricle dilatation, Compulsive behaviors, Attenti... |
ORPHA:177907 |
Agammaglobulinemia, X-Linked |
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Hepatocellular carcinoma, Enteroviral hepatitis, Lymph node hypoplasia, T lymphocytopenia, B lymp... |
OMIM:300755 |
Chédiak-Higashi Syndrome |
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Abnormal bleeding, Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Splenomegaly, Thromboc... |
ORPHA:167 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
Metachromatic Leukodystrophy, Adult Form |
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Short attention span, Progressive psychomotor deterioration, Emotional lability, Depression, Deme... |
ORPHA:309271 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Hypocholesterolemia |
OMIM:618810 |
Hyper-Igd Syndrome |
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Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
Immunodeficiency 55 |
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Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Hepatomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, ... |
OMIM:602782 |
Central Retinal Vein Occlusion |
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Intraretinal hemorrhage, Retinal neovascularization |
ORPHA:411527 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
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Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
Pediatric Systemic Lupus Erythematosus |
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Raynaud phenomenon, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, ... |
ORPHA:93552 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Cranioectodermal Dysplasia 2 |
|
Craniosynostosis, Inguinal hernia, Hyperbilirubinemia |
OMIM:613610 |
Caroli Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:480520 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Failure to thrive, Unconjugated hyperbilirubinemia, Dystonia |
OMIM:618278 |
Degcags Syndrome |
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Osteopenia, Small for gestational age, Craniosynostosis, Hiatus hernia, Hyperbilirubinemia, Failu... |
OMIM:619488 |
Hardikar Syndrome |
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Umbilical hernia, Failure to thrive, Osteoporosis, Hyperbilirubinemia |
OMIM:301068 |
Retinoblastoma |
|
Vitreous hemorrhage, Leukemia |
OMIM:180200 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
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Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Pu... |
OMIM:620233 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil... |
ORPHA:3260 |
Rift Valley Fever |
|
Abnormal bleeding, Hematemesis, Thrombocytopenia, Jaundice, Retinal hemorrhage, Hepatitis, Melena... |
ORPHA:319251 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Emotional lability, Abnormal social behavior, Progressive psychomotor deterioration, Short attent... |
ORPHA:309263 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Shoulder flexion contracture, Delayed epiphyseal ossification, Flexion contractu... |
OMIM:210710 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration, Increased ci... |
OMIM:619991 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
Reynolds Syndrome |
|
Calcinosis, Hyperbilirubinemia, Steatorrhea |
OMIM:613471 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses |
OMIM:208500 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia |
ORPHA:168577 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Splenomegaly, Leukocytosis, Vasculitis, Peritonitis, Lymphadenopathy, Bruising susc... |
ORPHA:32960 |
Familial Mediterranean Fever |
|
Pericarditis, Myocardial infarction, Splenomegaly, Peritonitis, Vasculitis, Lymphadenopathy, Arrh... |
ORPHA:342 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Raynaud phenomenon, Lymphadenopathy, T lymphocytopenia, Neutropenia,... |
OMIM:607944 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... |
ORPHA:83471 |
Farber Disease |
|
Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Lymphadenopathy, Hepatosplenom... |
ORPHA:333 |
H Syndrome |
|
Microcytic anemia, Abnormal cardiovascular system physiology, Lymphadenopathy, Hepatosplenomegaly... |
ORPHA:168569 |
X-Linked Intellectual Disability, Nascimento Type |
|
Neonatal hyperbilirubinemia |
ORPHA:163956 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Thrombocytosis, Polycythemia, Lymphadenopathy |
ORPHA:2905 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concen... |
OMIM:619534 |
Granulomatosis With Polyangiitis |
|
Retinal hemorrhage, Granulomatosis, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage |
OMIM:608710 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Aortic valve stenosis, Hyphema, Pulmonic stenosis |
ORPHA:261552 |
Familial Drusen |
|
Macular hemorrhage |
ORPHA:75376 |
Senior-Boichis Syndrome |
|
Increased total bilirubin |
ORPHA:84081 |
Lymphatic Filariasis |
|
Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi... |
ORPHA:2035 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Raynaud phenomenon, Ly... |
ORPHA:331235 |
Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thr... |
ORPHA:31150 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Hematemesis, Splenomeg... |
OMIM:615846 |
Brucellosis |
|
Hepatomegaly, Pericarditis, Liver abscess, Transient ischemic attack, Hypersplenism, Splenomegaly... |
ORPHA:1304 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Kaufman Oculocerebrofacial Syndrome |
|
Failure to thrive, Hypocholesterolemia |
OMIM:244450 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary... |
ORPHA:117 |
Coccidioidomycosis |
|
Pericarditis, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, Vasculitis, P... |
ORPHA:228123 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, O... |
ORPHA:353281 |
Neurooculorenal Syndrome |
|
Conjugated hyperbilirubinemia, Decreased circulating cortisol level |
OMIM:620305 |
Trichotillomania |
|
Hair-pulling, Compulsive behaviors |
OMIM:613229 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, Neutropenia in... |
ORPHA:37042 |
Chikungunya |
|
Abnormal bleeding, Epistaxis, Raynaud phenomenon, Cervical lymphadenopathy, Lymphadenopathy, Ging... |
ORPHA:324625 |
Mend Syndrome |
|
Failure to thrive, Hyperactivity, Short stature, Aggressive behavior, Hydrocephalus, Abnormal soc... |
ORPHA:401973 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system,... |
ORPHA:538 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:447997 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Small for gestational age, Spina bifida, Postnatal growth retardation, Hydrocephalus, Agenesis of... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Small for gestational age, Spina bifida, Postnatal growth retardation, Hydrocephalus, Agenesis of... |
ORPHA:363958 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Heart murmur, Palpitatio... |
ORPHA:100079 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms |
OMIM:616393 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
Kawasaki Disease |
|
Pericarditis, Myocarditis, Congestive heart failure, Cervical lymphadenopathy, Vasculitis, Leukoc... |
ORPHA:2331 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
Multiple Myeloma |
|
Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:29073 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Splenomegaly, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Increased bl... |
ORPHA:90324 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Eosinophilia, Congestive heart failure, Retinal hemorrhage, Cerebral ... |
ORPHA:464 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Emotional lability, Abnormal social behavior |
ORPHA:309256 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Abnormal lateral ventricle morphology, Short stature, Impulsivity, Aggressive beha... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Abnormal lateral ventricle morphology, Short stature, Impulsivity, Aggressive beha... |
ORPHA:353277 |
Cherubism |
|
Submandibular lymph node enlargement |
OMIM:118400 |
Yellow Fever |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... |
ORPHA:99829 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:620186 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Raynaud phenomenon, Lymphadenopathy, Hypertension, Leukopenia, Thrombocytopenia |
ORPHA:536 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... |
OMIM:619573 |
Dubowitz Syndrome |
|
Inguinal hernia, Hypocholesterolemia |
OMIM:223370 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Pulmonary arterial hypertension, Bruising susceptibi... |
ORPHA:667 |
Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Aggressive behavior, Dysphagia, Depression, Dementia, Disin... |
ORPHA:646 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Hennekam Syndrome |
|
Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Lymphopenia |
ORPHA:2136 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Vitreous hemorrhage, Normochromic anemia, Reduced hematocrit |
ORPHA:91500 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Noncommunicating... |
ORPHA:805 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Raynaud phenomenon, Vasculitis, Biliary cirrhosis, L... |
ORPHA:289390 |
Sarcoidosis |
|
Hemolytic anemia, Abnormal cardiac ventricular function, Hepatomegaly, Eosinophilia, Portal hyper... |
ORPHA:797 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morphology, Lymphadenopathy |
ORPHA:449432 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... |
OMIM:620330 |
Monosomy 22Q13.3 |
|
Hyperactivity, Hair-pulling, Obesity, Bruxism, Agenesis of corpus callosum |
ORPHA:48652 |
Malakoplakia |
|
Abnormal bleeding, Follicular hyperplasia |
ORPHA:556 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Enamel hypoplasia, Neonatal hyperbilirubinemia |
OMIM:300896 |
Incontinentia Pigmenti |
|
Eosinophilia, Leukocytosis, Retinal hemorrhage |
OMIM:308300 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... |
OMIM:619381 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Subretinal pigment epithelium hemorrhage |
ORPHA:357074 |
Smith-Lemli-Opitz Syndrome |
|
Epiphyseal stippling, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, H... |
OMIM:270400 |
Blau Syndrome |
|
Pericarditis, Splenomegaly, Large vessel vasculitis, Lymphadenopathy, Hypertension, Abnormality o... |
ORPHA:90340 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... |
ORPHA:447 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior |
ORPHA:1675 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Lymphopenia, Pancreatic adenocarcinoma, Myocardial infarction, Pancreatoblastoma, Neoplasm of the... |
ORPHA:99889 |
Plague |
|
Abnormal bleeding, Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Lymphadenitis, Enlarged ... |
ORPHA:707 |
Cockayne Syndrome |
|
Splenomegaly, Hypertension, Retinal hemorrhage, Hepatomegaly |
ORPHA:191 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath... |
OMIM:181000 |
Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morpholog... |
ORPHA:449395 |
Trichinellosis |
|
Retinal hemorrhage |
ORPHA:863 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Memory impairment, Abnormal social behavior, Aggressive behavior |
ORPHA:314647 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Hepatomegaly, Splenomegaly, Myocarditis, Congestive heart failure, Ja... |
ORPHA:3385 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Congestive heart failure, Lymphadenopathy, Arrhyth... |
OMIM:256040 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Lymphadenopathy, Pancreatitis |
ORPHA:449563 |
Johanson-Blizzard Syndrome |
|
Small for gestational age, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemi... |
OMIM:243800 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Thrombocytopenia, Lymphadenopathy |
ORPHA:79078 |
Pierson Syndrome |
|
Hypertension, Retinal hemorrhage |
OMIM:609049 |
Williams Syndrome |
|
Failure to thrive in infancy, Short stature, Spina bifida occulta, Obesity, Depression, Attention... |
ORPHA:904 |
Sympathetic Ophthalmia |
|
Retinal hemorrhage |
ORPHA:79098 |
Generalized Arterial Calcification Of Infancy |
|
Transient ischemic attack, Retinal hemorrhage, Hepatic calcification, Hypertension, Weak pulse, L... |
ORPHA:51608 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Cerebral hemorrhage, Retinal hemorrhage, Ischemic stroke, Corneal neovasculariz... |
OMIM:175780 |