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 |
|
Absence of lymph node germinal center, Abnormality of the liver |
OMIM:235550 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy, Mucinous histiocytosis |
ORPHA:158025 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy |
ORPHA:60026 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Immunodeficiency 75 With Lymphoproliferation |
|
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... |
OMIM:619126 |
Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Tremor, Neonatal hyperbilirubinemia |
ORPHA:79234 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
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 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Edinburgh Malformation Syndrome |
|
Failure to thrive, Neonatal hyperbilirubinemia |
OMIM:129850 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia |
OMIM:620010 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... |
OMIM:619868 |
Rotor Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:3111 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Gastrointe... |
ORPHA:543 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia, Eosinophilia |
ORPHA:482 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Epidural hemorrhage, Abnormal spleen morphology, Abnormal bleeding, Bru... |
ORPHA:464329 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Inappropriate behavior, Frontotemporal dementia, Motor neuron atrophy, Inertia, Motor deteriorati... |
ORPHA:412066 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Petechiae, Abnormal bleeding, Hepatosplenomegaly, Epistax... |
OMIM:612840 |
Immunodeficiency 104 |
|
Lymphadenopathy, Splenomegaly, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:66661 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage |
ORPHA:90050 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
Malaria |
|
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Fish-Eye Disease |
|
Lymphadenopathy, Angina pectoris, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Subconjunctival hemorrhage, Vasculitis in the skin, Lymphadenopathy, Cervical lymp... |
OMIM:617718 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Failure to thrive, Hyp... |
OMIM:605814 |
Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Retinal Capillary Malformation |
|
Hyphema, Vitreous hemorrhage |
ORPHA:71213 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L... |
OMIM:619846 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Increased body weight |
ORPHA:890 |
Follicular Lymphoma |
|
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum |
ORPHA:545 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Tachycardia, Abnormal left ventricular function, Subdural hemorrhage... |
ORPHA:99827 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Dystonia, Hyperprolinemia, Hyperglutaminemia |
OMIM:616299 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... |
OMIM:615513 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Autoi... |
OMIM:617514 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100024 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia |
ORPHA:157991 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... |
OMIM:603552 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia, Hernia, Hiatus hernia |
ORPHA:101009 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Ecchymosis, Epistaxis, Bone marrow h... |
ORPHA:88 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Hypertension, Diffuse alveolar hemo... |
OMIM:614034 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Lymphadenopathy, Increased proportion of memory T cells, Hepatosplenomegaly |
OMIM:618982 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy |
OMIM:618987 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicular ... |
OMIM:614470 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia |
OMIM:210500 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:98293 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... |
OMIM:618534 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Alpha-Heavy Chain Disease |
|
Lymphadenopathy, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:100025 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni... |
OMIM:300853 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy, Anemia |
ORPHA:158014 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly |
OMIM:613101 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... |
ORPHA:247598 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration |
OMIM:616278 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy |
ORPHA:97290 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:608184 |
Schnitzler Syndrome |
|
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly, Vasculitis |
ORPHA:37748 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time, Lymphadenopathy, Abnor... |
ORPHA:3226 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy |
ORPHA:319487 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Posterior retinal neovascularization, Vitreous hemorrhage |
OMIM:193235 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent tonsils, Absen... |
ORPHA:277 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... |
OMIM:209950 |
Rhabdoid Tumor |
|
Anemia, Neoplasm of the liver, Hypertension, Internal hemorrhage, Lymphadenopathy, Thrombocytopenia |
ORPHA:69077 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Generalized lymphadenopathy, Hepatosplenomegaly, Autoimmune thrombocytope... |
OMIM:615559 |
Primary Myelofibrosis |
|
Anemia, Petechiae, Extramedullary hematopoiesis, Purpura, Abnormal bleeding, Pancytopenia, Hepato... |
ORPHA:824 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Increased serum bile acid concentration, Conjugated hyperbilirubinemia |
OMIM:243300 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... |
OMIM:602450 |
Pfapa Syndrome |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:42642 |
Pleural Mesothelioma |
|
Abnormal cardiovascular system physiology, Lymphadenopathy, Hepatomegaly |
ORPHA:50251 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Tremor... |
OMIM:613280 |
Griscelli Syndrome Type 2 |
|
Petechiae, Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, ... |
ORPHA:79477 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration |
OMIM:601775 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Marburg Hemorrhagic Fever |
|
Hypotension, Reticulocytosis, Pericarditis, Shock, Capillary leak, Neutrophilia in presence of in... |
ORPHA:99826 |
Lujo Hemorrhagic Fever |
|
Hypotension, Leukopenia, Myocarditis, Fulminant hepatitis, Purpura, Lymphopenia, Ecchymosis, Shoc... |
ORPHA:319213 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin |
OMIM:618528 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Vitreous hemorrhage, Abnormality of the liver, Cerebral hemorrhage, Intracran... |
ORPHA:464321 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circulating ferritin ... |
ORPHA:766 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Coombs-positive... |
OMIM:601859 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly |
OMIM:240500 |
Leptospirosis |
|
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Hepatitis, Jaundice, Pericarditis, Lymphad... |
ORPHA:509 |
Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Abnormal bleeding, Pancytopenia, Lymphadenopa... |
ORPHA:507 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... |
ORPHA:98848 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Conjugated hyperbilirubinemia |
OMIM:269920 |
Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Anemia, Petechiae, Intracranial hemorrhage, Internal hemorrhage, Ecchymosis, Shock, ... |
ORPHA:340 |
Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Petechiae, Purpura, Abnormal bleeding, Pancytopenia, Bruising susceptibility,... |
ORPHA:520 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:618495 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy, Intestinal bleeding, Neoplasm of the liver |
ORPHA:424019 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia, Tremor |
ORPHA:713 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Liver abscess, Neutrophilia,... |
ORPHA:54251 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Umbilical hernia |
ORPHA:95717 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin level, Umbilical hernia, Conjugated hyperbilirubinemia |
ORPHA:95715 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Failure to thrive, Hyperbilirubinemia, Elevated circulating creatine kinase c... |
OMIM:614300 |
Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Opisthotonus |
OMIM:619685 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Splenomegaly, Leukocytosis |
OMIM:611762 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:56425 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology |
ORPHA:2584 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Nephroblastoma |
|
Lymphadenopathy, Hypertension, Neoplasm of the liver |
ORPHA:654 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... |
OMIM:615387 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Hyperbilirubinemia |
OMIM:235555 |
Klatskin Tumor |
|
Extrahepatic cholestasis, Jaundice, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly |
ORPHA:99978 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... |
ORPHA:158057 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Hemophagocytosis,... |
OMIM:308240 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Abnormal serum bile acid concentration, Hyperbilirubinemia, Conjugated hyperbi... |
ORPHA:79303 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy, Abnormality of the peritoneum |
ORPHA:26790 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Failure to thrive, Conjugated hyperbilirubinemia |
OMIM:619484 |
Caspase 8 Deficiency |
|
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Failure to thrive, Hyperbilirubinemia, Decreased serum bile acid concentration |
OMIM:214950 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... |
OMIM:607594 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pericarditis, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:85414 |
Tularemia |
|
Anemia, Abnormal nasopharyngeal adenoid morphology, Lymphadenopathy, Mediastinal lymphadenopathy,... |
ORPHA:3392 |
Aggressive Systemic Mastocytosis |
|
Hypotension, Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Thrombocyt... |
ORPHA:98850 |
Congenital Toxoplasmosis |
|
Anemia, Jaundice, Lymphadenopathy, Hepatomegaly, Thrombocytopenia |
ORPHA:858 |
Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage |
OMIM:601813 |
Intrahepatic Cholestasis Of Pregnancy |
|
Small for gestational age, Hyperbilirubinemia, Tremor, Increased serum bile acid concentration |
ORPHA:69665 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Aplastic anemi... |
OMIM:615122 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Hyperuricemia |
OMIM:232800 |
Harderoporphyria |
|
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration |
OMIM:618892 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Retinal hemorrhage, Abnormal mean corpuscular volume, Abnormal bleeding, ... |
ORPHA:86839 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Failure to thrive, Increased... |
OMIM:267700 |
Diffuse Cutaneous Mastocytosis |
|
Hypotension, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly, Myeloprolife... |
ORPHA:79456 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:609981 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulating alpha-feto... |
OMIM:617049 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia, Obesity |
OMIM:609734 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Waldenström Macroglobulinemia |
|
Retinal hemorrhage, Leukemia, Normocytic anemia, Purpura, Congestive heart failure, Abnormality o... |
ORPHA:33226 |
Eales Disease |
|
Vitreous hemorrhage, Ischemic stroke, Transient ischemic attack, Peripheral retinal neovasculariz... |
ORPHA:40923 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly |
ORPHA:391 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Umbilical hernia |
ORPHA:95716 |
Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Abnormal bleeding, Erythroid hypo... |
ORPHA:101096 |
American Trypanosomiasis |
|
Congestive heart failure, Lymphadenopathy, Hepatomegaly, Arrhythmia, Myocarditis, Splenomegaly, C... |
ORPHA:3386 |
Juvenile Xanthogranuloma |
|
Hyphema, Myeloproliferative disorder |
ORPHA:158000 |
Boutonneuse Fever |
|
Leukopenia, Petechiae, Lymphadenopathy, Cervical lymphadenopathy, Thrombocytopenia, Vasculitis |
ORPHA:83313 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Failure to thrive, Neonatal h... |
ORPHA:3008 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Hyperbilirubinemia |
OMIM:606812 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hyperbilirubinemia, Decreased body weight, Elevated circulating long chain fatty acid concentration |
OMIM:614886 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Abnormal lymph node morphology, Lymphadenitis, Lymphocytosis, Decreased proportion of CD8-positiv... |
ORPHA:911 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph... |
OMIM:613011 |
Cinca Syndrome |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Eosinophilia |
OMIM:607115 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased proportion of CD3-positive T cells, Jaundice, Decrea... |
ORPHA:276 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... |
OMIM:301078 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia, Large for gestational age |
OMIM:619075 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopenia |
OMIM:612783 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Failure to thrive, Neonatal hyperbilirubinemia, Truncal obesity |
ORPHA:73272 |
Immunodeficiency 91 And Hyperinflammation |
|
Pulmonary hemorrhage, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepato... |
OMIM:619644 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
Desmoplastic Small Round Cell Tumor |
|
Anemia, Neoplasm of the pancreas, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lym... |
ORPHA:83469 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Hyperbilirubinemia, Failure to thrive, Hypertyrosinemia, Conjugated hyperbili... |
OMIM:617156 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Purpura, Lymphadenopathy, Hepatomegaly, Gastrointestinal hemorrhage, Peritonitis, Vasculitis |
ORPHA:343 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Failure to thrive, Conjugated hyperbilirubinemia |
OMIM:601847 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
Wolcott-Rallison Syndrome |
|
Decreased body weight, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbuminemia |
ORPHA:1667 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Conjugated hyperbilirubinemia, Elevated hepatic iro... |
OMIM:616860 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum iron |
ORPHA:98870 |
Graft Versus Host Disease |
|
Hyperbilirubinemia, Fasciitis, Lipodystrophy, Failure to thrive, Dupuytren contracture |
ORPHA:39812 |
Exudative Vitreoretinopathy 1 |
|
Retinal neovascularization, Vitreous hemorrhage |
OMIM:133780 |
Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:100026 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Hemolytic anemia, Lymphopenia, Hepatosplenomegaly, Lymphadenopathy, Acute pancreat... |
OMIM:618935 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Hiatus hernia |
OMIM:609727 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Failure to thrive, Arthrogryposis multiplex congenita, Conjugated hyperbilirubinemia |
OMIM:613404 |
Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Cerebral vasculitis,... |
OMIM:613179 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Failure to thrive, Conjugated hyperbilirubinemia |
OMIM:211600 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
Scrub Typhus |
|
Hypotension, Abnormal bleeding, Lymphadenopathy, Myocarditis, Splenomegaly |
ORPHA:83317 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Griscelli Syndrome |
|
Leukopenia, Hepatitis, Jaundice, Abnormality of neutrophils, Lymphadenopathy, Bone marrow hypocel... |
ORPHA:381 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Vitreoretinochoroidopathy |
|
Retinal neovascularization, Vitreous hemorrhage |
OMIM:193220 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Lymphadenopathy, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:616651 |
Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Failure to thrive, Conjugated hyperbilirubinemia |
OMIM:607765 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia |
ORPHA:79302 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... |
OMIM:603554 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:619183 |
Familial Exudative Vitreoretinopathy |
|
Retinal neovascularization, Macular telangiectasia, Vitreous hemorrhage |
ORPHA:891 |
Neuroendocrine Tumor Of The Colon |
|
Hypotension, Facial telangiectasia, Melena, Right ventricular failure, Palpitations, Hepatomegaly... |
ORPHA:100080 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... |
OMIM:619662 |
Cutaneous Mastocytoma |
|
Hypotension, Lymphadenopathy, Telangiectasia of the skin, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
Mixed Connective Tissue Disease |
|
Pulmonary arterial hypertension, Leukopenia, Hemolytic anemia, Purpura, Pericarditis, Lymphadenop... |
ORPHA:809 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Failure to thrive, Arthrogryposis multiplex congenita, Conjugated hype... |
OMIM:208085 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Lymphadenopathy, Mitral regurgitation, Microcytic anemia, Hepatosplenomegaly |
OMIM:619750 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Petechiae, Jaundice, Purpura, Bruising susceptibility, Ecchymosis, Lymphadenopathy, Hemop... |
ORPHA:540 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Lymphadenopathy, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal... |
OMIM:257200 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Anemia, Petechiae, Purpura, Congestive heart failure, Hypertensio... |
ORPHA:85450 |
Uveal Melanoma |
|
Vitreous hemorrhage |
ORPHA:39044 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Knee flexion contracture, Decreased plasma free carnitine, Elbow flexi... |
OMIM:608836 |
Wilson Disease |
|
Limb dystonia, Decreased circulating ceruloplasmin concentration, Increased circulating copper co... |
OMIM:277900 |
Carcinoid Syndrome |
|
Facial telangiectasia, Heart murmur, Hepatic necrosis, Right ventricular failure, Palpitations, C... |
ORPHA:100093 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:64743 |
Adult-Onset Still Disease |
|
Hepatitis, Neutrophilia, Generalized lymphadenopathy, Pericarditis, Bone marrow hypocellularity, ... |
ORPHA:829 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Lacunar stroke, Retinal hemorrhage, Supraventricular arrhythmia, Raynaud phenomenon |
OMIM:611773 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
Cinca Syndrome |
|
Anemia, Abnormal granulocyte morphology, Purpura, Abnormality of neutrophils, Lymphadenopathy, He... |
ORPHA:1451 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Hyperbilirubinemia |
OMIM:613812 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Hyperbilirubinemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein co... |
OMIM:251880 |
Retinoblastoma |
|
Hyphema, Vitreous hemorrhage, Leukemia, Subretinal pigment epithelium hemorrhage |
ORPHA:790 |
Roifman Syndrome |
|
Lymphadenopathy, Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Failure to thrive, Increased circulating ferritin concentration, Hypop... |
OMIM:603553 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Hepatic fibrosis, Anemia, Congestive heart failure, Dilated cardiomyopathy, Lympha... |
OMIM:615895 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
Neuroendocrine Tumor Of The Rectum |
|
Hypotension, Facial telangiectasia, Melena, Right ventricular failure, Palpitations, Hepatomegaly... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hypotension, Facial telangiectasia, Melena, Right ventricular failure, Palpitations, Hepatomegaly... |
ORPHA:100082 |
Sézary Syndrome |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology |
ORPHA:3162 |
Cyclic Neutropenia |
|
Peritonitis, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Cyclic neutropenia, Cervic... |
ORPHA:2686 |
Carney Triad |
|
Anemia, Hypertension, Lymphadenopathy, Mediastinal lymphadenopathy, Arrhythmia, Gastrointestinal ... |
ORPHA:139411 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomeg... |
OMIM:616100 |
Legionnaires Disease |
|
Hypotension, Hepatitis, Jaundice, Pancreatitis, Lymphopenia, Pericarditis, Lymphadenopathy, Bone ... |
ORPHA:549 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptoglobin level, Weight loss |
OMIM:613673 |
Felty Syndrome |
|
Anemia, Pericarditis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopeni... |
ORPHA:47612 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... |
ORPHA:91547 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphati... |
ORPHA:98849 |
Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Hemothorax, Diffuse alveolar hemorrhage, Lymphadenopathy, Rig... |
ORPHA:199241 |
Castleman Disease |
|
Anemia, Restrictive cardiomyopathy, Jaundice, Generalized lymphadenopathy, Decreased mean corpusc... |
ORPHA:160 |
Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye |
ORPHA:91495 |
Omenn Syndrome |
|
Anemia, Lymphadenopathy, Eosinophilia, Hepatomegaly, Leukocytosis, Splenomegaly, Abnormal lymphoc... |
ORPHA:39041 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Hepatom... |
ORPHA:158061 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage |
OMIM:264420 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Decreased proportion of memory B cel... |
OMIM:618048 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Spontaneous, recurrent epistaxis, Jaundice, Bruising susceptibility, Giant ne... |
OMIM:214500 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Anemia, Pulmonary hemorrhage, T lymphocytopenia, Jaundice, Pa... |
ORPHA:79124 |
Pancreatoblastoma |
|
Abnormal lymph node morphology, Jaundice, Pancreatic calcification |
ORPHA:677 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy |
ORPHA:33276 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Sickle Cell Anemia |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:232 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal hemorrhage, Telangiectasia, Punctate vasculitis skin lesions, Raynaud phenomenon, Vasculi... |
OMIM:192315 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Small for gestational age, Hyperbilirubinemia |
OMIM:224120 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Restrictive cardiomyopathy, Mitral stenosis, Intermittent claudication, Angin... |
OMIM:264800 |
Hereditary Elliptocytosis |
|
Hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:288 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529808 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy |
OMIM:142680 |
Lissencephaly Due To Lis1 Mutation |
|
Opisthotonus, Neonatal hyperbilirubinemia |
ORPHA:95232 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased circulating ferritin concentration, Neonatal hyperbilirubine... |
ORPHA:3202 |
Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage |
OMIM:603075 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy, Abnormal liver parenchyma morphology |
ORPHA:1332 |
Cystic Echinococcosis |
|
Hyperbilirubinemia, Weight loss |
ORPHA:400 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:293939 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Hyphema |
OMIM:221900 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Hepatitis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphadenopathy... |
OMIM:304790 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lymphadenopathy, Leukocytosis, Increased proportion of CD4-positive T cells, Vascul... |
OMIM:617099 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Hepatomegaly, C... |
OMIM:308230 |
Abetalipoproteinemia |
|
Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal circulating apolipoprotein ... |
ORPHA:14 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:169090 |
Acute Monoblastic/Monocytic Leukemia |
|
Anemia, Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Cervical lymph... |
ORPHA:514 |
Duodenal Neuroendocrine Tumor |
|
Hypotension, Extrahepatic cholestasis, Increased hematocrit, Cardiogenic shock, Insulinoma, Arrhy... |
ORPHA:100076 |
Lig4 Syndrome |
|
Telangiectasia of the skin, Pancytopenia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Acute leuk... |
ORPHA:99812 |
Common Variable Immunodeficiency |
|
Abnormality of the liver, Hemolytic anemia, Purpura, Lymphopenia, Autoimmune thrombocytopenia, Ly... |
ORPHA:1572 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia |
OMIM:614887 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Elevated circulating phytanic acid concentration, Small for gestational age, Increased circulatin... |
OMIM:614866 |
Neuroendocrine Tumor Of Stomach |
|
Hypotension, Facial telangiectasia, Cardiogenic shock, Iron deficiency anemia, Melena, Right vent... |
ORPHA:100075 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, Decreased propor... |
OMIM:606367 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Failure to thrive, Neonatal hyperbilirubinemia, Hyperch... |
ORPHA:90674 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233710 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Hyperbilirubinemia, Elevated circulating creatine kinase concentration |
OMIM:611881 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Umbilical hernia |
ORPHA:90673 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Extrahepatic cholestasis, Peritoneal abscess, Neoplasm of the liver, J... |
ORPHA:1333 |
Ileal Neuroendocrine Tumor |
|
Hypotension, Extrahepatic cholestasis, Arterial occlusion, Cardiogenic shock, Arrhythmia, Lymphad... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Hypotension, Extrahepatic cholestasis, Arterial occlusion, Cardiogenic shock, Arrhythmia, Lymphad... |
ORPHA:100077 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood |
OMIM:300908 |
Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy, Intestinal bleeding, Neoplasm of the liver |
ORPHA:424016 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233690 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
Bronchial Neuroendocrine Tumor |
|
Hypotension, Facial telangiectasia, Cardiogenic shock, Right ventricular failure, Palpitations, H... |
ORPHA:97287 |
Q Fever |
|
Anemia, Abnormality of the liver, Hepatitis, Purpura, Hepatosplenomegaly, Pericarditis, Lymphaden... |
ORPHA:781 |
Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
Hereditary Spherocytosis |
|
Hyperbilirubinemia |
ORPHA:822 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Anemia, Raynaud phenomenon, Purpura, Hypertension, Pancytopenia, Hepatosplenomegaly, ... |
OMIM:615688 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Lymphocytosis, Cardiac arrest, Lymphadenopathy, Eosinophilia, Myocarditis |
ORPHA:139402 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:617591 |
Hypocomplementemic Urticarial Vasculitis |
|
Lymphadenopathy, Small vessel vasculitis, Splenomegaly, Hepatomegaly |
ORPHA:36412 |
Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Leukopenia, Anemia, Myocarditis, Lymphocytosis, Generalized lymph... |
ORPHA:50918 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Generalized lymphadenopathy, Pancytopenia, Autoimmune thr... |
OMIM:614700 |
Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Neoplasm of the thymus, Mediastinal lymphadenopathy, Pancr... |
ORPHA:97289 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Telangiectasia, Raynaud phenomenon, Lymphopenia, Follicular hyperplasia, Thro... |
OMIM:615934 |
Hepatocellular Carcinoma |
|
Weight loss, Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia |
ORPHA:88673 |
Parenteral Nutrition-Associated Cholestasis |
|
Small for gestational age, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjuga... |
ORPHA:567983 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Intermittent jaundice, Hepatic cysts, Facial telangiectasia, Heart murmur, Neoplasm of the liver,... |
ORPHA:100085 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Bone marrow hypocell... |
ORPHA:3261 |
Autoimmune Hepatitis |
|
Increased total bilirubin |
ORPHA:2137 |
Cutaneous Neuroendocrine Carcinoma |
|
Chronic noninfectious lymphadenopathy, Lymphoid leukemia |
ORPHA:79140 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Decreased body weight, Hyperbilirubinemia, Torticollis, Intention tremor, Failure to thrive, Over... |
OMIM:619475 |
Isolated Biliary Atresia |
|
Small for gestational age, Failure to thrive, Severe failure to thrive, Conjugated hyperbilirubin... |
ORPHA:30391 |
Lethal Congenital Contracture Syndrome 5 |
|
Retinal hemorrhage, Subdural hemorrhage |
OMIM:615368 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Retinal hemorrhage, Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage |
OMIM:177850 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
T lymphocytopenia, Lymphopenia, Absent peripheral lymph nodes in presence of infection, Impaired ... |
OMIM:600802 |
Mevalonic Aciduria |
|
Anemia, Hepatosplenomegaly, Normocytic hypoplastic anemia, Lymphadenopathy, Fluctuating hepatomeg... |
OMIM:610377 |
Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Failure to thrive, Hyperbilirubinemia |
OMIM:557000 |
Immunodeficiency 55 |
|
Lymphadenopathy, Neutropenia, Absent natural killer cells, Lymphopenia |
OMIM:617827 |
Acute Interstitial Pneumonia |
|
Lymphadenopathy, Reduced hematocrit, Hypertension |
ORPHA:79126 |
Fructose Intolerance, Hereditary |
|
Hyperuricemia, Hypophosphatemia, Hyperbilirubinemia, Failure to thrive, Bicarbonaturia |
OMIM:229600 |
Gallbladder Neuroendocrine Tumor |
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Intermittent jaundice, Extrahepatic cholestasis, Biliary tract neoplasm, Biliary tract obstructio... |
ORPHA:100086 |
Pseudoxanthoma Elasticum |
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Sudden cardiac death, Retinal hemorrhage, Restrictive cardiomyopathy, Angina pectoris, Bruising s... |
ORPHA:758 |
Phacoanaphylactic Uveitis |
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Retinal arteritis, Hyphema |
ORPHA:209959 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Cirrhosis, Microvesicular hepatic steatosis, Anemia, Polysplenia, Macronodular cirrhosis, Hepatic... |
OMIM:619418 |
Chédiak-Higashi Syndrome |
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Anemia, Neutropenia, Jaundice, Abnormal bleeding, Pancytopenia, Hepatosplenomegaly, Bruising susc... |
ORPHA:167 |
Ogden Syndrome |
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Minimal subcutaneous fat, Hyperbilirubinemia, Torticollis, Inguinal hernia, Umbilical hernia |
OMIM:300855 |
Caroli Disease |
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Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration, Weight loss |
ORPHA:53035 |
Hyper-Igd Syndrome |
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Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:260920 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Increased circulating thyroglobulin level, Hyperbilirubinemia, Umbilical hernia |
OMIM:218700 |
Central Retinal Vein Occlusion |
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Retinal neovascularization, Intraretinal hemorrhage |
ORPHA:411527 |
Mirizzi Syndrome |
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Hyperbilirubinemia |
ORPHA:521219 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Pancreatic hypoplasia, Pulmonary arterial hypertension, Retroperitoneal fibrosis, Facial telangie... |
OMIM:602782 |
Primary Biliary Cholangitis |
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Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia |
ORPHA:186 |
Agammaglobulinemia, X-Linked |
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Anemia, T lymphocytopenia, B lymphocytopenia, Enteroviral hepatitis, Hepatocellular carcinoma, Ly... |
OMIM:300755 |
Pediatric Systemic Lupus Erythematosus |
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Leukopenia, Microangiopathic hemolytic anemia, Raynaud phenomenon, Lymphopenia, Lymphadenopathy, ... |
ORPHA:93552 |
Lathosterolosis |
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Hyperbilirubinemia, Abnormal circulating cholesterol concentration |
OMIM:607330 |
Rift Valley Fever |
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Retinal hemorrhage, Anemia, Hepatitis, Jaundice, Abnormal bleeding, Gingival bleeding, Hematemesi... |
ORPHA:319251 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
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Hyperkalemia, Conjugated hyperbilirubinemia |
OMIM:608885 |
Caroli Syndrome |
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Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:480520 |
Retinoblastoma |
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Vitreous hemorrhage, Leukemia |
OMIM:180200 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Unconjugated hyperbilirubinemia, Failure to thrive, Dystonia |
OMIM:618278 |
Malt Lymphoma |
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Anemia, Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:52417 |
Idiopathic Hypereosinophilic Syndrome |
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Supraventricular arrhythmia, Generalized lymphadenopathy, Hepatosplenomegaly, Eosinophilia, Myelo... |
ORPHA:3260 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Small for gestational age, Unconjugated hyperbilirubinemia, Failure to thrive, Inguinal hernia, S... |
OMIM:613658 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo... |
ORPHA:90038 |
Liver Disease, Severe Congenital |
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Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Elevated circulating al... |
OMIM:619991 |
Cranioectodermal Dysplasia 2 |
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Inguinal hernia, Hyperbilirubinemia |
OMIM:613610 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Hyperbilirubinemia |
ORPHA:562639 |
Granulomatous Disease, Chronic, X-Linked |
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Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:306400 |
Degcags Syndrome |
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Small for gestational age, Failure to thrive, Hyperbilirubinemia, Hiatus hernia |
OMIM:619488 |
Congenital Erythropoietic Porphyria |
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Reduced haptoglobin level, Abnormal circulating porphyrin concentration, Unconjugated hyperbiliru... |
ORPHA:79277 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
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Bruising susceptibility, Pericarditis, Lymphadenopathy, Leukocytosis, Peritonitis, Splenomegaly, ... |
ORPHA:32960 |
Familial Mediterranean Fever |
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Splenomegaly, Pericarditis, Myocardial infarction, Lymphadenopathy, Arrhythmia, Peritonitis, Panc... |
ORPHA:342 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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T lymphocytopenia, Raynaud phenomenon, Purpura, Lymphopenia, Autoimmune thrombocytopenia, Lymphad... |
OMIM:607944 |
Hardikar Syndrome |
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Failure to thrive, Hyperbilirubinemia, Umbilical hernia |
OMIM:301068 |
Choreoacanthocytosis |
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Aggressive behavior, Head-banging, Self-injurious behavior, Weight loss, Hair-pulling, Lateral ve... |
ORPHA:2388 |
H Syndrome |
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Facial telangiectasia, Hepatosplenomegaly, Lymphadenopathy, Abnormal cardiovascular system physio... |
ORPHA:168569 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Conjugated hyperbilirubinemia |
ORPHA:168577 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Knee flexion contracture, Flexion contracture, Hip contracture, Hyperbilirubinemia, Elbow flexion... |
OMIM:210710 |
Granulomatosis With Polyangiitis |
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Retinal hemorrhage, Granulomatosis, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage |
OMIM:608710 |
Thymic Aplasia |
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T lymphocytopenia, Coombs-positive hemolytic anemia, Atypical or prolonged hepatitis, Decreased p... |
ORPHA:83471 |
Poems Syndrome |
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Pulmonary arterial hypertension, Thrombocytosis, Lymphadenopathy, Polycythemia |
ORPHA:2905 |
Farber Disease |
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Hepatic fibrosis, Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Intrahepatic cho... |
ORPHA:333 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Aortic valve stenosis, Asplenia, Pulmonic stenosis, Hyphema |
ORPHA:261552 |
Reynolds Syndrome |
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Hyperbilirubinemia, Calcinosis |
OMIM:613471 |
Familial Drusen |
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Macular hemorrhage |
ORPHA:75376 |
X-Linked Intellectual Disability, Nascimento Type |
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Neonatal hyperbilirubinemia |
ORPHA:163956 |
Selective Igm Deficiency |
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Lymphadenitis, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of CD8-... |
ORPHA:331235 |
Tangier Disease |
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Anemia, Hepatosplenomegaly, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thr... |
ORPHA:31150 |
Aicardi-Goutieres Syndrome 7 |
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Anemia, Hemolytic anemia, Hepatitis, Generalized lymphadenopathy, Pancytopenia, Hypertension, Hep... |
OMIM:615846 |
Lymphatic Filariasis |
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Lymphadenitis, Lymphangiectasis, Hypereosinophilia, Lymphadenopathy, Abnormality of the lymphatic... |
ORPHA:2035 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Conjugated hyperbilirubinemia |
OMIM:208500 |
Brucellosis |
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Leukopenia, Anemia, Abnormality of the liver, Liver abscess, Hypersplenism, Transient ischemic at... |
ORPHA:1304 |
Immunodeficiency 31C |
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Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... |
OMIM:614162 |
Senior-Boichis Syndrome |
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Increased total bilirubin |
ORPHA:84081 |
Behçet Disease |
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Pulmonary embolism, Splenomegaly, Cerebral ischemia, Pericarditis, Myocardial infarction, Lymphad... |
ORPHA:117 |
Coccidioidomycosis |
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Abnormality of the liver, Cerebral ischemia, Peritonitis, Pericarditis, Lymphadenopathy, Vasospas... |
ORPHA:228123 |
Chikungunya |
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Petechiae, Raynaud phenomenon, Abnormal bleeding, Epistaxis, Lymphadenopathy, Gingival bleeding, ... |
ORPHA:324625 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hyperbilirubinemia, Failure to thrive, Inguinal hernia, Increased circulating ferritin concentrat... |
OMIM:619534 |
Lymphangioleiomyomatosis |
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Gastrointestinal hemorrhage, Lymphadenopathy, Pulmonary lymphangiomyomatosis, Abnormality of the ... |
ORPHA:538 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Hepatitis, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Aut... |
ORPHA:37042 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Retinal hemorrhage, Subdural hemorrhage |
ORPHA:25 |
Cockayne Syndrome Type 3 |
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Retinal hemorrhage, Subdural hemorrhage, Increased blood pressure, Hepatomegaly, Splenomegaly, Ca... |
ORPHA:90324 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
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Aggressive behavior, Hair-pulling, Self-injurious behavior, Absent speech |
OMIM:616393 |
Incontinentia Pigmenti |
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Pulmonary arterial hypertension, Retinal hemorrhage, Cerebral ischemia, Congestive heart failure,... |
ORPHA:464 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Retinal hemorrhage, Bradycardia, Hypertension, Tachycardia |
OMIM:614653 |
Neuroendocrine Neoplasm Of Appendix |
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Hypotension, Heart murmur, Palpitations, Hepatomegaly, Tricuspid stenosis, Chronic noninfectious ... |
ORPHA:100079 |
Multiple Myeloma |
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Lymphadenopathy, Splenomegaly, Anemia |
ORPHA:29073 |
Immunodeficiency 87 And Autoimmunity |
|
Pulmonary arterial hypertension, Decreased CD4:CD8 ratio, Third degree atrioventricular block, He... |
OMIM:619573 |
Yellow Fever |
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Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... |
ORPHA:99829 |
Cherubism |
|
Submandibular lymph node enlargement |
OMIM:118400 |
Kawasaki Disease |
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Hepatitis, Jaundice, Congestive heart failure, Pericarditis, Arrhythmia, Cholecystitis, Leukocyto... |
ORPHA:2331 |
Autosomal Recessive Malignant Osteopetrosis |
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Pulmonary arterial hypertension, Anemia, Bruising susceptibility, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:667 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Hennekam Syndrome |
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Pulmonary lymphangiectasia, Lymphopenia, Lymphadenopathy, Splenomegaly, Lymphangioma |
ORPHA:2136 |
Primary Sjögren Syndrome |
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Leukopenia, Biliary cirrhosis, Chronic active hepatitis, Normocytic anemia, Raynaud phenomenon, P... |
ORPHA:289390 |
Sarcoidosis |
|
Abnormal lymph node morphology, Leukopenia, Anemia, Abnormal cardiac ventricular function, Hemoly... |
ORPHA:797 |
Igg4-Related Submandibular Gland Disease |
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Retroperitoneal fibrosis, Cholangitis, Lymphadenopathy, Eosinophilia, Abnormal pancreas morphology |
ORPHA:449432 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Vitreous hemorrhage, Reduced hematocrit, Normochromic anemia |
ORPHA:91500 |
Malakoplakia |
|
Follicular hyperplasia, Abnormal bleeding |
ORPHA:556 |
Incontinentia Pigmenti |
|
Retinal hemorrhage, Leukocytosis, Eosinophilia |
OMIM:308300 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Enamel hypoplasia, Neonatal hyperbilirubinemia |
OMIM:300896 |
Immunodeficiency 82 With Systemic Inflammation |
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Anemia, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Hepatitis, Vascu... |
OMIM:619381 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Subretinal pigment epithelium hemorrhage |
ORPHA:357074 |
Monosomy 22Q13.3 |
|
Delayed speech and language development, Obesity, Hair-pulling, Agenesis of corpus callosum |
ORPHA:48652 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Delayed speech and language development, Hair-pulling, Irritability |
ORPHA:447997 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Increased blood urea nitrogen, Decreased serum iron, Reduced hap... |
ORPHA:447 |
Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
Blau Syndrome |
|
Pulmonary arterial hypertension, Anemia, Abnormality of the liver, Large vessel vasculitis, Hyper... |
ORPHA:90340 |
Cockayne Syndrome |
|
Hypertension, Retinal hemorrhage, Splenomegaly, Hepatomegaly |
ORPHA:191 |
Sarcoidosis, Susceptibility To, 1 |
|
Pulmonary arterial hypertension, Generalized lymphadenopathy, Pancytopenia, Mediastinal lymphaden... |
OMIM:181000 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Neoplasm of the thymus, Capillary frag... |
ORPHA:99889 |
Plague |
|
Lymphadenitis, Hypotension, Abnormal bleeding, Tachycardia, Hepatomegaly, Arrhythmia, Hematemesis... |
ORPHA:707 |
Trichinellosis |
|
Retinal hemorrhage |
ORPHA:863 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Retroperitoneal fibrosis, Sclerosing cholangitis, Pericarditis, Lymphadenopathy, C... |
ORPHA:449395 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Congestive heart failure, Lymphadenopathy, Hepatomegaly, Arrhythmia, Thrombocytopenia, Splenomega... |
OMIM:256040 |
African Trypanosomiasis |
|
Third degree atrioventricular block, Abnormal EKG, Jaundice, Congestive heart failure, Hepatosple... |
ORPHA:3385 |
Igg4-Related Ophthalmic Disease |
|
Retroperitoneal fibrosis, Cholangitis, Lymphadenopathy, Eosinophilia, Pancreatitis |
ORPHA:449563 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Lymphadenopathy, Thrombocytopenia, Retroperitoneal fibrosis |
ORPHA:79078 |
Pierson Syndrome |
|
Retinal hemorrhage, Hypertension |
OMIM:609049 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Retinal hemorrhage, Ischemic stroke, Hemolytic anemia, Cerebral hemorrhage, Corneal neovasculariz... |
OMIM:175780 |
Generalized Arterial Calcification Of Infancy |
|
Pulmonary arterial hypertension, Retinal hemorrhage, Pancreatic calcification, Transient ischemic... |
ORPHA:51608 |