Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
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 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617080 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Centralopathic Epilepsy |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures |
OMIM:117100 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:22 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... |
OMIM:615871 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Granulomatous Slack Skin |
|
Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Mast Cell Sarcoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy |
ORPHA:79292 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... |
OMIM:613101 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Lymphadenopathy |
OMIM:603552 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Hyperuricemia, Abnormal lymph node morphology |
ORPHA:543 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hypocalcemia, Lymphadenopathy |
ORPHA:100025 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:611762 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased serum iron, Lymphadenopathy |
OMIM:212050 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy |
OMIM:615513 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
Immunodeficiency 27A |
|
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, Hypoalbuminemia |
OMIM:209950 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Generalized lymphadenopathy, Hypertriglyceridemia |
OMIM:620282 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100024 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy |
OMIM:618987 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy... |
OMIM:615559 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
ORPHA:85414 |
Immunodeficiency 52 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617514 |
Heme Oxygenase 1 Deficiency |
|
Elevated circulating C-reactive protein concentration, Asplenia, Increased circulating ferritin c... |
OMIM:614034 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Elevated circulating C-reactive protein concentration, Abnor... |
ORPHA:54251 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Pfapa Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:300853 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... |
OMIM:618534 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... |
OMIM:602450 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly |
OMIM:612840 |
Cinca Syndrome |
|
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly |
OMIM:607115 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology |
ORPHA:677 |
Caspase 8 Deficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:607271 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating amyloid A, Lymphadenopathy, Elevated circulating C-reactive protein concentr... |
OMIM:619750 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Pleural Mesothelioma |
|
Lymphadenopathy |
ORPHA:50251 |
Classic Mycosis Fungoides |
|
Splenomegaly, Lymphadenopathy |
ORPHA:2584 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Hyperlipidemia, Lymphadenopathy |
ORPHA:79477 |
Schnitzler Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:37748 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:397596 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Absence of lymph node germinal center |
OMIM:619924 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Splenomegaly, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Lymphadenop... |
OMIM:308240 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Lymphadenopathy |
OMIM:618495 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Leishmaniasis |
|
Splenomegaly, Hypoalbuminemia, Lymphadenopathy |
ORPHA:507 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:150550 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... |
ORPHA:3392 |
Rhabdoid Tumor |
|
Hypercalcemia, Lymphadenopathy |
ORPHA:69077 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... |
ORPHA:158061 |
Immunodeficiency 54 |
|
Splenomegaly, Lymphadenopathy |
OMIM:609981 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:98848 |
Lymphoproliferative Syndrome 1 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated circulating C-reactive prote... |
OMIM:613011 |
Congenital Toxoplasmosis |
|
Lymphadenopathy |
ORPHA:858 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:607594 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Increased circulating guanosine concentration, Splenomegaly, Lymph node hypoplasia,... |
OMIM:613179 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:619375 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Follicular hyperplasia |
OMIM:614470 |
Immunodeficiency 7 |
|
Splenomegaly, Lymphadenopathy |
OMIM:615387 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Omenn Syndrome |
|
Hypoproteinemia, Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy |
OMIM:603554 |
Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:615122 |
Immunodeficiency 10 |
|
Lymphadenopathy |
OMIM:612783 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:618048 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... |
OMIM:603553 |
Griscelli Syndrome |
|
Splenomegaly, Abnormal circulating lipid concentration, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:381 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
Immunodeficiency 91 And Hyperinflammation |
|
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly |
OMIM:619644 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:911 |
Immunodeficiency 97 With Autoinflammation |
|
Hypertriglyceridemia, Splenomegaly, Mediastinal lymphadenopathy, Increased circulating ferritin c... |
OMIM:619802 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Adult-Onset Still Disease |
|
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Splenomegaly,... |
ORPHA:829 |
Papa Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
Castleman Disease |
|
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy... |
ORPHA:160 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618935 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Roifman Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:616651 |
Desmoplastic Small Round Cell Tumor |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:83469 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619183 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:3226 |
Roifman Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Autoimmune Lymphoproliferative Syndrome |
|
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia |
OMIM:601859 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Hypercalcemia, Chronic noninfectious lymphad... |
ORPHA:97289 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:83313 |
Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy |
OMIM:603909 |
Sézary Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3162 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Absent tonsils |
ORPHA:276 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Cinca Syndrome |
|
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
ORPHA:1451 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... |
ORPHA:540 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Lymphadenopathy,... |
OMIM:615895 |
Niemann-Pick Disease, Type A |
|
Splenomegaly, Lymphadenopathy |
OMIM:257200 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:1332 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:617099 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:79126 |
Cyclic Neutropenia |
|
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:2686 |
Carcinoid Syndrome |
|
Chronic noninfectious lymphadenopathy, Abnormal B-type natriuretic peptide concentration |
ORPHA:100093 |
Mevalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
OMIM:610377 |
American Trypanosomiasis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
Primary Myelofibrosis |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:824 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Splenomegaly, Lymphadenopathy |
OMIM:616100 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
OMIM:301078 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Lymphadenopathy |
ORPHA:79456 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection |
ORPHA:98813 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100026 |
Omenn Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:39041 |
Aggressive Systemic Mastocytosis |
|
Hypersplenism, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:98850 |
Legionnaires Disease |
|
Hyponatremia, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:549 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Lymphadenopathy |
ORPHA:169090 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... |
ORPHA:29073 |
Felty Syndrome |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:47612 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Hypertriglyceridemia, Lymphadenopathy |
OMIM:617591 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:617718 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:169154 |
Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:36412 |
Cutaneous Neuroendocrine Carcinoma |
|
Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Lymphadenopathy |
ORPHA:343 |
Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... |
ORPHA:31150 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly |
OMIM:606367 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center |
OMIM:308230 |
Mixed Connective Tissue Disease |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:809 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Splenomegaly, Lymphadenopathy |
ORPHA:436159 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Lymphadenopathy |
OMIM:304790 |
Graft Versus Host Disease |
|
Lymphadenopathy, Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:39812 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Splenomegaly,... |
ORPHA:50918 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly |
OMIM:618986 |
Lig4 Syndrome |
|
Lymphadenopathy |
ORPHA:99812 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy |
OMIM:614700 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233710 |
Hyper-Igd Syndrome |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Splenomegaly, Abnormal blood ion concentration, Lymphadenopathy, Hypoalbuminemia, Hypocalcemia, H... |
ORPHA:37042 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233690 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Carney Triad |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:139411 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany, Aplasia of the thymus, Lymphadenopathy |
ORPHA:83471 |
Acute Promyelocytic Leukemia |
|
Lymphadenopathy |
ORPHA:520 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphadenopathy |
ORPHA:139402 |
Lymphatic Filariasis |
|
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy |
ORPHA:2035 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia |
OMIM:300755 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... |
ORPHA:167 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Polysplenia |
OMIM:619418 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphadenopathy |
ORPHA:93552 |
H Syndrome |
|
Hypertriglyceridemia, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:168569 |
Farber Disease |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:333 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Absence of lymph node germinal center, Hepatosplenomegaly |
ORPHA:79124 |
Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy, Hepatosplen... |
OMIM:615688 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Lymphadenopathy |
ORPHA:33226 |
Acute Generalized Exanthematous Pustulosis |
|
Lymphadenopathy |
ORPHA:293173 |
Familial Pancreatic Carcinoma |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:1333 |
Hennekam Syndrome |
|
Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Hypocalcemia, Lymphangioma |
ORPHA:2136 |
Chediak-Higashi Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:214500 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
ORPHA:32960 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly |
OMIM:602782 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
Cherubism |
|
Submandibular lymph node enlargement |
OMIM:118400 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Lymphadenopathy |
ORPHA:98849 |
Granulomatous Disease, Chronic, X-Linked |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:306400 |
Common Variable Immunodeficiency |
|
Splenomegaly, Lymphadenopathy |
ORPHA:1572 |
Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
Poems Syndrome |
|
Lymphadenopathy |
ORPHA:2905 |
Q Fever |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:781 |
Selective Igm Deficiency |
|
Lymphadenitis, Lymphadenopathy |
ORPHA:331235 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphadenopathy |
OMIM:607944 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100086 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Splenomegaly, Lymp... |
OMIM:619381 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85408 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Hypophosphatemia, Hypocalcemia, Lymphadenopathy |
ORPHA:667 |
Lymphangioleiomyomatosis |
|
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy |
ORPHA:538 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Bone marrow ... |
ORPHA:3261 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
Immunodeficiency 31C |
|
Splenomegaly, Lymphadenopathy |
OMIM:614162 |
Coccidioidomycosis |
|
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:228123 |
Familial Mediterranean Fever |
|
Splenomegaly, Lymphadenopathy |
ORPHA:342 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Elevated circulating creati... |
ORPHA:449395 |
Ileal Neuroendocrine Tumor |
|
Lymphadenopathy |
ORPHA:100078 |
Brucellosis |
|
Hypersplenism, Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
ORPHA:1304 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... |
OMIM:256040 |
Igg4-Related Ophthalmic Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenopathy |
ORPHA:449563 |
Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
Igg4-Related Submandibular Gland Disease |
|
Lymphadenopathy |
ORPHA:449432 |
Sarcoidosis |
|
Abnormal lymph node morphology, Hypercalcemia, Lymphadenopathy |
ORPHA:797 |
Crimean-Congo Hemorrhagic Fever |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Lymphadenopathy |
ORPHA:99827 |
Behçet Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:117 |
Systemic Lupus Erythematosus |
|
Lymphadenopathy |
ORPHA:536 |
Leptospirosis |
|
Hyperproteinemia, Lymphadenopathy |
ORPHA:509 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Lymphadenopathy |
ORPHA:79078 |
Primary Sjögren Syndrome |
|
Lymphadenopathy |
ORPHA:289390 |
Blau Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:90340 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Neoplasm of the thymus, Abnormal lymph node morphology |
ORPHA:99889 |
African Trypanosomiasis |
|
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:3385 |