Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
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 |
Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:616515 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy |
OMIM:616126 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601382 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... |
OMIM:616648 |
Immunodeficiency 75 With Lymphoproliferation |
|
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy |
OMIM:619126 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... |
ORPHA:320401 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Kimura Disease |
|
Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Mast Cell Sarcoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Lymphadenopathy, Recurrent tonsillitis |
OMIM:618852 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, EEG abnormality, Facial palsy, Absent brainstem auditory responses |
OMIM:617519 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... |
ORPHA:1215 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... |
OMIM:601596 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy |
ORPHA:97290 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy |
ORPHA:319487 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... |
ORPHA:52368 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy |
OMIM:615513 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Lymphadenopathy |
OMIM:619220 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... |
OMIM:610532 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Follicular hyperplasia, Lymphadenopathy |
OMIM:619846 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100024 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the spleen |
ORPHA:543 |
Immunodeficiency 64 With Lymphoproliferation |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cervical lymphade... |
OMIM:618534 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
OMIM:300853 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Generalized lymph... |
OMIM:615559 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy |
OMIM:618987 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy |
OMIM:613101 |
Immunodeficiency, Common Variable, 2 |
|
Follicular hyperplasia, Lymphadenopathy, Splenomegaly |
OMIM:240500 |
Pfapa Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Lymphadenopathy, Splenomegaly |
OMIM:603552 |
Immunodeficiency 27A |
|
Lymphadenopathy, Enlarged mesenteric lymph node, Hepatosplenomegaly, Splenomegaly |
OMIM:209950 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:619260 |
Late-Infantile/Juvenile Krabbe Disease |
|
Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ... |
ORPHA:206443 |
Caspase 8 Deficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:607271 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly |
OMIM:612840 |
Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Cervical lymphadenopathy, Inguinal lymphadenopathy |
OMIM:620514 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy |
OMIM:212050 |
Immunodeficiency 109 With Lymphoproliferation |
|
Generalized lymphadenopathy, Splenomegaly |
OMIM:620282 |
Immunodeficiency 52 |
|
Lymphadenopathy, Splenomegaly |
OMIM:617514 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Splenomegaly |
ORPHA:2584 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... |
ORPHA:3392 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
Pleural Mesothelioma |
|
Lymphadenopathy |
ORPHA:50251 |
Activated Pi3K-Delta Syndrome |
|
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis |
ORPHA:397596 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Splenomegaly |
OMIM:611762 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy |
ORPHA:391 |
Schnitzler Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:37748 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Immunodeficiency 105 |
|
Absence of lymph node germinal center, Hepatosplenomegaly |
OMIM:619924 |
Congenital Toxoplasmosis |
|
Lymphadenopathy |
ORPHA:858 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Lymphadenopathy |
OMIM:618495 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:150550 |
Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Leukodystrophy, Hypomyelinating, 13 |
|
Optic atrophy, Delayed brainstem auditory evoked response conduction time |
OMIM:616881 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:98848 |
Immunodeficiency 54 |
|
Lymphadenopathy, Splenomegaly |
OMIM:609981 |
Immunodeficiency, Common Variable, 1 |
|
Lymphadenopathy, Splenomegaly |
OMIM:607594 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Vestibular areflexia, Absent brainstem auditory responses |
ORPHA:3240 |
Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Infantile Krabbe Disease |
|
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... |
ORPHA:206436 |
Heme Oxygenase 1 Deficiency |
|
Cervical lymphadenopathy, Lymphadenopathy, Asplenia |
OMIM:614034 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Lymphadenopathy, Splenomegaly |
OMIM:619375 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Follicular hyperplasia, Splenomegaly |
OMIM:614470 |
Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, EEG abnormality |
ORPHA:206448 |
Lymphoproliferative Syndrome 2 |
|
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly |
OMIM:615122 |
Immunodeficiency 7 |
|
Splenomegaly, Lymphadenopathy |
OMIM:615387 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Abnormal lymph node morphology |
ORPHA:54251 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:911 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79477 |
Roifman Syndrome |
|
Lymphadenopathy, Splenomegaly |
OMIM:616651 |
Cinca Syndrome |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:607115 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Lymphadenopathy, Splenomegaly, Follicular hyperplasia |
OMIM:603909 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... |
ORPHA:99027 |
Roifman Syndrome |
|
Hepatosplenomegaly, Lymphadenopathy |
ORPHA:353298 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly |
OMIM:618935 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Optic nerve hypoplasia, Decreased nerve conduction velocity, Ab... |
ORPHA:101085 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy |
ORPHA:3226 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:83313 |
Desmoplastic Small Round Cell Tumor |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:83469 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Rhabdoid Tumor |
|
Lymphadenopathy |
ORPHA:69077 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Leishmaniasis |
|
Lymphadenopathy, Splenomegaly |
ORPHA:507 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:619750 |
Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Aganglionic megacolon, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Papa Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
Cockayne Syndrome Type 1 |
|
Optic atrophy, Absent brainstem auditory responses, Hearing impairment, Macrotia, Abnormality of ... |
ORPHA:90321 |
Mogs-Cdg |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... |
ORPHA:79330 |
Griscelli Syndrome |
|
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy |
ORPHA:381 |
Sézary Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:3162 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619183 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden... |
OMIM:602450 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Niemann-Pick Disease, Type A |
|
Lymphadenopathy, Splenomegaly |
OMIM:257200 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Optic ne... |
ORPHA:909 |
Primary Myelofibrosis |
|
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly |
ORPHA:824 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphadenopathy, Splenomegaly |
OMIM:308240 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:619644 |
Aregenerative Anemia |
|
Fatigable weakness of skeletal muscles, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Cyclic Neutropenia |
|
Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis |
ORPHA:2686 |
Trisomy 10P |
|
Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials, Low-set ears, Macrot... |
ORPHA:171929 |
Scrub Typhus |
|
Lymphadenopathy, Splenomegaly |
ORPHA:83317 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy |
OMIM:618048 |
American Trypanosomiasis |
|
Lymphadenopathy, Splenomegaly |
ORPHA:3386 |
Immunodeficiency 97 With Autoinflammation |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Hepatosplenomegaly, Splenomegaly |
OMIM:619802 |
Castleman Disease |
|
Lymphadenopathy, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:160 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
Pancreatoblastoma |
|
Abnormal lymph node morphology |
ORPHA:677 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy |
ORPHA:97289 |
Aggressive Systemic Mastocytosis |
|
Hypersplenism, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:98850 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection |
ORPHA:98813 |
Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
Diffuse Cutaneous Mastocytosis |
|
Lymphadenopathy, Abnormality of the spleen |
ORPHA:79456 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphadenopathy, Splenomegaly |
OMIM:616100 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:1332 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:85450 |
Omenn Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:39041 |
Cockayne Syndrome B |
|
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... |
OMIM:133540 |
Cinca Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:1451 |
Cockayne Syndrome A |
|
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... |
OMIM:216400 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy |
OMIM:301078 |
Immunodeficiency 10 |
|
Lymphadenopathy, Splenomegaly |
OMIM:612783 |
Felty Syndrome |
|
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy |
ORPHA:47612 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy |
OMIM:603554 |
Hypocomplementemic Urticarial Vasculitis |
|
Lymphadenopathy, Splenomegaly |
ORPHA:36412 |
Lymphoproliferative Syndrome 1 |
|
Lymphadenopathy, Splenomegaly |
OMIM:613011 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100026 |
Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Generalized lymphadenopathy, Splenomegaly, Lymphadenopathy |
ORPHA:829 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Lymphadenopathy, Splenomegaly |
ORPHA:169090 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Hepatosplenomegaly, Lymphadenopathy |
ORPHA:169154 |
Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Tafro Syndrome |
|
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:457077 |
Legionnaires Disease |
|
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy |
ORPHA:549 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy |
OMIM:606367 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly |
OMIM:614700 |
Mixed Connective Tissue Disease |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:809 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly |
OMIM:308230 |
Macrophage Activation Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:158061 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Lymphadenopathy, Splenomegaly |
ORPHA:436159 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Lymphadenopathy |
ORPHA:343 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy |
OMIM:610377 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Lymphadenopathy, Splenomegaly |
ORPHA:540 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Lymphadenopathy |
OMIM:304790 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Lymphadenopathy, Splenomegaly |
OMIM:615895 |
Lig4 Syndrome |
|
Lymphadenopathy |
ORPHA:99812 |
Acute Interstitial Pneumonia |
|
Lymphadenopathy |
ORPHA:79126 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly |
OMIM:603553 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly |
OMIM:260920 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials |
ORPHA:401973 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Lymphadenopathy, Splenomegaly |
OMIM:267700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Lymphadenopathy, Splenomegaly |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Lymphadenopathy, Splenomegaly |
OMIM:233710 |
Lymphatic Filariasis |
|
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy |
ORPHA:2035 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Lymphadenopathy, Splenomegaly |
OMIM:233690 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphadenopathy |
ORPHA:93552 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphadenopathy, Splenomegaly |
OMIM:617591 |
Acute Promyelocytic Leukemia |
|
Lymphadenopathy |
ORPHA:520 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphadenopathy |
ORPHA:139402 |
Graft Versus Host Disease |
|
Hepatosplenomegaly, Lymphadenopathy |
ORPHA:39812 |
Farber Disease |
|
Hepatosplenomegaly, Lymphadenopathy |
ORPHA:333 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy |
OMIM:617099 |
Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Lymphadenopathy, Splenomegaly, Generalized lymphadenopathy, Cervi... |
ORPHA:50918 |
Carney Triad |
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Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:139411 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Absence of lymph node germinal center, Hepatosplenomegaly |
ORPHA:79124 |
Waldenström Macroglobulinemia |
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Lymphadenopathy, Splenomegaly |
ORPHA:33226 |
Poems Syndrome |
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Lymphadenopathy, Splenomegaly |
ORPHA:2905 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Lymphadenopathy, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly |
OMIM:602782 |
Chediak-Higashi Syndrome |
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Lymphadenopathy, Splenomegaly |
OMIM:214500 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Lymphadenopathy, Splenomegaly, Polysplenia, Accessory spleen |
OMIM:619418 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Lymphadenopathy, Splenomegaly |
ORPHA:98849 |
Acute Generalized Exanthematous Pustulosis |
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Lymphadenopathy |
ORPHA:293173 |
H Syndrome |
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Hepatosplenomegaly, Lymphadenopathy |
ORPHA:168569 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Cervical lymphadenopathy, Lymphadenopathy |
OMIM:617718 |
Neuroblastoma |
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Lymphadenopathy |
ORPHA:635 |
Q Fever |
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Lymphadenopathy, Hepatosplenomegaly, Splenomegaly |
ORPHA:781 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Lymphadenopathy, Aplasia of the thymus |
ORPHA:83471 |
Granulomatous Disease, Chronic, X-Linked |
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Lymphadenitis, Lymphadenopathy, Splenomegaly |
OMIM:306400 |
Congenital Syphilis |
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Hepatosplenomegaly, Lymphadenopathy |
ORPHA:499009 |
Familial Pancreatic Carcinoma |
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Hepatosplenomegaly, Lymphadenopathy |
ORPHA:1333 |
Selective Igm Deficiency |
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Lymphadenitis, Lymphadenopathy |
ORPHA:331235 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Lymphadenopathy, Splenomegaly |
ORPHA:37042 |
Hennekam Syndrome |
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Lymphadenopathy, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia |
ORPHA:2136 |
Common Variable Immunodeficiency |
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Lymphadenopathy, Splenomegaly |
ORPHA:1572 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Bone marrow hypocellularity, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy |
OMIM:615688 |
Immunodeficiency 55 |
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Lymphadenopathy |
OMIM:617827 |
Autoimmune Lymphoproliferative Syndrome |
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Lymphadenopathy, Chronic noninfectious lymphadenopathy, Bone marrow hypocellularity, Splenomegaly... |
ORPHA:3261 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Lymphadenopathy |
OMIM:607944 |
Lymphangioleiomyomatosis |
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Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy |
ORPHA:538 |
Multiple Myeloma |
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Lymphadenopathy, Splenomegaly |
ORPHA:29073 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
Chédiak-Higashi Syndrome |
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Lymphadenopathy, Hepatosplenomegaly, Splenomegaly |
ORPHA:167 |
Tangier Disease |
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Orange discolored tonsils, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy |
ORPHA:31150 |
Immunodeficiency 31C |
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Lymphadenopathy, Splenomegaly |
OMIM:614162 |
Coccidioidomycosis |
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Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the spleen |
ORPHA:228123 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Hepatosplenomegaly, Lymphadenopathy |
ORPHA:85408 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
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Lymphadenopathy, Splenomegaly |
ORPHA:32960 |
Adenocarcinoma Of The Anal Canal |
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Lymphadenopathy |
ORPHA:424016 |
Familial Mediterranean Fever |
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Lymphadenopathy, Splenomegaly |
ORPHA:342 |
Ileal Neuroendocrine Tumor |
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Lymphadenopathy |
ORPHA:100078 |
Chikungunya |
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Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
Autosomal Recessive Malignant Osteopetrosis |
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Lymphadenopathy, Splenomegaly |
ORPHA:667 |
Brucellosis |
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Lymphadenopathy, Splenomegaly, Hypersplenism |
ORPHA:1304 |
Igg4-Related Kidney Disease |
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Lymphadenitis, Lymphadenopathy |
ORPHA:449395 |
Immunodeficiency 82 With Systemic Inflammation |
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Follicular hyperplasia, Lymphadenopathy, Splenomegaly |
OMIM:619381 |
Behçet Disease |
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Lymphadenopathy, Splenomegaly |
ORPHA:117 |
Igg4-Related Submandibular Gland Disease |
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Lymphadenopathy |
ORPHA:449432 |
Sarcoidosis |
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Abnormal lymph node morphology, Lymphadenopathy |
ORPHA:797 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Fatiguable weakness of proximal limb muscles, Abnormal lymph node morphology, Neoplasm of the thymus |
ORPHA:99889 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Lymphadenopathy, Splenomegaly |
OMIM:256040 |
Primary Sjögren Syndrome |
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Lymphadenopathy |
ORPHA:289390 |
Crimean-Congo Hemorrhagic Fever |
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Lymphadenopathy, Splenomegaly |
ORPHA:99827 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Lymphadenopathy |
ORPHA:79078 |
Marburg Hemorrhagic Fever |
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Lymphadenopathy |
ORPHA:99826 |
Igg4-Related Ophthalmic Disease |
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Lymphadenopathy |
ORPHA:449563 |
Blau Syndrome |
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Lymphadenopathy, Splenomegaly |
ORPHA:90340 |
Systemic Lupus Erythematosus |
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Lymphadenopathy |
ORPHA:536 |
African Trypanosomiasis |
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Lymphadenopathy, Hepatosplenomegaly, Splenomegaly |
ORPHA:3385 |
Leptospirosis |
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Lymphadenopathy |
ORPHA:509 |