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 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Mast Cell Sarcoma |
|
Splenomegaly, Hypoplasia of the ear cartilage, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Cellulitis, Lymphadenopathy |
OMIM:615513 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Middle Ear Neuroendocrine Tumor |
|
Facial palsy, Chronic noninfectious lymphadenopathy, Sensorineural hearing impairment, Tinnitus, ... |
ORPHA:100084 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Low-frequency sensorineural hearing impairment, Lymphadenopathy, Hepatosplenomegaly |
OMIM:613101 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Flexion contracture, Generalized lipodystrophy, Lymphadenopathy, Panniculitis |
OMIM:619183 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
Pseudomyxoma Peritonei |
|
Hernia, Lymphadenopathy |
ORPHA:26790 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy |
OMIM:611762 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100024 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormal lymph node morphology |
ORPHA:543 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:300853 |
Immunodeficiency 52 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617514 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... |
OMIM:618534 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy |
OMIM:618987 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Recurrent tonsillitis, Hearing impairment, Lymphadenopathy |
ORPHA:397596 |
Pfapa Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Lymphadenopathy |
OMIM:603552 |
Cinca Syndrome |
|
Papilledema, Lymphadenopathy, Hepatosplenomegaly, Progressive sensorineural hearing impairment, H... |
OMIM:607115 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, L... |
OMIM:615559 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Inguinal hernia, Flexion contracture of finger, Shoulder flexion contracture, Ab... |
OMIM:193700 |
Congenital Toxoplasmosis |
|
Hearing impairment, Lymphadenopathy |
ORPHA:858 |
Meige Disease |
|
Atypical scarring of skin, Lymph node hypoplasia, Cellulitis, Absence of lymph node germinal center |
ORPHA:90186 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy |
OMIM:212050 |
Immunodeficiency 27A |
|
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly |
OMIM:209950 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... |
OMIM:602450 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... |
ORPHA:52368 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly |
OMIM:612840 |
Caspase 8 Deficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:607271 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Generalized lymphadenopathy |
OMIM:620282 |
Classic Mycosis Fungoides |
|
Splenomegaly, Lymphadenopathy |
ORPHA:2584 |
Pleural Mesothelioma |
|
Lymphadenopathy |
ORPHA:50251 |
Melkersson-Rosenthal Syndrome |
|
Abnormal autonomic nervous system physiology, Facial palsy, Lymphadenopathy |
ORPHA:2483 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
Schnitzler Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:37748 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Absence of lymph node germinal center |
OMIM:619924 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... |
ORPHA:3392 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Immunodeficiency 10 |
|
Amelogenesis imperfecta, Lymphadenopathy |
OMIM:612783 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Lymphadenopathy |
OMIM:618495 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:150550 |
Immunodeficiency 54 |
|
Splenomegaly, Lymphadenopathy |
OMIM:609981 |
Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:98848 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:607594 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Sensorineural hearing impairment, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:3226 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Joint contracture, Optic atrophy |
OMIM:616881 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:619375 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lipodystrophy, Lymphadenopathy |
OMIM:618048 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Posteriorly rotated ears, Lymphadenopathy, Low-set ears, Hepatosplenomegaly |
OMIM:619750 |
Cinca Syndrome |
|
Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy, EEG abnormality, Pseudopapillede... |
ORPHA:1451 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Knee flexion contracture |
OMIM:620232 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Roifman Syndrome |
|
Hip contracture, Splenomegaly, Lymphadenopathy |
OMIM:616651 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Follicular hyperplasia |
OMIM:614470 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Cervical lymphadenopathy, Lymphadenopathy |
OMIM:614034 |
Roifman Syndrome |
|
Hip contracture, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:615122 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Abnormal lymph node morphology |
ORPHA:54251 |
Immunodeficiency 7 |
|
Splenomegaly, Lymphadenopathy |
OMIM:615387 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Cyclic Neutropenia |
|
Cellulitis, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:2686 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:911 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Panniculitis, Lipodystrophy, Lymphadenopathy |
OMIM:617099 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79477 |
Rhabdoid Tumor |
|
Lymphadenopathy |
ORPHA:69077 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lipodystrophy, Splenomegaly, Flexion contracture, Lymphadenopathy, Panniculitis |
OMIM:617591 |
Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618935 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
American Trypanosomiasis |
|
Splenomegaly, Aganglionic megacolon, Lymphadenopathy |
ORPHA:3386 |
Papa Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Leishmaniasis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:507 |
Autoimmune Lymphoproliferative Syndrome |
|
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia |
OMIM:601859 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Abnormal pinna morphology, Abnormal auditor... |
OMIM:216400 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Desmoplastic Small Round Cell Tumor |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:83469 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:83313 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Absent tonsils |
ORPHA:276 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy |
OMIM:603909 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Foot joint contracture, Scarring, Optic atrophy, Enamel hypo... |
ORPHA:90321 |
Sézary Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3162 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Amelogenesis imperfecta, Splenomegaly, Hypocalcification of dental enamel, Lymphadenopathy |
ORPHA:169090 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:308240 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Niemann-Pick Disease, Type A |
|
Splenomegaly, Lymphadenopathy |
OMIM:257200 |
Griscelli Syndrome |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:381 |
Felty Syndrome |
|
Splenomegaly, Cellulitis, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:47612 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Immunodeficiency 91 And Hyperinflammation |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:619644 |
Purine Nucleoside Phosphorylase Deficiency |
|
Splenomegaly, Lymph node hypoplasia |
OMIM:613179 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Abnormal pinna morphology, Abnormal auditory evoked potentia... |
OMIM:133540 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... |
ORPHA:79330 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Aregenerative Anemia |
|
Fatigable weakness of skeletal muscles, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Primary Myelofibrosis |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:824 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:1332 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
Immunodeficiency 97 With Autoinflammation |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619802 |
Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy |
ORPHA:36412 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection |
ORPHA:98813 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Splenomegaly, Lymphadenopathy |
OMIM:616100 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Cellulitis, Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly |
OMIM:606367 |
Legionnaires Disease |
|
Splenomegaly, Cellulitis, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:549 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Lymphadenopathy |
ORPHA:79456 |
Graft Versus Host Disease |
|
Fasciitis, Dupuytren contracture, Lipodystrophy, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:39812 |
Aggressive Systemic Mastocytosis |
|
Hypersplenism, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:98850 |
Lymphoproliferative Syndrome 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:613011 |
Omenn Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:39041 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Splenomegaly, Cervical lymphadenopathy, Sensorineural hearing impairment... |
OMIM:602782 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Cellulitis, Generalized lymphadenopathy, Hepatosplenomegaly |
OMIM:618986 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Splenomegaly, Lymphadenitis, Cellulitis, Lymphadenopathy |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Splenomegaly, Lymphadenitis, Cellulitis, Lymphadenopathy |
OMIM:233710 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy |
ORPHA:97289 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
OMIM:301078 |
Castleman Disease |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy |
ORPHA:160 |
Mevalonic Aciduria |
|
Optic disc pallor, Posteriorly rotated ears, Fluctuating splenomegaly, Lymphadenopathy, Hepatospl... |
OMIM:610377 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy |
OMIM:603554 |
Acute Monoblastic/Monocytic Leukemia |
|
Cervical lymphadenopathy, Progressive hearing impairment |
ORPHA:514 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85450 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100026 |
H Syndrome |
|
Lipodystrophy, Lymphadenopathy, Hepatosplenomegaly, Hernia, Camptodactyly, Hearing impairment |
ORPHA:168569 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Splenomegaly, Lymphadenitis, Cellulitis, Lymphadenopathy |
OMIM:233690 |
Cherubism |
|
Optic neuropathy, Macular scar, Submandibular lymph node enlargement |
OMIM:118400 |
Pancreatoblastoma |
|
Abnormal lymph node morphology |
ORPHA:677 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy |
ORPHA:540 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:169154 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Poems Syndrome |
|
Papilledema, Lipodystrophy, Lymphadenopathy |
ORPHA:2905 |
Macrophage Activation Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:158061 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Lymphadenopathy |
ORPHA:343 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Multifocal epileptiform discharges, Hearing impairment, Lymphadenopathy |
ORPHA:33226 |
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 |
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Splenomegaly, Lymphadenopathy |
ORPHA:436159 |
Agammaglobulinemia, X-Linked |
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Lymph node hypoplasia, Hearing impairment |
OMIM:300755 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy |
OMIM:614700 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Lymphadenopathy |
OMIM:304790 |
Lig4 Syndrome |
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Lymphadenopathy |
ORPHA:99812 |
Chediak-Higashi Syndrome |
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Decreased nerve conduction velocity, Splenomegaly, Lymphadenopathy |
OMIM:214500 |
Cutaneous Neuroendocrine Carcinoma |
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Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Cervical lymphadenopathy, Cellulitis, Lymphadenopathy |
OMIM:617718 |
Acute Interstitial Pneumonia |
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Lymphadenopathy |
ORPHA:79126 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:615895 |
Malt Lymphoma |
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Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:603553 |
Farber Disease |
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Flexion contracture, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:333 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Splenomegaly, Lymphadenopathy |
OMIM:267700 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Accessory spleen, Splenomegaly, Lymphadenopathy, Bilateral sensorineural hearing impairment, Poly... |
OMIM:619418 |
Pulmonary Capillary Hemangiomatosis |
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Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Hennekam Syndrome |
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Camptodactyly of finger, External ear malformation, Splenomegaly, Pulmonary lymphangiectasia, Lym... |
ORPHA:2136 |
Granulomatous Disease, Chronic, X-Linked |
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Splenomegaly, Lymphadenitis, Cellulitis, Lymphadenopathy |
OMIM:306400 |
Acute Promyelocytic Leukemia |
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Lymphadenopathy |
ORPHA:520 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Splenomegaly, Optic atrophy, Lymphadenopathy, Hepatosplenomegaly, Panniculitis, Bone marrow hypoc... |
OMIM:615688 |
Pediatric Systemic Lupus Erythematosus |
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Lymphadenopathy |
ORPHA:93552 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Lymphadenopathy |
ORPHA:139402 |
Lymphangioleiomyomatosis |
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Abnormality of the lymphatic system, Optic atrophy, Lymphadenopathy, Shagreen patch, Pulmonary ly... |
ORPHA:538 |
Lymphatic Filariasis |
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Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy |
ORPHA:2035 |
Carney Triad |
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Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:139411 |
Tangier Disease |
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Orange discolored tonsils, Facial diplegia, Chronic noninfectious lymphadenopathy, Hepatosplenome... |
ORPHA:31150 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Flexion contracture, Enthesitis, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85408 |
Kikuchi-Fujimoto Disease |
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Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Abnormal lymph node morpholo... |
ORPHA:50918 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Absence of lymph node germinal center, Hepatosplenomegaly |
ORPHA:79124 |
Mend Syndrome |
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Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Selective Igm Deficiency |
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Lymphadenitis, Fasciitis, Cellulitis, Lymphadenopathy |
ORPHA:331235 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Lipodystrophy, Camptodactyly of finger, Splenomegaly, Adipose tissue loss, Flexion contracture, E... |
OMIM:256040 |
Coccidioidomycosis |
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Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy, Atypical scarring of ski... |
ORPHA:228123 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
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Splenomegaly, Fasciitis, Cellulitis, Lymphadenopathy |
ORPHA:32960 |
Acute Generalized Exanthematous Pustulosis |
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Lymphadenopathy |
ORPHA:293173 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Splenomegaly, Lymphadenopathy |
ORPHA:98849 |
Immunodeficiency 55 |
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Lymphadenopathy |
OMIM:617827 |
Familial Pancreatic Carcinoma |
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Lymphadenopathy, Hepatosplenomegaly |
ORPHA:1333 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Aplasia of the thymus, Lymphadenopathy |
ORPHA:83471 |
Chédiak-Higashi Syndrome |
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Decreased nerve conduction velocity, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:167 |
Autoimmune Lymphoproliferative Syndrome |
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Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Panniculitis... |
ORPHA:3261 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Low-set ears, Lymphadenopathy |
OMIM:607944 |
Q Fever |
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Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:781 |
Common Variable Immunodeficiency |
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Splenomegaly, Lymphadenopathy |
ORPHA:1572 |
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 |
Multiple Myeloma |
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Splenomegaly, Lymphadenopathy |
ORPHA:29073 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Splenomegaly, Lymphadenopathy |
ORPHA:37042 |
Adenocarcinoma Of The Anal Canal |
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Lymphadenopathy |
ORPHA:424016 |
Autosomal Recessive Malignant Osteopetrosis |
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Splenomegaly, Optic nerve compression, Hearing impairment, Lymphadenopathy |
ORPHA:667 |
Immunodeficiency 31C |
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Splenomegaly, Lymphadenopathy |
OMIM:614162 |
Chikungunya |
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Cervical lymphadenopathy, Enthesitis, Lymphadenopathy |
ORPHA:324625 |
Familial Mediterranean Fever |
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Splenomegaly, Lymphadenopathy |
ORPHA:342 |
Ileal Neuroendocrine Tumor |
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Lymphadenopathy |
ORPHA:100078 |
Blau Syndrome |
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Facial palsy, Camptodactyly of finger, Splenomegaly, Lymphadenopathy, Abnormal cranial nerve morp... |
ORPHA:90340 |
Sarcoidosis |
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Abnormal lymph node morphology, Facial palsy, Scarring, Lymphadenopathy |
ORPHA:797 |
Brucellosis |
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Hypersplenism, Splenomegaly, Abnormality of the peripheral nervous system, Lymphadenopathy |
ORPHA:1304 |
Igg4-Related Ophthalmic Disease |
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Abnormality of infra-orbital nerve, Abnormal fifth cranial nerve morphology, Lymphadenopathy |
ORPHA:449563 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Neoplasm of the thymus, Dorsocervical fat pad, Fatiguable weakness of proximal limb muscles, Abno... |
ORPHA:99889 |
Immunodeficiency 82 With Systemic Inflammation |
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Splenomegaly, Follicular hyperplasia, Cholesteatoma, Lymphadenopathy |
OMIM:619381 |
Igg4-Related Submandibular Gland Disease |
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Lymphadenopathy |
ORPHA:449432 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Optic nerve compression, Lymphadenopathy |
ORPHA:79078 |
Behçet Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:117 |
Primary Sjögren Syndrome |
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Abnormality of the peripheral nervous system, Lymphadenopathy |
ORPHA:289390 |
Systemic Lupus Erythematosus |
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Lymphadenopathy |
ORPHA:536 |
Igg4-Related Kidney Disease |
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Lymphadenitis, Lymphadenopathy |
ORPHA:449395 |
Crimean-Congo Hemorrhagic Fever |
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Splenomegaly, Lymphadenopathy |
ORPHA:99827 |
Marburg Hemorrhagic Fever |
|
Lymphadenopathy |
ORPHA:99826 |
African Trypanosomiasis |
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Splenomegaly, Hepatosplenomegaly, Papilledema, Lymphadenopathy |
ORPHA:3385 |
Leptospirosis |
|
Papilledema, Lymphadenopathy |
ORPHA:509 |