Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy |
OMIM:616126 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Hyper... |
OMIM:619902 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Enlarged kidney |
OMIM:615285 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly... |
OMIM:613496 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Nephronophthisis 16 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... |
OMIM:615382 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Abnormal lymph node morphology, Papillary renal cell carcinoma, Chronic noninfectious lym... |
ORPHA:97290 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:619126 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... |
ORPHA:90301 |
Kimura Disease |
|
Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Nephronophthisis 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
Renal Dysplasia |
|
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
Granulomatous Slack Skin |
|
Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology |
ORPHA:33111 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... |
OMIM:194080 |
Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... |
ORPHA:85445 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... |
OMIM:263200 |
Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... |
OMIM:602088 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormal lymph node morphology, Goiter, Papillary renal cell carcinoma, Chronic noninfectious lym... |
ORPHA:319487 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Lymphadenopathy |
OMIM:618852 |
Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:100024 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy |
ORPHA:66661 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Hydrocele testis... |
ORPHA:276280 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Enlarged kidney, Nephroblastoma |
OMIM:618272 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal dysplasia, Polysplenia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, ... |
OMIM:208540 |
Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym... |
ORPHA:464329 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Burkitt Lymphoma |
|
Abnormality of the ovary, Abnormality of the spleen, Abnormal lymph node morphology |
ORPHA:543 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hypogona... |
ORPHA:85450 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Asplenia, Enlarged kidney, Cystic renal dysplasia |
OMIM:615415 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormality of the kidney, A... |
ORPHA:54251 |
H Syndrome |
|
Hypogonadism, Decreased testicular size, Azoospermia, Hepatosplenomegaly, Lymphadenopathy, Abnorm... |
ORPHA:168569 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... |
OMIM:618270 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy |
ORPHA:545 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent urinary tract infections, Hepatosplenomegaly, Stage 5 chronic kidney disease, Splenomeg... |
OMIM:615559 |
Igg4-Related Kidney Disease |
|
Chronic kidney disease, Lymphadenitis, Urethritis, Hematuria, Prostatitis, Abnormality of the ant... |
ORPHA:449395 |
Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Splenomegaly, Protein... |
OMIM:617303 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... |
OMIM:232220 |
Acrocephalopolydactylous Dysplasia |
|
Polysplenia, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cystic renal dysplasia |
OMIM:200995 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Lymphatic Filariasis |
|
Urethral obstruction, Lymphadenitis, Abnormal scrotum morphology, Orchitis, Hematuria, Proteinuri... |
ORPHA:2035 |
Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Overgrowth of external genitalia, Renal cortical cysts,... |
OMIM:130650 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Genital ulcers, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphaden... |
OMIM:602450 |
Desmoplastic Small Round Cell Tumor |
|
Lymphadenopathy, Testicular neoplasm, Hepatomegaly, Ovarian neoplasm, Mediastinal lymphadenopathy... |
ORPHA:83469 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy |
OMIM:615513 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Enlarged kidney |
OMIM:618188 |
Diaphanospondylodysostosis |
|
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia |
OMIM:608022 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Lymphadenopathy |
OMIM:619220 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney |
ORPHA:79128 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Renal insufficiency, Hydronephrosis, Cardiomegaly, Long-chain dicarboxylic acidu... |
OMIM:608836 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Microphallus, Hyperechogenic kidneys, Cryptorchidism, Ambiguous genitalia, Hypospa... |
OMIM:612651 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:603552 |
Meacham Syndrome |
|
Accessory spleen, Horseshoe kidney, Septate vagina, Male pseudohermaphroditism, Blind vagina, Bic... |
OMIM:608978 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Urethral atresia, Enlarged kidney |
OMIM:314390 |
Cold Agglutinin Disease |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color |
ORPHA:56425 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy |
OMIM:300853 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulati... |
ORPHA:97289 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
Immunodeficiency 54 |
|
Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:609981 |
Heme Oxygenase 1 Deficiency |
|
Nephritis, Cervical lymphadenopathy, Hematuria, Proteinuria, Lymphadenopathy, Hepatomegaly, Asplenia |
OMIM:614034 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Ambiguous genitalia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:613091 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Glomerulonephritis, Lymphadenopathy |
OMIM:619375 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:50251 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Immunodeficiency 64 With Lymphoproliferation |
|
Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Mediastinal lymphade... |
OMIM:618534 |
Nephroblastoma |
|
Hematuria, Lymphadenopathy, Nephroblastoma |
ORPHA:654 |
Tyrosinemia, Type I |
|
Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Splenomegaly, Rena... |
OMIM:276700 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy |
OMIM:613101 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Abnormal lymph node morphology |
OMIM:612840 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Penoscrotal hypospadias, ... |
OMIM:618280 |
Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... |
OMIM:232200 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Recurrent urinary tract infections |
OMIM:618495 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Follicular hyperplasia, Lymphadenopathy |
OMIM:619846 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:2584 |
Immunodeficiency 27A |
|
Enlarged mesenteric lymph node, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy |
OMIM:209950 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Lymphadenopathy |
ORPHA:858 |
Caspase 8 Deficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:607271 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy |
ORPHA:391 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:37748 |
Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re... |
ORPHA:731 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Lymphadenopathy |
ORPHA:397596 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Bone marrow hypocellularity, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glyc... |
ORPHA:505248 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy |
OMIM:618987 |
Immunodeficiency 109 With Lymphoproliferation |
|
Generalized lymphadenopathy, Splenomegaly |
OMIM:620282 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:98848 |
Beckwith-Wiedemann Syndrome |
|
Nephropathy, Visceromegaly, Abnormal pancreas morphology, Vesicoureteral reflux, Cryptorchidism, ... |
ORPHA:116 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Lymphadenopathy |
OMIM:611762 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Immunodeficiency 52 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617514 |
Rhabdoid Tumor |
|
Hematuria, Renal neoplasm, Lymphadenopathy |
ORPHA:69077 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatosplenomegaly, Renal insufficiency, Lymphadenopathy, Membranoproliferative glomerulonephriti... |
OMIM:619644 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Lymphadenopathy |
ORPHA:2221 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy |
OMIM:212050 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Abnormal renal artery morphology, Hydronephrosis, Hypoplastic nipples,... |
ORPHA:79328 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Absence of lymph node germinal center |
OMIM:619924 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:607594 |
Immunodeficiency 7 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:615387 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Splenomegaly, Follicular hyperplasia |
OMIM:614470 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephritis, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Lymphaden... |
OMIM:603909 |
Thyroid Lymphoma |
|
Lymphadenopathy, Goiter |
ORPHA:97285 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria, Polycystic ovarie... |
ORPHA:79259 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Cervical lymphadenopathy, Inguinal lymphadenopathy |
OMIM:620514 |
Mucolipidosis Ii Alpha/Beta |
|
Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enlarged kidney |
OMIM:252500 |
Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Lymphadenopathy |
ORPHA:99812 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:150550 |
Roifman Syndrome |
|
Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:353298 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Renal insufficiency, Lymphadenopathy |
ORPHA:83313 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Tularemia |
|
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy... |
ORPHA:3392 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy |
OMIM:615122 |
Papa Syndrome |
|
Proteinuria, Lymphadenopathy |
ORPHA:69126 |
Medullary Thyroid Carcinoma |
|
Nodular goiter, Pheochromocytoma, Lymphadenopathy, Primary hyperparathyroidism |
ORPHA:1332 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy, Nephrotic syn... |
ORPHA:911 |
Leprechaunism |
|
Nephrocalcinosis, Long penis, Clitoral hypertrophy, Overgrowth of external genitalia, Labial hype... |
ORPHA:508 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79477 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Nephroti... |
OMIM:618935 |
Castleman Disease |
|
Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, Hematuria, Generalized lymphad... |
ORPHA:160 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Heterotaxy, Visceral, 1, X-Linked |
|
Renal agenesis, Polysplenia, Horseshoe kidney, Cardiomegaly, Hepatomegaly, Asplenia, Enlarged kidney |
OMIM:306955 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Lymphadenopathy, Goiter |
ORPHA:142 |
Scrub Typhus |
|
Renal insufficiency, Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
Roifman Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:616651 |
Hypocomplementemic Urticarial Vasculitis |
|
Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopathy, Lymphadenopathy, Hepat... |
ORPHA:36412 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased urinary urate, Recurrent urinary tract infections, Elevated urinary inosine level, Lymp... |
OMIM:613179 |
Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Recurrent urinary tract infections, Decreased response to growth hormone stimu... |
OMIM:615873 |
Ogden Syndrome |
|
Decreased testicular size, Cryptorchidism, Cardiomegaly, Global glomerulosclerosis, Hydrocele tes... |
OMIM:300855 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:507 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy |
ORPHA:3226 |
Malakoplakia |
|
Urinary bladder inflammation, Urinary hesitancy, Prostate neoplasm, Follicular hyperplasia, Orchi... |
ORPHA:556 |
Pancreatoblastoma |
|
Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:619183 |
Immunodeficiency 10 |
|
Recurrent urinary tract infections, Splenomegaly, Lymphadenopathy, Hepatomegaly, Nephrotic syndrome |
OMIM:612783 |
Cinca Syndrome |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:607115 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia |
OMIM:601859 |
Tafro Syndrome |
|
Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:457077 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:3162 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Absent tonsils, Lymph node hypoplasia |
ORPHA:276 |
Omenn Syndrome |
|
Hepatomegaly, Nephrotic syndrome, Splenomegaly, Lymphadenopathy |
ORPHA:39041 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Melkersson-Rosenthal Syndrome |
|
Oligosacchariduria, Lymphadenopathy |
ORPHA:2483 |
Klatskin Tumor |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:99978 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney |
ORPHA:500095 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:619750 |
Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... |
ORPHA:449432 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:257200 |
Griscelli Syndrome |
|
Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy |
ORPHA:381 |
Proteus Syndrome |
|
Long penis, Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Lymphangioma, Enlarged poly... |
ORPHA:744 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Enlarged kidney |
OMIM:261740 |
Omenn Syndrome |
|
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly, Lymphadenopathy |
OMIM:603554 |
Primary Myelofibrosis |
|
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:824 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:308240 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
Lymphangioleiomyomatosis |
|
Abnormal morphology of female internal genitalia, Abnormal urinary color, Pulmonary lymphangiomyo... |
ORPHA:538 |
Legionnaires Disease |
|
Bone marrow hypocellularity, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Lymphaden... |
ORPHA:549 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Duplication of renal pelvis, Polysplenia, Supernumerary nipple, Cryptorchidism, Nephroblastoma, R... |
OMIM:312870 |
Pediatric Systemic Lupus Erythematosus |
|
Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency, Hematuria, Protein... |
ORPHA:93552 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:616100 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy |
ORPHA:79456 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Hypopituitarism, Absent peripheral lymph nodes in presence of infection |
ORPHA:98813 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Nephrotic syndrome, Renal insufficiency, Lymphadenopathy |
ORPHA:139402 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy |
OMIM:301078 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent urinary tract infections, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Mediastina... |
OMIM:619802 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:100026 |
Felty Syndrome |
|
Bone marrow hypocellularity, Recurrent urinary tract infections, Splenomegaly, Lymphadenopathy, H... |
ORPHA:47612 |
Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Splenomegaly, Proteinuria, Generalized lymphadenopathy, Lymphadenopa... |
ORPHA:829 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:613011 |
Agammaglobulinemia, X-Linked |
|
Prostatitis, Lymph node hypoplasia, Epididymitis, Recurrent urinary tract infections |
OMIM:300755 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno... |
OMIM:602782 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:169090 |
Cinca Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:1451 |
Mixed Connective Tissue Disease |
|
Nephropathy, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:809 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy |
OMIM:618048 |
Cyclic Neutropenia |
|
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:2686 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Lymphadenopathy |
OMIM:304790 |
Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Lymphadenopathy, Hypersplenism |
ORPHA:98850 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal renal physiology |
ORPHA:540 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Vesicoureteral reflux, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:615895 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:343 |
Acute Monoblastic/Monocytic Leukemia |
|
Cervical lymphadenopathy, Oliguria |
ORPHA:514 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Elevated urine mevalonic acid level, Renal angio... |
OMIM:260920 |
Multiple Myeloma |
|
Nephropathy, Acute kidney injury, Splenomegaly, Lymphadenopathy, Nephrotic syndrome, Abnormality ... |
ORPHA:29073 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Hepatosplenomegaly, Elevated urine mevalonic acid level, Fluctuating he... |
OMIM:610377 |
Poems Syndrome |
|
Visceromegaly, Increased circulating prolactin concentration, Hypogonadism, Splenomegaly, Lymphad... |
ORPHA:2905 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:158061 |
Familial Mediterranean Fever |
|
Nephropathy, Nephrocalcinosis, Splenomegaly, Orchitis, Proteinuria, Lymphadenopathy, Nephrotic sy... |
ORPHA:342 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Hepatosplenomegaly, Lymphadenopathy |
ORPHA:169154 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:436159 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Hepatosplenomegaly, Lymphadenopathy, Ovarian carcinoma |
ORPHA:1333 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Enlarged tonsils, Absence of lymph node germinal center, Splenomegaly |
OMIM:308230 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy |
OMIM:606367 |
Acute Promyelocytic Leukemia |
|
Hematuria, Lymphadenopathy |
ORPHA:520 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Lymphadenitis, Splenomegaly, Lymphadenopathy |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Lymphadenitis, Splenomegaly, Lymphadenopathy |
OMIM:233710 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Generalized lymphadenopathy, Splenomegaly, Lymphadenopathy |
OMIM:614700 |
Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Cervical lymphadenopathy, Enlargement of parotid gland, Splenomeg... |
ORPHA:50918 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:267700 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy |
OMIM:603553 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Lymphadenopathy |
ORPHA:33226 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:617591 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Lymphadenopathy |
ORPHA:293173 |
Neuroblastoma |
|
Elevated urinary homovanillic acid, Lymphadenopathy, Elevated urinary vanillylmandelic acid, Elev... |
ORPHA:635 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Lymphadenitis, Splenomegaly, Lymphadenopathy |
OMIM:233690 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, Urinary retention |
ORPHA:79124 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Hepatosplenomegaly, Generalized lymphadenopathy, Lymphadenitis |
OMIM:618986 |
Carney Triad |
|
Pheochromocytoma, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:139411 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... |
ORPHA:97287 |
Coccidioidomycosis |
|
Abnormality of the male genitalia, Abnormality of the spleen, Renal insufficiency, Abnormality of... |
ORPHA:228123 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy |
ORPHA:100080 |
Cutaneous Neuroendocrine Carcinoma |
|
Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Acute Interstitial Pneumonia |
|
Lymphadenopathy |
ORPHA:79126 |
Hennekam Syndrome |
|
Horseshoe kidney, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia, Lymphangioma, Ectopi... |
ORPHA:2136 |
Multiple Endocrine Neoplasia Type 2 |
|
Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Cervical lymphadenopathy, Pheo... |
ORPHA:653 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Lymphadenopathy, Recurrent urinary tract infections |
ORPHA:83471 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Q Fever |
|
Hepatosplenomegaly, Splenomegaly, Hematuria, Lymphadenopathy, Hepatomegaly |
ORPHA:781 |
Graft Versus Host Disease |
|
Hepatosplenomegaly, Lymphadenopathy |
ORPHA:39812 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Splenomegaly, Membranous nephropathy, Lymphadenopathy, Tubulointerstitial nephritis, Nephrotic sy... |
ORPHA:37042 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy |
OMIM:617099 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:214500 |
Sarcoidosis |
|
Nephrocalcinosis, Parotitis, Abnormal lymph node morphology, Renal insufficiency, Enlargement of ... |
ORPHA:797 |
Farber Disease |
|
Hepatosplenomegaly, Lymphadenopathy |
ORPHA:333 |
Congenital Syphilis |
|
Nephrotic syndrome, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:499009 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargement of parot... |
ORPHA:79078 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Tubulointerstitial fibrosis, Lymphadenopathy |
OMIM:607944 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:98849 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Lymphadenitis, Splenomegaly, Lymphadenopathy |
OMIM:306400 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Lymphadenopathy, Splenomegaly, Orchitis |
ORPHA:32960 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Polysplenia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:619418 |
Igg4-Related Ophthalmic Disease |
|
Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pituitary, Lymphadenopathy, Abno... |
ORPHA:449563 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Bone marrow hypocellularity, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Hepatomegaly, Ren... |
OMIM:615688 |
Autoimmune Lymphoproliferative Syndrome |
|
Bone marrow hypocellularity, Hypersplenism, Renal insufficiency, Splenomegaly, Chronic noninfecti... |
ORPHA:3261 |
Brucellosis |
|
Intrarenal abscess, Hypersplenism, Splenomegaly, Orchitis, Glomerulonephritis, Lymphadenopathy, H... |
ORPHA:1304 |
Ileal Neuroendocrine Tumor |
|
Hydronephrosis, Lymphadenopathy |
ORPHA:100078 |
Common Variable Immunodeficiency |
|
Splenomegaly, Lymphadenopathy |
ORPHA:1572 |
Tangier Disease |
|
Hepatosplenomegaly, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Left ventri... |
ORPHA:31150 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormal salivary gland morphology, Splenomegaly, Hypercalciuria, Generalized lymphadenopathy, He... |
OMIM:181000 |
Immunodeficiency 31C |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:614162 |
Behçet Disease |
|
Renal insufficiency, Splenomegaly, Orchitis, Glomerulopathy, Lymphadenopathy |
ORPHA:117 |
Selective Igm Deficiency |
|
Lymphadenitis, Lymphadenopathy, Recurrent urinary tract infections |
ORPHA:331235 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Lymphadenopathy |
OMIM:617718 |
Neuroendocrine Neoplasm Of Appendix |
|
Adrenocorticotropic hormone excess, Hepatomegaly, Ovarian neoplasm, Chronic noninfectious lymphad... |
ORPHA:100079 |
Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
Primary Sjögren Syndrome |
|
Parotitis, Renal insufficiency, Glomerulonephritis, Abnormality of the kidney, Lymphadenopathy, T... |
ORPHA:289390 |
Blau Syndrome |
|
Nephropathy, Stage 5 chronic kidney disease, Clear cell renal cell carcinoma, Splenomegaly, Lymph... |
ORPHA:90340 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hepatosplenomegaly, Lymphadenopathy |
ORPHA:85408 |
Systemic Lupus Erythematosus |
|
Hematuria, Proteinuria, Lupus nephritis, Lymphadenopathy, Pyuria |
ORPHA:536 |
Chédiak-Higashi Syndrome |
|
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:167 |
Crimean-Congo Hemorrhagic Fever |
|
Parotitis, Splenomegaly, Orchitis, Hematuria, Proteinuria, Lymphadenopathy, Hepatomegaly, Epididy... |
ORPHA:99827 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Parotitis, Splenomegaly, Cardiomegaly, Lymphadenopathy, Hepatomegaly, Epididymitis |
OMIM:256040 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Increased urinary cortisol level, Pancreatic adenocarcinoma, Pheo... |
ORPHA:99889 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:667 |
Marburg Hemorrhagic Fever |
|
Renal insufficiency, Lymphadenopathy, Orchitis |
ORPHA:99826 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anoperineal fistula, Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:619381 |
Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
Leptospirosis |
|
Hepatomegaly, Acute kidney injury, Cellular urinary casts, Lymphadenopathy |
ORPHA:509 |
African Trypanosomiasis |
|
Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Hepatomegaly, Lymphadenopathy, Abnormal pr... |
ORPHA:3385 |