| Kimura Disease |
|
Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
| 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 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Esophageal carcinoma, Lymphadenopathy |
ORPHA:99977 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
| Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
| Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy |
OMIM:618852 |
| Adenocarcinoma Of The Esophagus |
|
Esophageal carcinoma, Barrett esophagus, Lymphadenopathy |
ORPHA:99976 |
| Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Oral ulcer, Lymphadenopathy |
OMIM:608971 |
| Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
| Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue, Cardiac am... |
ORPHA:314652 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Brooke-Spiegler Syndrome |
|
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... |
ORPHA:79493 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
| Pfapa Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Lymphadenopathy, Abnormal oral cavity morphology |
ORPHA:42642 |
| Igg4-Related Submandibular Gland Disease |
|
Xerostomia, Enlarged lacrimal glands, Abnormal pancreas morphology, Lymphadenopathy, Enlargement ... |
ORPHA:449432 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit... |
ORPHA:97290 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit... |
ORPHA:319487 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Cardiomegaly |
ORPHA:88643 |
| Burkitt Lymphoma |
|
Intestinal obstruction, Abnormality of the spleen, Abnormal lymph node morphology, Neoplasm of th... |
ORPHA:543 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia, Cardiomegaly |
OMIM:613576 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
| Immunodeficiency 76 |
|
Splenomegaly, Colitis, Lymphadenopathy |
OMIM:619164 |
| Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
| Al Amyloidosis |
|
Hepatomegaly, Abnormal cardiac ventricle morphology, Xerostomia, Abnormal heart morphology, Macro... |
ORPHA:85443 |
| Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
| Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Lymphadenopathy |
ORPHA:858 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... |
OMIM:620135 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Gingival overgrowth, High palate |
OMIM:269920 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:100024 |
| Congenital Myopathy 8 |
|
High palate, Cardiomegaly |
OMIM:618654 |
| Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy |
OMIM:615513 |
| Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
| Melioidosis |
|
Abnormality of the spleen, Splenic abscess, Abnormal parotid gland morphology, Parotitis |
ORPHA:31202 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Oral ulcer, Lymph... |
OMIM:602450 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Recurrent aphthous stomatitis, Lymphadenopathy |
OMIM:611762 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
| Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess |
ORPHA:100083 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Colitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:613101 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Mulibrey Nanism |
|
Hepatomegaly, Dental crowding, Cardiomegaly, Dental malocclusion, Myocardial fibrosis, Hypodontia... |
OMIM:253250 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
| Roifman Syndrome |
|
Thin upper lip vermilion, Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, ... |
OMIM:616651 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Downturned corners of mouth, A... |
OMIM:618652 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
| Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland, Nodular goit... |
ORPHA:79078 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:603552 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Abnormal intestine morphology... |
ORPHA:397596 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Mediastinal lympha... |
OMIM:181000 |
| Immunodeficiency 52 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617514 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:300853 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy |
ORPHA:85414 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Intestinal obstruction, Lymphadenopathy |
ORPHA:26790 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Recurrent aphthous stomatitis, Lymphadenopathy |
OMIM:150550 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly |
OMIM:612840 |
| Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
| Cyclic Neutropenia |
|
Premature loss of permanent teeth, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsilli... |
ORPHA:2686 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Intestinal bleeding, Ana... |
ORPHA:424019 |
| Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... |
OMIM:618534 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
| Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, S... |
OMIM:615559 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Everted lower lip... |
OMIM:300280 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Celiac disease, Splenomegaly, Hepatomegaly, Lymphadenopathy |
OMIM:619375 |
| Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:50251 |
| Roifman Syndrome |
|
Thin upper lip vermilion, Noncompaction cardiomyopathy, Lymphadenopathy, Downturned corners of mo... |
ORPHA:353298 |
| Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy |
OMIM:609981 |
| Melkersson-Rosenthal Syndrome |
|
Macroglossia, Furrowed tongue, Cheilitis, Lymphadenopathy |
ORPHA:2483 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cryptorchidism, Cleft palate, Abnormal heart morphology, Wide mouth, Abnormal ... |
OMIM:154500 |
| Acquired Hypertrichosis Lanuginosa |
|
Glossitis, Macroglossia, Ovarian neoplasm, Lymphadenopathy |
ORPHA:2221 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:2584 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatosplenomegaly |
OMIM:615122 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:37748 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Mediastinal lymphadenopathy, Ileus, ... |
ORPHA:83469 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Thick lower lip vermilion, Gingival ov... |
OMIM:239850 |
| Immunodeficiency 27A |
|
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly |
OMIM:209950 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy |
OMIM:618987 |
| Leishmaniasis |
|
Hepatomegaly, Abnormal oral mucosa morphology, Splenomegaly, Lymphadenopathy, Abnormal oral cavit... |
ORPHA:507 |
| Caspase 8 Deficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:607271 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:618495 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Protruding tongue, Abnormal atrioventricular valve morphology, Mitral valve prolaps... |
ORPHA:324410 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Generalized lymphadenopathy |
OMIM:620282 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
| American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy |
ORPHA:3386 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Anal fissure, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Oral ulcer, U... |
OMIM:618935 |
| Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:98848 |
| Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... |
ORPHA:3392 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Splenomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Abnormal pituitary gland morphology, Euthyroid goiter, Nodular goiter, Siala... |
ORPHA:64744 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Testicular atrophy |
OMIM:235200 |
| Timothy Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Microdontia, Tetralogy of Fall... |
OMIM:601005 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy |
OMIM:212050 |
| Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Lef... |
ORPHA:85451 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High pala... |
OMIM:617022 |
| Muir-Torre Syndrome |
|
Adenoma sebaceum, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm |
ORPHA:587 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:607594 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Lymphadenopathy, Stomatitis |
OMIM:613011 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Deep philtrum, High palate, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Cardiomegaly |
OMIM:618886 |
| Immunodeficiency 105 |
|
Hepatosplenomegaly, Absence of lymph node germinal center |
OMIM:619924 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Blau Syndrome |
|
Pericarditis, Splenomegaly, Xerostomia, Lymphadenopathy, Abnormal salivary gland morphology |
ORPHA:90340 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Splenomegaly, Follicular hyperplasia |
OMIM:614470 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Thick vermilion border, Cardiomegaly |
ORPHA:3137 |
| Immunodeficiency 7 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:615387 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Neoplasm of the tongue, Abnormal palate morphology |
ORPHA:100026 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, Colitis, Stom... |
ORPHA:911 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Myocarditis, O... |
ORPHA:50918 |
| Immunodeficiency 10 |
|
Amelogenesis imperfecta, Lymphadenopathy |
OMIM:612783 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... |
OMIM:306955 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, High palate, Long philtrum, Open mouth |
OMIM:618798 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Lymphadenopathy |
ORPHA:411703 |
| Heme Oxygenase 1 Deficiency |
|
Asplenia, Hepatomegaly, Cervical lymphadenopathy, Lymphadenopathy |
OMIM:614034 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal salivary gland morphology, Enlarged polycystic ovaries, Polycystic ova... |
ORPHA:2298 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79477 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Abnormal testis morphology, Abnormal lymph node morphology |
ORPHA:54251 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Igg4-Related Ophthalmic Disease |
|
Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Lymphadenopathy, Colon... |
ORPHA:449563 |
| Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E... |
ORPHA:2363 |
| Medullary Thyroid Carcinoma |
|
Nodular goiter, Primary hyperparathyroidism, Pheochromocytoma, Lymphadenopathy |
ORPHA:1332 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:619183 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Splenomegaly, Lymphocytic infiltration of the colorectal mucosa... |
OMIM:616100 |
| Thyroid Lymphoma |
|
Goiter, Lymphadenopathy |
ORPHA:97285 |
| Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Cholelithiasis |
OMIM:603903 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Recurrent aphthous stomatitis, Bone marrow hypocellu... |
OMIM:301078 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcification of dental enamel, Amelogenesis imp... |
ORPHA:169090 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Igg4-Related Kidney Disease |
|
Pericarditis, Lymphadenitis, Abnormality of the anterior pituitary, Lymphadenopathy, Sialadenitis... |
ORPHA:449395 |
| Klatskin Tumor |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:99978 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:3226 |
| Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Pancreatic islet cell adenoma... |
ORPHA:97289 |
| Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Pyloric stenosis, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:381 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
| Cinca Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:607115 |
| Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
| Cherubism |
|
Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multiple impacted tee... |
OMIM:118400 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, C... |
OMIM:602782 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia |
OMIM:601859 |
| Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:3162 |
| Anaplastic Thyroid Carcinoma |
|
Goiter, Nodular goiter, Tracheoesophageal fistula, Lymphadenopathy |
ORPHA:142 |
| Scrub Typhus |
|
Myocarditis, Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly |
ORPHA:99931 |
| Castleman Disease |
|
Intestinal obstruction, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphade... |
ORPHA:160 |
| Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Splenomegaly, Myocarditis, Bone marrow h... |
ORPHA:829 |
| Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Intestinal obstruction, Recurrent aphthous stomatitis, Lymphadenopathy |
ORPHA:343 |
| Mixed Connective Tissue Disease |
|
Hepatomegaly, Pericarditis, Gastritis, Splenomegaly, Mediastinal lymphadenopathy, Myocarditis, Xe... |
ORPHA:809 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Absent tonsils, Hepatomegaly |
ORPHA:276 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Cardiomegaly, Cleft palate, Unilateral cleft lip, Hypertrophic cardiom... |
OMIM:616897 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Lympha... |
OMIM:603909 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Lymphadenopathy |
ORPHA:36412 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:129900 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:308240 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Se... |
OMIM:604292 |
| Sandhoff Disease |
|
Hepatomegaly, Macroglossia, Cardiomegaly, Hepatosplenomegaly |
OMIM:268800 |
| Benign Schwannoma |
|
Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology |
ORPHA:252164 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:257200 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged tonsils, Oral ulcer, ... |
OMIM:308230 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Everted upper lip vermilion, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Everte... |
OMIM:608013 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Hypopituitarism, Inflammation of the large intestine, Absent peripheral lymph nodes in presence o... |
ORPHA:98813 |
| Lig4 Syndrome |
|
Hepatomegaly, Malabsorption, Cryptorchidism, Lymphadenopathy, Thin vermilion border |
ORPHA:99812 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Felty Syndrome |
|
Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:47612 |
| Rhabdoid Tumor |
|
Lymphadenopathy |
ORPHA:69077 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Intestinal obstruction, Primary testicular failure, Intestinal perforation, Abnorma... |
ORPHA:85450 |
| Hennekam Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Malabsorp... |
ORPHA:2136 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, Abnormal thymus morphology, High palate, Narrow mouth, Broad philtrum |
ORPHA:2463 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
| Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
| Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy |
OMIM:603554 |
| Legionnaires Disease |
|
Pericarditis, Myocarditis, Splenomegaly, Endocarditis, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:549 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619644 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Dilated cardiomyopathy, Lymphadenopathy, Cardiomyopath... |
OMIM:615895 |
| Cantú Syndrome |
|
Abnormal heart valve morphology, Cardiomegaly, Wide mouth, Thick vermilion border, Long philtrum,... |
ORPHA:1517 |
| Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, High palate, Atrial septal defe... |
ORPHA:79330 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Deep philtrum, Cardiomegaly |
OMIM:613320 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Immunodeficiency 97 With Autoinflammation |
|
Splenomegaly, Mediastinal lymphadenopathy, Enterocolitis, Lymphadenopathy, Hepatosplenomegaly, Co... |
OMIM:619802 |
| Primary Myelofibrosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:824 |
| Papa Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Splenomegaly, Lymphocytic infiltration of the colorectal mucosa... |
ORPHA:436159 |
| Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:83313 |
| Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphadenopathy, Oral ulcer, Hepatosplenomegaly |
ORPHA:169154 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Pancreatoblastoma |
|
Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Splenomegaly, Lymph node hypoplasia |
OMIM:613179 |
| Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy |
ORPHA:79456 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Testicular atrophy |
ORPHA:465508 |
| Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:39041 |
| Aggressive Systemic Mastocytosis |
|
Hypersplenism, Malabsorption, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:98850 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Enanthema, Myocarditis, Lymphadenopathy |
ORPHA:139402 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Atrial septal defect, Dental crowding, Left ventricular noncompaction cardiomyopathy, Ventricular... |
OMIM:300967 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Abnormality of the dentition |
ORPHA:349 |
| Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Cardiomyopathy, Cleft palate, Cardiomegaly |
ORPHA:158687 |
| Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology |
ORPHA:100080 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Difficulty in tongue move... |
ORPHA:308552 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Pierre-Robin sequence, Dilated cardiomyopa... |
OMIM:614921 |
| Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Cinca Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:1451 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Rectal abscess |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Rectal abscess |
OMIM:233710 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy |
OMIM:618048 |
| Glycogen Storage Disease Ii |
|
Macroglossia, Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
| Q Fever |
|
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ... |
ORPHA:781 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Hepatomegaly, Mediastinal lymphadenopathy, Mitral valve prolapse, Hilar... |
OMIM:620233 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Splenomegaly, Lymphadenopathy, ... |
OMIM:614700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Rectal abscess |
OMIM:233690 |
| Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu... |
ORPHA:424016 |
| Hyper-Igd Syndrome |
|
Splenomegaly, Lymphadenitis, Oral ulcer, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
| Acute Interstitial Pneumonia |
|
Pericardial effusion, Lymphadenopathy |
ORPHA:79126 |
| Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Acute Promyelocytic Leukemia |
|
Stomatitis, Gingival bleeding, Gingival overgrowth, Lymphadenopathy |
ORPHA:520 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism, Deep philtrum, Gingival overgrowth, Macroglossia, Wid... |
OMIM:618143 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:158061 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Cleft palate, Mitral valve prolapse, N... |
OMIM:245600 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly |
OMIM:606367 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Left ventri... |
ORPHA:31150 |
| Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Oral ulcer, Lymphadenopathy |
ORPHA:93552 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Narrow palate, High palate, Enlarged kidney |
OMIM:608836 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Splenomegaly, Colitis, Lymphadenopathy |
ORPHA:540 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Ileus, Lymphadenopathy |
OMIM:304790 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... |
ORPHA:97287 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Thick lower lip vermilion, Macroglossia |
OMIM:230000 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
| Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Lymphadenopathy, Hepatosplenomegaly, Co... |
ORPHA:1333 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Thick vermilion border, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
| Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology |
ORPHA:100082 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, Cervical lymphadenopathy |
OMIM:142680 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Abnormality of the dentition, Adenoiditis, Splenomegaly, Malabsorption, Recurrent t... |
ORPHA:581 |
| Graft Versus Host Disease |
|
Stomatitis, Lymphadenopathy, Oral ulcer, Hepatosplenomegaly |
ORPHA:39812 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia, Cor pulmonale |
OMIM:300755 |
| Chediak-Higashi Syndrome |
|
Hepatomegaly, Splenomegaly, Gingivitis, Lymphadenopathy, Periodontitis |
OMIM:214500 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Ventricular septal defect, Splenomegaly, Lymphadenopathy, High pa... |
OMIM:619418 |
| Waldenström Macroglobulinemia |
|
Hepatomegaly, Malabsorption, Splenomegaly, Lymphadenopathy, Gingival bleeding |
ORPHA:33226 |
| H Syndrome |
|
Cleft upper lip, Malabsorption, Gingival overgrowth, Lymphadenopathy, Hepatosplenomegaly, Decreas... |
ORPHA:168569 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| Poems Syndrome |
|
Pericardial effusion, Visceromegaly, Increased circulating prolactin concentration, Lymphadenopathy |
ORPHA:2905 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, High, narrow palate, Cardiomyopathy, Abnormal myocardium morphology |
ORPHA:228308 |
| Mevalonic Aciduria |
|
Fluctuating hepatomegaly, Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:610377 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Gingival overgrowth, Macro... |
ORPHA:96191 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:617591 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Splenomegaly, Aphthous ulcer, Dilated cardiomyopathy, Esophageal varix, Oral ulcer,... |
OMIM:615688 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Gingival overgrowth, Wide mouth, Macroglossia, Long phi... |
OMIM:252500 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:267700 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Pericarditis, Orchitis, Splenomegaly, Lymphadenopathy, Abnormal myocardiu... |
ORPHA:32960 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Carney Triad |
|
Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Pheochromocytoma, Lymphadenopathy |
ORPHA:139411 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly |
OMIM:618986 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:603553 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Sarcoidosis |
|
Hepatomegaly, Enlarged lacrimal glands, Abnormal lymph node morphology, Enlargement of parotid gl... |
ORPHA:797 |
| Familial Mediterranean Fever |
|
Intestinal obstruction, Pericarditis, Malabsorption, Orchitis, Splenomegaly, Lymphadenopathy, Ora... |
ORPHA:342 |
| Rat-Bite Fever |
|
Pericarditis, Myocarditis, Lymphadenitis, Endocarditis, Parotitis |
ORPHA:31205 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Deep philtrum, Short philtrum... |
OMIM:300855 |
| Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
| Common Variable Immunodeficiency |
|
Gastrointestinal stroma tumor, Splenomegaly, Anal atresia, Lymphadenopathy |
ORPHA:1572 |
| Lymphatic Filariasis |
|
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Vaginal hydrocele, Lymphadenopathy,... |
ORPHA:2035 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r... |
ORPHA:95430 |
| Cutaneous Neuroendocrine Carcinoma |
|
Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
| Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Mechanical ileus, Chronic noninfectious lymphadenopathy, Tricuspid stenosis, Midgut... |
ORPHA:100079 |
| Acute Generalized Exanthematous Pustulosis |
|
Cheilitis, Lymphadenopathy |
ORPHA:293173 |
| Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Rectal abscess |
OMIM:306400 |
| Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Cervical lymphadenopathy, Cheilitis, ... |
ORPHA:2331 |
| Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding |
ORPHA:252183 |
| Immunodeficiency 31C |
|
Hepatomegaly, Villous atrophy, Splenomegaly, Lymphadenopathy, Protein-losing enteropathy, Intussu... |
OMIM:614162 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hepatomegaly, Abnormal pulmonary valve morphology, Premature loss of p... |
ORPHA:667 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Splenomegaly, Peptic ulcer, Lymphadenopathy |
ORPHA:98849 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Inflammation of the large intestine, Cervical lymphadenopathy, Colonic eosinophilia, Lymphadenopathy |
OMIM:617718 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Absence of lymph node germinal center, Hepatosplenomegaly |
ORPHA:79124 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Cleft lip, Cleft palate, Abnormal cardiac septum morphology, Cholelithiasis, Annula... |
ORPHA:97297 |
| Malt Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
| Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Tricuspid stenosis, Pulmonic stenosis, Lymphadenopathy |
ORPHA:100078 |
| Chédiak-Higashi Syndrome |
|
Pericardial effusion, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Periodontitis, Gingival ... |
ORPHA:167 |
| Behçet Disease |
|
Pericarditis, Malabsorption, Orchitis, Splenomegaly, Oral ulcer, Endocarditis, Lymphadenopathy, R... |
ORPHA:117 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Thick lower lip vermilion, Lymphadenopathy, Macroglossi... |
OMIM:256040 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy |
OMIM:617099 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly |
OMIM:618278 |
| Farber Disease |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:333 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Gastritis, Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymp... |
ORPHA:3261 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Intestinal obstruction, Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Villous atrophy, Necrotizing enterocolitis, Atrophic gastritis, Cervical lymphadeno... |
OMIM:619573 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Malabsorption, Splenomegaly, Ileus, Lymphadenopathy, Colitis, Abnormal intestine morph... |
ORPHA:37042 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Premature loss of primary teeth, Cardiomegaly, Abnormality of dental s... |
ORPHA:3472 |
| Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology |
ORPHA:100075 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Malabsorption, Aplasia of the thymus, Lymphadenopathy |
ORPHA:83471 |
| Lymphangioleiomyomatosis |
|
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Chylopericardium, Lymphadeno... |
ORPHA:538 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Malakoplakia |
|
Follicular hyperplasia, Orchitis, Abnormality of the tongue, Neoplasm of the rectum, Neoplasm of ... |
ORPHA:556 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Polycystic ovaries |
ORPHA:137675 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
High, narrow palate, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas morphology, Pseudohyp... |
ORPHA:116 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Difficulty in tongue move... |
ORPHA:365 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Macroglossia, Cardiomyopathy,... |
OMIM:130650 |
| Selective Igm Deficiency |
|
Lymphadenitis, Tooth abscess, Stomach cancer, Lymphadenopathy |
ORPHA:331235 |
| Brucellosis |
|
Hepatomegaly, Pericarditis, Hypersplenism, Splenomegaly, Orchitis, Myocarditis, Endocarditis, Lym... |
ORPHA:1304 |
| Williams Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Rectal prolapse, Microdontia, Atrial septal defect, Overridi... |
ORPHA:904 |
| Multiple Myeloma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:29073 |
| Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Abetalipoproteinemia |
|
Hepatomegaly, Fat malabsorption, Cardiomegaly, Steatorrhea |
ORPHA:14 |
| Systemic Lupus Erythematosus |
|
Abnormal pigmentation of the oral mucosa, Cheilitis, Oral ulcer, Lymphadenopathy |
ORPHA:536 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85408 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Follicular hyperplasia, Splenomegaly, Oral ulcer, Lym... |
OMIM:619381 |
| Coccidioidomycosis |
|
Abnormality of the spleen, Pericarditis, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:228123 |
| Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Thyroid C cell hyperplasia, Cervical lymphadenopathy, Primary hyperparathy... |
ORPHA:653 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphadenopathy |
OMIM:607944 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly... |
OMIM:619991 |
| Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Orchitis, Splenomegaly, Pericardial effusion, Myocarditis, Lymphadenopathy, Gingiva... |
ORPHA:99827 |
| Plague |
|
Chapped lip, Hepatomegaly, Splenomegaly, Lymphadenitis, Enterocolitis, Endocarditis, Enlarged mes... |
ORPHA:707 |
| Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hepatosplenomegaly |
ORPHA:51 |
| Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Mitral valve calcification, Cardiomegaly, Carious teeth, Aortic valve c... |
OMIM:182250 |
| Chikungunya |
|
Cervical lymphadenopathy, Gingival bleeding, Lymphadenopathy |
ORPHA:324625 |
| Primary Sjögren Syndrome |
|
Xerostomia, Parotitis, Lymphadenopathy |
ORPHA:289390 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pitui... |
ORPHA:99889 |
| African Trypanosomiasis |
|
Hepatomegaly, Pericarditis, Splenomegaly, Myocarditis, Hepatosplenomegaly, Abnormal prolactin lev... |
ORPHA:3385 |
| Marburg Hemorrhagic Fever |
|
Orchitis, Pericarditis, Lymphadenopathy |
ORPHA:99826 |
| Leptospirosis |
|
Hepatomegaly, Pericarditis, Lymphadenopathy |
ORPHA:509 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Myocardial calcification, Pancreatic... |
ORPHA:51608 |
