Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Lymphadenopathy, Rec... |
ORPHA:499 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Dissecting Cellulitis Of The Scalp |
|
Edema, Recurrent skin infections |
ORPHA:345 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency 104 |
|
Otitis media, Splenomegaly, Eczema, Chronic mucocutaneous candidiasis, Pneumonia, Recurrent otiti... |
OMIM:608971 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Immunodeficiency 75 |
|
Bronchiectasis, Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:619126 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... |
OMIM:608106 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Meige Disease |
|
Predominantly lower limb lymphedema, Recurrent bacterial skin infections, Facial edema, Recurrent... |
ORPHA:90186 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Follicular hyperplasia, Mediastinal lymphadenopathy |
ORPHA:60026 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Recurrent otiti... |
OMIM:618982 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... |
OMIM:240500 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy, Conjunctivitis, Arthritis |
OMIM:617772 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Eczema, Decreased... |
OMIM:607271 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Increased circulating antibody level, Pustule, Myositis, Arthritis, Increased in... |
ORPHA:69126 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:607594 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Increased circulating IgG level, Increased circulating IgM level, Recur... |
OMIM:619220 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, Increased circulating IgM level, Br... |
OMIM:615513 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Joint swelling, Skin rash, Splenomegaly, Juvenile rheumatoid arthritis, Anterior uveitis, Pleural... |
ORPHA:85414 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Absence of lymph node g... |
ORPHA:277 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphadenopathy, Splenomegaly, Recurrent otitis media |
ORPHA:444463 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Skin rash, Splenomegaly, Edema, Lymphadenopathy, Conjunctivitis |
OMIM:603552 |
Tularemia |
|
Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis media, Cervical lymphaden... |
ORPHA:3392 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... |
OMIM:300853 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Immunodeficiency 27B |
|
Salmonella osteomyelitis, Osteomyelitis, Generalized lymphadenopathy |
OMIM:615978 |
Immunodeficiency 27A |
|
Enlarged mesenteric lymph node, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level... |
OMIM:209950 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Impaired Ig cl... |
OMIM:605258 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphedema, Pleural effusion, Lymphadenopathy |
ORPHA:545 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Predominantly lower limb lymphedema, Facial edema, Genital edema, Recurrent skin infections, Abno... |
ORPHA:568051 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Bronchiectasis, Osteomyelitis, Impaired Ig class switch recombination, Absence of lymph node germ... |
OMIM:608184 |
Immunodeficiency 64 |
|
Increased circulating IgA level, Decreased circulating IgG level, Defective T cell proliferation,... |
OMIM:618534 |
Classic Mycosis Fungoides |
|
Skin rash, Splenomegaly, Eczema, Edema, Lymphadenopathy |
ORPHA:2584 |
Kimura Disease |
|
Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Immunodeficiency 52 |
|
Splenomegaly, Decreased circulating antibody level, Recurrent pneumonia, Bronchiectasis, Lymphade... |
OMIM:617514 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Splenomegaly, Arthritis, Recurrent aphthous stomatitis, Lymphadenopathy, Erythema nodosum |
OMIM:611762 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomegaly, Recurrent sin... |
OMIM:613101 |
Immunodeficiency 76 |
|
Lymphadenopathy, Colitis, Recurrent pneumonia, Splenomegaly |
OMIM:619164 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Skin rash, Decreased circulatin... |
OMIM:619924 |
Melkersson-Rosenthal Syndrome |
|
Cheilitis, Inflammatory abnormality of the skin, Periorbital edema, Edema, Lymphadenopathy |
ORPHA:2483 |
Mycosis Fungoides |
|
Eczema, Lymphadenopathy, Psoriasiform dermatitis |
OMIM:254400 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Absent isohemagglutinin level, Splenomegaly, Hepatosplenome... |
OMIM:615559 |
Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Lymphadenop... |
OMIM:618261 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, ... |
OMIM:616100 |
Pseudomyxoma Peritonei |
|
Ascites, Inflammation of the large intestine, Lymphadenopathy |
ORPHA:26790 |
Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Hepatosplenomegaly, EBV encephalitis, Uveitis, Decreased circulating antibody level... |
OMIM:615122 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Skin rash, Splenomegaly, Maculopapular exanthema, Mastocytosis, In... |
ORPHA:98848 |
Cinca Syndrome |
|
Skin rash, Hepatosplenomegaly, Arthritis, Uveitis, Lymphedema, Lymphadenopathy |
OMIM:607115 |
Alpha-Heavy Chain Disease |
|
Lymphadenopathy, Ascites, Dysgammaglobulinemia, Splenomegaly |
ORPHA:100025 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Splenomegaly, Recurrent tonsillitis, Eczema, Lymphadenitis, Hepatosplenomegaly, ... |
OMIM:618935 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Myositis, Edema, Lymphadenopathy, Panniculitis |
OMIM:619183 |
Pfapa Syndrome |
|
Lymphadenopathy, Splenomegaly, Infectious encephalitis, Arthritis |
ORPHA:42642 |
Schnitzler Syndrome |
|
Skin rash, Splenomegaly, Arthritis, Increased circulating IgM level, Lymphadenopathy |
ORPHA:37748 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Lymphadenopathy, Chronic oral candidiasis |
OMIM:212050 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphocytic interstitial pneumonia, Splenomegaly, Increased circulating IgG level, Recurrent otit... |
OMIM:618495 |
Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Macrophage Activation Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Thymic Tumor |
|
Palpebral edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Dysgammaglobulinemia, Edema... |
ORPHA:100100 |
American Trypanosomiasis |
|
Skin rash, Splenomegaly, Myocarditis, Infectious encephalitis, Edema, Periorbital edema, Lymphade... |
ORPHA:3386 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma |
ORPHA:615 |
Sézary Syndrome |
|
Splenomegaly, Abnormal immunoglobulin level, Edema, Erythroderma, Lymphadenopathy |
ORPHA:3162 |
Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Splenomegaly, Recurrent aphthous stomatitis, Recurrent pneumonia, Bronc... |
OMIM:150550 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Increased circulating... |
OMIM:618048 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Follicular hyperplasia, Decreased circulating antibody level, ... |
OMIM:619846 |
Acute Lung Injury |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Colitis, Chronic oral candidiasis, Skin rash, Abnormality of... |
ORPHA:911 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating IgG level, Incre... |
OMIM:308230 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:540 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy, Dysgammaglobulinemia |
ORPHA:158014 |
Hypocomplementemic Urticarial Vasculitis |
|
Skin rash, Splenomegaly, Arthritis, Angioedema, Episcleritis, Uveitis, Pleural effusion, Inflamma... |
ORPHA:36412 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgA level, Colitis, Conjunctivitis, Decreased circulating IgG level, Spleno... |
OMIM:614700 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Lymphadenopathy, Splenomegaly |
ORPHA:100024 |
Danon Disease |
|
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... |
OMIM:300257 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly, Recurrent skin infections |
OMIM:612840 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Cyclic Neutropenia |
|
Periodontitis, Sinusitis, Enterocolitis, Recurrent skin infections, Otitis media, Cervical lympha... |
ORPHA:2686 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Sinusitis, Skin rash, Splenomegaly, Myositis, Arthritis, Pe... |
OMIM:617591 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:600649 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Splenomegaly, Fulminant hepatitis, Reduced natural killer cell a... |
OMIM:308240 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Pustule, Skin rash, Interstitial pneumonitis, Myocarditis, Angioedema, Hepatitis, Tubulointerstit... |
ORPHA:139402 |
Periodic Fever, Familial, Autosomal Dominant |
|
Oligoarthritis, Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Erysipelas, Myositi... |
OMIM:142680 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating interleukin 6 concentration, Nephritis, Cervical lymphadenopathy, Lymphaden... |
OMIM:614034 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Bronchiectasis, Lymphadenopathy, Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Immunodeficiency 7 |
|
Lymphadenopathy |
OMIM:615387 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Griscelli Syndrome |
|
Splenomegaly, Hepatitis, Pedal edema, Decreased circulating antibody level, Bone marrow hypocellu... |
ORPHA:381 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Recurrent tonsillitis, Splenomegaly |
OMIM:618852 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Chronic otitis media, Lymphedema, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:3226 |
Boutonneuse Fever |
|
Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Increased circulating IgG level, In... |
ORPHA:83313 |
Immunodeficiency 91 And Hyperinflammation |
|
Maculopapular exanthema, Hepatosplenomegaly, Membranoproliferative glomerulonephritis, Recurrent ... |
OMIM:619644 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Splenomegaly, Stomatitis, Decreased circulating antibody level, ... |
OMIM:613011 |
Roifman Syndrome |
|
Hepatosplenomegaly, Eczema, Decreased circulating antibody level, Recurrent pneumonia, Recurrent ... |
ORPHA:353298 |
Kaposi Sarcoma |
|
Generalized lymphadenopathy, Lymphedema, Abnormality of the spleen, Skin rash |
ORPHA:33276 |
Adult-Onset Still Disease |
|
Joint swelling, Skin rash, Splenomegaly, Myocarditis, Arthritis, Generalized lymphadenopathy, Hep... |
ORPHA:829 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Glomerulonephritis, Lymphadenopathy, Thyroiditis, Splenomegaly |
OMIM:619375 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Joint swelling, Increased circulating IgA level, Skin rash, Increased circulating IgM level, Lymp... |
OMIM:617099 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Lymphadenopathy, Skin rash, Splenomegaly |
ORPHA:391 |
Omenn Syndrome |
|
Splenomegaly, Edema, Pneumonia, Erythroderma, Lymphadenopathy, Thyroiditis |
ORPHA:39041 |
Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... |
ORPHA:85451 |
Felty Syndrome |
|
Sinusitis, Splenomegaly, Chronic otitis media, Arthritis, Episcleritis, Recurrent pneumonia, Bone... |
ORPHA:47612 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Enterocolitis, Recurre... |
OMIM:619802 |
Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis |
OMIM:212140 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:86893 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Pulmonar... |
ORPHA:542323 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Nephritis, Splenomegaly, Chronic noninfectious lymphadenopathy, ... |
OMIM:603909 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Splenomegaly, Otitis media, Aplasia of the thymus, Panhypogammaglobulinemia, Generalized lymphade... |
OMIM:602450 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:269920 |
Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Nephritis, Skin rash, Myositis, Arthritis, Pleural effusion, Edema, Malar ras... |
ORPHA:93552 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... |
OMIM:115197 |
Scrub Typhus |
|
Skin rash, Splenomegaly, Myocarditis, Anterior uveitis, Infectious encephalitis, Lymphadenopathy |
ORPHA:83317 |
Mixed Connective Tissue Disease |
|
Joint swelling, Gastritis, Skin rash, Splenomegaly, Xerostomia, Mediastinal lymphadenopathy, Myos... |
ORPHA:809 |
Selective Igm Deficiency |
|
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Decreased specific antibody respons... |
ORPHA:331235 |
Cinca Syndrome |
|
Splenomegaly, Uveitis, Edema, Retrobulbar optic neuritis, Lymphadenopathy, Inflammatory abnormali... |
ORPHA:1451 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes |
ORPHA:97290 |
Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pericardial constriction |
OMIM:253250 |
Roifman Syndrome |
|
Splenomegaly, Eczema, Recurrent pneumonia, Recurrent otitis media, Lymphadenopathy |
OMIM:616651 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Pneumonia, Erythroderma, Lymphadenopathy |
OMIM:603554 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes |
ORPHA:319487 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased circulating IgA level, Chronic o... |
OMIM:606367 |
Pleural Mesothelioma |
|
Lymphadenopathy, Pleural effusion |
ORPHA:50251 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:98293 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... |
ORPHA:2041 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Chronic oral candidiasis, Splenomegaly, Recurrent aphthous stoma... |
OMIM:301078 |
Leishmaniasis |
|
Increased circulating antibody level, Rhinitis, Splenomegaly, Lymphadenopathy |
ORPHA:507 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Glomerulonephritis, Arthritis, Hepatitis, Erythroderma, Increased circulating IgE level, ... |
OMIM:304790 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Granulomatous Slack Skin |
|
Abnormality of the lymph nodes |
ORPHA:33111 |
Diffuse Cutaneous Mastocytosis |
|
Erythroderma, Lymphadenopathy, Abnormality of the spleen, Peau d'orange |
ORPHA:79456 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Pulmonary lymphangiectasia, Chylous ascites, Palpebral edema, Nonimmun... |
OMIM:265300 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly |
OMIM:256550 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic hepatitis, Hepatosplenomeg... |
ORPHA:39812 |
Q Fever |
|
Increased circulating antibody level, Osteomyelitis, Splenomegaly, Maculopapular exanthema, Hepat... |
ORPHA:781 |
Hyper-Igd Syndrome |
|
Chronic oral candidiasis, Increased circulating IgA level, Skin rash, Splenomegaly, Lymphadenitis... |
OMIM:260920 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Recurrent pneumonia |
OMIM:619750 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Sp... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Sp... |
OMIM:233710 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Dec... |
OMIM:618986 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular ... |
OMIM:601859 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion |
OMIM:617300 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level, Peritonitis, Arthritis, Recurrent aphthous stomatitis, Lymphaden... |
ORPHA:343 |
Aggressive Systemic Mastocytosis |
|
Abnormal mast cell morphology, Maculopapular exanthema, Hepatosplenomegaly, Increased proportion ... |
ORPHA:98850 |
Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... |
OMIM:306400 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating antibody level, Increased circulating IgA level, Hepatosplenomegaly, Increa... |
ORPHA:169154 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Orchitis, Skin rash, Splenomegaly, Peritonitis, Erysipelas, Myositis, Arthritis, Uveitis, Fasciit... |
ORPHA:32960 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly |
OMIM:239850 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Sp... |
OMIM:233690 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the lymph nodes |
ORPHA:543 |
Legionnaires Disease |
|
Pancreatitis, Splenomegaly, Endocarditis, Myocarditis, Hepatitis, Infectious encephalitis, Bone m... |
ORPHA:549 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly |
OMIM:235200 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Joint swelling, Iridocyclitis, Oligoarthritis, Hepatosplenomegaly, Arthritis, Hip osteoarthritis,... |
ORPHA:85408 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent peripheral lymph nodes in presence of infection, Panhypogammaglobulinemia, Pneumonia, Recu... |
OMIM:600802 |
Thyroid Lymphoma |
|
Lymphadenopathy, Hashimoto thyroiditis |
ORPHA:97285 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Pustule, Skin rash, Follicular hyperplasia, Myositis, Increased ... |
OMIM:615934 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Acute Interstitial Pneumonia |
|
Peripheral edema, Pleural effusion, Bronchiectasis, Lymphadenopathy, Pericardial effusion |
ORPHA:79126 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatosplenomegaly, Absence of lymph node germinal center, Panhypogammaglobulinemia, Recurrent as... |
ORPHA:79124 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Autoimmune Lymphoproliferative Syndrome |
|
Gastritis, Hypersplenism, Uveitis, Bone marrow hypocellularity, Increased circulating antibody le... |
ORPHA:3261 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mitral valve prolapse, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiom... |
ORPHA:324410 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Follicular hyperplasia, Splenomegaly |
OMIM:614470 |
Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Orchitis, Lymphadenitis, Abnormality of the lymphatic system... |
ORPHA:2035 |
Familial Mediterranean Fever |
|
Pancreatitis, Orchitis, Skin rash, Splenomegaly, Peritonitis, Osteoarthritis, Erysipelas, Arthrit... |
ORPHA:342 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Thyroiditis, Eczematoid dermatitis, Gastritis, Colitis, Osteomyelitis, Inflammatory abnormality o... |
ORPHA:37042 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Skin rash, Splenomegaly, Hepatosplenomegaly, Reduced natural killer cell activity, Infectious enc... |
OMIM:603553 |
Lymphatic Malformation 6 |
|
Facial edema, Chylothorax, Genital edema, Splenomegaly, Nonimmune hydrops fetalis, Polyhydramnios... |
OMIM:616843 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Lymphadenopathy, Chronic otitis media, Pneumonia, Splenomegaly |
ORPHA:169090 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly |
OMIM:261740 |
Mevalonic Aciduria |
|
Skin rash, Fluctuating splenomegaly, Increased circulating IgD level, Hepatosplenomegaly, Edema, ... |
OMIM:610377 |
Common Variable Immunodeficiency |
|
Otitis media, Splenomegaly, Chronic otitis media, Decreased circulating antibody level, Pneumonia... |
ORPHA:1572 |
Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Lymphadenopathy, Skin rash, Splenomegaly |
ORPHA:100026 |
Sweet Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Mediastinal lymphadenopathy, Pedal edema, Pleural effusion, Lymphadenopathy, Per... |
ORPHA:199241 |
Thymic Aplasia |
|
Sinusitis, Eczematoid dermatitis, Chronic oral candidiasis, Aplasia of the thymus, Chronic otitis... |
ORPHA:83471 |
Castleman Disease |
|
Increased circulating interleukin 6 concentration, Follicular hyperplasia, Mediastinal lymphadeno... |
ORPHA:160 |
Coccidioidomycosis |
|
Osteomyelitis, Pancreatitis, Folliculitis, Skin rash, Pleural empyema, Peritonitis, Mediastinal l... |
ORPHA:228123 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating antibody level, Prostatitis, Facial edema, Xerostomia, Increased circulatin... |
ORPHA:449432 |
Brucellosis |
|
Myocarditis, Epididymitis, Knee osteoarthritis, Pneumonia, Pericarditis, Septic arthritis, Osteom... |
ORPHA:1304 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
Desmoplastic Small Round Cell Tumor |
|
Ascites, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:83469 |
Chikungunya |
|
Joint swelling, Facial edema, Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Arthr... |
ORPHA:324625 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:201475 |
Immunodeficiency 82 With Systemic Inflammation |
|
Joint swelling, Crohn's disease, Osteomyelitis, Colitis, Gastritis, Skin rash, Recurrent skin inf... |
OMIM:619381 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... |
OMIM:306955 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphadenopathy, Inflammation of the large intestine |
OMIM:617718 |
Kikuchi-Fujimoto Disease |
|
Pustule, Skin rash, Splenomegaly, Cervical lymphadenopathy, Abnormality of the lymph nodes, Palpe... |
ORPHA:50918 |
Igg4-Related Kidney Disease |
|
Prostatitis, Pancreatitis, Inflammatory abnormality of the skin, Increased circulating IgG1 level... |
ORPHA:449395 |
Niemann-Pick Disease, Type A |
|
Ascites, Lymphadenopathy, Splenomegaly |
OMIM:257200 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
X-Linked Lymphoproliferative Disease |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Nephritis, Increased c... |
ORPHA:2442 |
Fish-Eye Disease |
|
Lymphadenopathy, Splenomegaly |
ORPHA:79292 |
Behçet Disease |
|
Optic neuritis, Pancreatitis, Orchitis, Splenomegaly, Endocarditis, Myositis, Keratoconjunctiviti... |
ORPHA:117 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Cardiomegaly |
OMIM:617022 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Hennekam Syndrome |
|
Lymphangioma, Chylothorax, Splenomegaly, Pulmonary lymphangiectasia, Hydrops fetalis, Erysipelas,... |
ORPHA:2136 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:616897 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... |
ORPHA:1329 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Ab... |
ORPHA:363705 |
Immunodeficiency 54 |
|
Lymphadenopathy, Splenomegaly |
OMIM:609981 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Poems Syndrome |
|
Increased circulating antibody level, Pleural effusion, Edema, Ascites, Pericardial effusion, Lym... |
ORPHA:2905 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Skin rash, Splenomegaly, Eczema, Hepatosplenomegaly, Arthritis, Recurrent sinusitis, Decreased ci... |
OMIM:615688 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ca... |
ORPHA:57777 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Generalized edema, Lymphadenopathy, Infectious encephalitis, Splenomegaly |
OMIM:267700 |
Immunodeficiency 55 |
|
Eczema, Lymphadenopathy, Recurrent skin infections |
OMIM:617827 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Splenomegaly, Eczema, Lymphadenitis, Inflammation of the large intestine, Erythroderma, Lymphaden... |
OMIM:615895 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion, Iridocyclitis, Oligoarthritis, Skin rash, Iritis,... |
ORPHA:85436 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
Cold Agglutinin Disease |
|
Lymphadenopathy, Splenomegaly |
ORPHA:56425 |
Farber Disease |
|
Joint swelling, Hepatosplenomegaly, Hydrops fetalis, Arthritis, Lymphadenopathy, Ascites |
ORPHA:333 |
Rhabdoid Tumor |
|
Lymphadenopathy |
ORPHA:69077 |
Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart morphology |
OMIM:114620 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatosplenomegaly, Tubulointerstitial nephritis, Lymphadenopathy, Abnormality of the lymph nodes |
ORPHA:85450 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly |
ORPHA:465508 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Abnormality of the lymph nodes |
ORPHA:54251 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Facial edema, Increased circulating IgA level, Xerostomia, Palpebral edema, Myositis, Increased c... |
ORPHA:79078 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Pedal edema, Pleural effusion, Periorbital edema, Monoclonal immunoglobulin M prote... |
ORPHA:33226 |
Aicardi-Goutieres Syndrome 7 |
|
Increased circulating antibody level, Skin rash, Splenomegaly, Atopic dermatitis, Chilblains, Art... |
OMIM:615846 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Ascites, Cholecystitis |
ORPHA:100086 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Sickle Cell Anemia |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:603903 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Joint swelling, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Recurrent sinusitis, Pneumon... |
OMIM:607944 |
Igg4-Related Ophthalmic Disease |
|
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Orchitis, Palpebral edema, Increased circulating... |
ORPHA:449563 |
Blau Syndrome |
|
Keratitis, Joint swelling, Iridocyclitis, Skin rash, Splenomegaly, Xerostomia, Abnormal inflammat... |
ORPHA:90340 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:1517 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
Sarcoidosis, Susceptibility To, 1 |
|
Increased circulating antibody level, Iridocyclitis, Splenomegaly, Mediastinal lymphadenopathy, I... |
OMIM:181000 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... |
OMIM:620066 |
Griscelli Syndrome Type 2 |
|
Lymphadenopathy, Splenomegaly |
ORPHA:79477 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Periodontitis, Skin rash, Splenomegaly, Hepatosplenomegaly, ... |
ORPHA:167 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Abnormality of interleukin secretion, Lymphadenopathy |
ORPHA:101096 |
Immunodeficiency 10 |
|
Lymphadenopathy |
OMIM:612783 |
Malt Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Posterior uveitis |
ORPHA:52417 |
Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Decreased circula... |
ORPHA:420741 |
H Syndrome |
|
Upper eyelid edema, Hepatosplenomegaly, Chronic rhinitis, Bronchiectasis, Lymphadenopathy, Psoria... |
ORPHA:168569 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly |
ORPHA:308552 |
Mogs-Cdg |
|
Atrial septal defect, Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly |
ORPHA:79330 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Primary Sjögren Syndrome |
|
Increased circulating antibody level, Chronic active hepatitis, Optic neuritis, Lymphocytic inter... |
ORPHA:289390 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Decreased circula... |
ORPHA:29073 |
Kawasaki Disease |
|
Cheilitis, Skin rash, Cervical lymphadenopathy, Myocarditis, Cholecystitis, Arthritis, Hepatitis,... |
ORPHA:2331 |
Infection-Related Hemolytic Uremic Syndrome |
|
Acute colitis, Increased circulating interleukin 6 concentration, Pancreatitis, Pleural empyema, ... |
ORPHA:544482 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Enlarged kidney |
OMIM:608836 |
Idiopathic Hypereosinophilic Syndrome |
|
Joint swelling, Colitis, Pancreatitis, Inflammatory abnormality of the skin, Splenomegaly, Cervic... |
ORPHA:3260 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:608013 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase... |
OMIM:256040 |
Primary Myelofibrosis |
|
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:824 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Hepatosplenomegaly, Ventricu... |
OMIM:602782 |
Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:614921 |
Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Periodontitis, Splenomegaly, Impaired neutrophil bactericida... |
OMIM:214500 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:230000 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... |
OMIM:245600 |
Truncus Arteriosus |
|
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
ORPHA:3384 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly |
ORPHA:228308 |
Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... |
ORPHA:980 |
Lymphangioleiomyomatosis |
|
Chylopericardium, Chylothorax, Abnormality of the lymphatic system, Lymphedema, Pulmonary lymphan... |
ORPHA:538 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
Acute Promyelocytic Leukemia |
|
Stomatitis, Lymphadenopathy |
ORPHA:520 |
Plague |
|
Enlarged mesenteric lymph node, Enterocolitis, Skin rash, Splenomegaly, Lymphadenitis, Endocardit... |
ORPHA:707 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Orchitis, Skin rash, Follicular hyperplasia, Urinary bladde... |
ORPHA:556 |
Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... |
ORPHA:95430 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... |
ORPHA:1677 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Crimean-Congo Hemorrhagic Fever |
|
Orchitis, Conjunctivitis, Splenomegaly, Parotitis, Increased circulating IgG level, Myocarditis, ... |
ORPHA:99827 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:1332 |
Carney Triad |
|
Ascites, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:139411 |
Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Hepatomegaly, Splenomegaly, Abnormal aortic valve morphology, A... |
ORPHA:581 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
Sarcoidosis |
|
Joint swelling, Chylothorax, Abnormality of the lymph nodes, Maculopapular exanthema, Tubulointer... |
ORPHA:797 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... |
ORPHA:99125 |
Lig4 Syndrome |
|
Lymphadenopathy |
ORPHA:99812 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:618278 |
Marburg Hemorrhagic Fever |
|
Increased circulating antibody level, Pancreatitis, Orchitis, Skin rash, Maculopapular exanthema,... |
ORPHA:99826 |
Leptospirosis |
|
Optic neuritis, Skin rash, Hepatitis, Uveitis, Pleural effusion, Pericarditis, Lymphadenopathy |
ORPHA:509 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Splenomegaly, Enlarged kidney, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:252500 |
Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... |
OMIM:300967 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly |
ORPHA:98849 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Hepatomegaly, Cardiomegaly |
ORPHA:96191 |
Ogden Syndrome |
|
Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal defect, Enlarged kidney, Vent... |
OMIM:300855 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Hepatomegaly, Cardiomegaly |
ORPHA:137675 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopathy, Cardiomegaly |
OMIM:130650 |
Autosomal Recessive Malignant Osteopetrosis |
|
Chronic rhinitis, Lymphadenopathy, Splenomegaly, Otitis media |
ORPHA:667 |
Ileal Neuroendocrine Tumor |
|
Lymphadenopathy, Edema |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Lymphadenopathy, Edema |
ORPHA:100077 |
Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
Pancreatoblastoma |
|
Abnormality of the lymph nodes |
ORPHA:677 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly |
ORPHA:365 |
Parenteral Nutrition-Associated Cholestasis |
|
Abnormality of cytokine secretion, Splenomegaly |
ORPHA:567983 |
Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... |
ORPHA:75565 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Polysplenia, Lymphadenopathy, Splenomegaly |
OMIM:619418 |
Duodenal Neuroendocrine Tumor |
|
Lymphadenopathy, Edema |
ORPHA:100076 |
Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
Familial Pancreatic Carcinoma |
|
Hepatosplenomegaly, Lymphadenopathy |
ORPHA:1333 |
African Trypanosomiasis |
|
Keratitis, Optic neuritis, Splenomegaly, Iritis, Hepatosplenomegaly, Myelitis, Myocarditis, Peric... |
ORPHA:3385 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Recurrent cutaneous fungal infections, Abnormality of the lymph nodes, Neoplasm of the thymus, Pe... |
ORPHA:99889 |
Liver Disease, Severe Congenital |
|
Atrial septal defect, Hepatomegaly, Splenomegaly, Ventricular septal defect, Subvalvular aortic s... |
OMIM:619991 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Splenomegaly, Enlarged kidney, Visceromegaly, Hypertrophic cardiomyopathy, Cardiome... |
ORPHA:116 |
Yunis-Varon Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomyopathy, Cardiomegaly |
ORPHA:3472 |
Williams Syndrome |
|
Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrial septal defect, Overriding aorta... |
ORPHA:904 |
Singleton-Merten Syndrome 1 |
|
Aortic valve calcification, Aortic valve stenosis, Mitral valve calcification, Subvalvular aortic... |
OMIM:182250 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Pericardial effusion, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |