Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... |
ORPHA:499 |
Dissecting Cellulitis Of The Scalp |
|
Recurrent skin infections, Edema |
ORPHA:345 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency 104 |
|
Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy, Otitis media... |
OMIM:608971 |
Immunodeficiency 75 With Lymphoproliferation |
|
Lymphadenopathy, Hepatosplenomegaly, Bronchiectasis, Follicular hyperplasia |
OMIM:619126 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... |
OMIM:608106 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Meige Disease |
|
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... |
ORPHA:90186 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Lymphadenopathy, He... |
OMIM:618982 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectas... |
OMIM:240500 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis, Lymphadenopathy |
OMIM:617772 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Bronchiectasis, Lymphadenopathy, Increased circulating IgG level, Incre... |
OMIM:619220 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c... |
ORPHA:69126 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Bronchiectasis, Lymphadenopathy, Increased circulating IgM level, Decreased circula... |
OMIM:615513 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Splenomegaly, Lymphadenopathy, Joint swelling, Pleural... |
ORPHA:85414 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphaden... |
OMIM:607594 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Tularemia |
|
Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology, Mediastinal l... |
ORPHA:3392 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Splenomegaly, Decreased specific anti-polysaccharide antibody level,... |
OMIM:300853 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Skin rash, Edema, Splenomegaly, Lymphadenopathy, Conjunctivitis |
OMIM:603552 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Splenomegaly, Hepatitis, Lymphadenopathy |
ORPHA:444463 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:605258 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy, Osteomyelitis, Salmonella osteomyelitis |
OMIM:615978 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent... |
ORPHA:277 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, In... |
OMIM:209950 |
Follicular Lymphoma |
|
Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleural effusion |
ORPHA:545 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulating antibody le... |
ORPHA:397596 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Genital edema, Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglo... |
ORPHA:98813 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Genital edema, Predominantly lower limb lymphedema, Recurrent skin infections, Edema of the dorsu... |
ORPHA:568051 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Bronchiectasis, Impaired Ig class switch recombination, Absence of lymph node germ... |
OMIM:608184 |
Immunodeficiency 109 With Lymphoproliferation |
|
Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Decreased circula... |
OMIM:620282 |
Immunodeficiency 52 |
|
Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy, Decreased circulating antibod... |
OMIM:617514 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased circulating IgA level, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Splenomeg... |
OMIM:618534 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Splenomegaly, Lymphadenopathy, Arthritis, Recurrent aphthous stomatitis |
OMIM:611762 |
Classic Mycosis Fungoides |
|
Skin rash, Eczema, Edema, Splenomegaly, Lymphadenopathy |
ORPHA:2584 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Kimura Disease |
|
Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Edema, Periorbital edema, Cheilitis, Lymphadenopathy |
ORPHA:2483 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepa... |
OMIM:613101 |
Immunodeficiency 105 |
|
Skin rash, Absence of lymph node germinal center, Decreased circulating antibody level, Hepatospl... |
OMIM:619924 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Ascites, Dysgammaglobulinemia, Lymphadenopathy |
ORPHA:100025 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Lymphadenop... |
OMIM:618261 |
Mycosis Fungoides |
|
Psoriasiform dermatitis, Eczema, Lymphadenopathy |
OMIM:254400 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Colitis, Lymphadenopathy |
OMIM:619164 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Generalized lymphadenopathy, Reduced natural killer cell activity, Follicular hyperplasia, Medias... |
OMIM:615559 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Bronchiectasis, Decreased circ... |
OMIM:616100 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Ascites, Lymphadenopathy |
ORPHA:26790 |
Cinca Syndrome |
|
Skin rash, Lymphedema, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis |
OMIM:607115 |
Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Hepatosplenomegaly, Decreased circu... |
OMIM:615122 |
Generalized Eruptive Histiocytosis |
|
Maculopapular exanthema, Lymphadenopathy |
ORPHA:157991 |
Indolent Systemic Mastocytosis |
|
Skin rash, Maculopapular exanthema, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ ... |
ORPHA:98848 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, R... |
OMIM:618935 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Pfapa Syndrome |
|
Splenomegaly, Arthritis, Infectious encephalitis, Lymphadenopathy |
ORPHA:42642 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Bronchiectasis, Ato... |
ORPHA:436159 |
Schnitzler Syndrome |
|
Skin rash, Splenomegaly, Lymphadenopathy, Arthritis, Increased circulating IgM level |
ORPHA:37748 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Myositis, Edema, Splenomegaly, Lymphadenopathy, Panniculitis |
OMIM:619183 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Lymphadenopathy, Chronic oral candidiasis |
OMIM:212050 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphocytic interstitial pneumonia, Splenomegaly, Lymphadenopathy, Increased circulating IgG leve... |
OMIM:618495 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Splenomegaly,... |
ORPHA:158061 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy, Recurrent aphthous stomatitis... |
OMIM:150550 |
Sézary Syndrome |
|
Edema, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma |
ORPHA:3162 |
American Trypanosomiasis |
|
Skin rash, Edema, Periorbital edema, Myocarditis, Splenomegaly, Lymphadenopathy, Infectious encep... |
ORPHA:3386 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Follicular hyperplasia, Lymphadenopathy, Decreased circulating... |
OMIM:619846 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Dysgammaglobulinemia, Impaired Ig class switch recombination, In... |
OMIM:308230 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Neutrophilic infiltration of the skin, Skin rash, Increased circulating IgA level, Periorbital ed... |
OMIM:618048 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic mucocutaneous c... |
ORPHA:911 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... |
ORPHA:70578 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Cervical lymphadenopathy, Decreased circulating IgG level |
OMIM:618987 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Acute Lung Injury |
|
Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Edema, Abnormal... |
ORPHA:178320 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Skin rash, Maculopapular exanthema, Reduced na... |
ORPHA:540 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Pneumonia, Erythema nodosum, Splenomegaly, Recur... |
OMIM:614700 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Lymphadenopathy |
ORPHA:158014 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Increased circulating antibody level, Lymphadenopathy |
ORPHA:100024 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Pericardial effusion, Splenomegaly, Angioedema, Uveitis, Lymphadenopathy... |
ORPHA:36412 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Perianal abscess, Peritonitis, Cervical lymphadenopathy, Re... |
ORPHA:2686 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Splenomegaly, Abnormal lymph node morphology, Recurrent skin infections, Hepatosplenomegaly |
OMIM:612840 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Myocarditis, Angioedema, Hepatitis, Thyroiditis, Lymphadenopathy, Tubulointer... |
ORPHA:139402 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Splenomegaly, Fulminant hepatitis, De... |
OMIM:308240 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Periorbital edema, Splenomegaly, Lymphadenopathy, Arthritis, Pann... |
OMIM:617591 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion, Bronchiectasis, Lymphadenopathy |
ORPHA:411703 |
Cutaneous Mastocytoma |
|
Peau d'orange, Angioedema, Maculopapular exanthema, Lymphadenopathy |
ORPHA:79455 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Skin rash, Maculopapular exanthema, Periorbital edema, Cervical lymphadenopathy, Oligoa... |
OMIM:142680 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating interleukin 6 concentration, Asplenia, Cervical lymphadenopathy, Lymphadeno... |
OMIM:614034 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Splenomegaly, Lymphadenopathy, Decreased circulating antibody level, Stomat... |
OMIM:613011 |
Roifman Syndrome |
|
Eczema, Recurrent pneumonia, Decreased circulating antibody level, Hepatosplenomegaly, Lymphadeno... |
ORPHA:353298 |
Boutonneuse Fever |
|
Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Lymphadenopathy, Increased circulat... |
ORPHA:83313 |
Griscelli Syndrome |
|
Splenomegaly, Hepatitis, Pedal edema, Lymphadenopathy, Decreased circulating antibody level, Bone... |
ORPHA:381 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphedema, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Chronic otitis media |
ORPHA:3226 |
Immunodeficiency 91 And Hyperinflammation |
|
Membranoproliferative glomerulonephritis, Maculopapular exanthema, Edema, Recurrent pneumonia, Ly... |
OMIM:619644 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Skin rash, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Glomerulonephritis, Thyroiditis, Lymphadenopathy |
OMIM:619375 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent skin infections, Eczema, Mediastinal lymphadenopathy, Splenomegaly, Enterocolitis, Decr... |
OMIM:619802 |
Adult-Onset Still Disease |
|
Pericarditis, Generalized lymphadenopathy, Skin rash, Myocarditis, Splenomegaly, Hepatitis, Arthr... |
ORPHA:829 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Generalized lymphadenopathy, Skin rash, Lymphedema |
ORPHA:33276 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Skin rash, Increased circulating IgA level, Lymphadenopathy, Increased circulating IgM level, Joi... |
OMIM:617099 |
Omenn Syndrome |
|
Pneumonia, Edema, Splenomegaly, Thyroiditis, Lymphadenopathy, Erythroderma |
ORPHA:39041 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Splenomegaly, Increased circulatin... |
OMIM:602450 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased circulating IgA level, Follicular hyperplasia, S... |
OMIM:603909 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis, Lymphadenopa... |
ORPHA:47612 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In... |
ORPHA:542323 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
Immunodeficiency 7 |
|
Recurrent otitis media, Splenomegaly, Lymphadenopathy, Chronic oral candidiasis |
OMIM:615387 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, D... |
ORPHA:331235 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Skin rash, Edema, Discoid lupus rash, Pericardial effusion, Lymphadenopathy, Arthritis,... |
ORPHA:93552 |
Mixed Connective Tissue Disease |
|
Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Mediastinal lymphadenopathy, Splenomeg... |
ORPHA:809 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Lymphadenopathy, Infectious encephalitis |
ORPHA:83317 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
Cinca Syndrome |
|
Edema, Splenomegaly, Retrobulbar optic neuritis, Uveitis, Lymphadenopathy, Inflammatory abnormali... |
ORPHA:1451 |
Pleural Mesothelioma |
|
Pleural effusion, Lymphadenopathy |
ORPHA:50251 |
Roifman Syndrome |
|
Eczema, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent otitis media |
OMIM:616651 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, Increased circulating IgE level, Decreased specific anti-polysac... |
OMIM:606367 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... |
ORPHA:39812 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Leishmaniasis |
|
Splenomegaly, Rhinitis, Increased circulating antibody level, Lymphadenopathy |
ORPHA:507 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Increased circulating IgE level, Hepatitis, Lymphadenopathy, Arthriti... |
OMIM:304790 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Splenomegaly, Lymphadenopathy, Recurrent aphthous stomatitis, Bone marrow hypocellularity, Chroni... |
OMIM:301078 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Diffuse Cutaneous Mastocytosis |
|
Peau d'orange, Abnormality of the spleen, Lymphadenopathy, Erythroderma |
ORPHA:79456 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Hyper-Igd Syndrome |
|
Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Lymp... |
OMIM:260920 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesitis, Arthritis, He... |
ORPHA:85408 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Recurrent pneumonia, Lymphadenopathy, Decreased circulating antibody level |
OMIM:619750 |
Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Partial absence of specific antibody response to Haemophilus influen... |
OMIM:618986 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Splenomega... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Splenomega... |
OMIM:233710 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Pustule, Facial edema, Cheilitis, Lymphadenopathy, ... |
ORPHA:293173 |
Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Pericardial effusion, Myocarditi... |
ORPHA:781 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level, Peritonitis, Lymphadenopathy, Arthritis, Recurrent aphthous stom... |
ORPHA:343 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Increased circulating IgE level, Hepatosplenomegaly, Lymphadenop... |
ORPHA:169154 |
Aggressive Systemic Mastocytosis |
|
Maculopapular exanthema, Hypersplenism, Lymphadenopathy, Hepatosplenomegaly, Ascites, Increased p... |
ORPHA:98850 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Increased circulating IgA level, Follicular hyperplasia, S... |
OMIM:601859 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Splenomega... |
OMIM:306400 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Splenomega... |
OMIM:233690 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Periorbital ed... |
ORPHA:32960 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormal lymph node morphology |
ORPHA:543 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Thyroid Lymphoma |
|
Hashimoto thyroiditis, Lymphadenopathy |
ORPHA:97285 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Bronchiectasis, Lymphadenopathy, Peripheral edema, Pleural effusion |
ORPHA:79126 |
Hemochromatosis, Type 1 |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
Legionnaires Disease |
|
Pericarditis, Myocarditis, Splenomegaly, Hepatitis, Endocarditis, Lymphadenopathy, Bone marrow hy... |
ORPHA:549 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Skin rash, Increased circulating IgA level, Pustule, Follicular hyperplasia, Paratrache... |
OMIM:615934 |
Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Glomerulonephritis, Lymphedema, Orchitis, Lymphadenitis, Kne... |
ORPHA:2035 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G... |
ORPHA:37042 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Skin rash, Edema, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, Lymphad... |
OMIM:603553 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Increased circulating antibody level, Follicular hyperplasia |
OMIM:614470 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Absence of lymph node germinal center, Chronic mucocutaneous candidiasis, Hepatosplenomegaly, Abn... |
ORPHA:79124 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... |
OMIM:616843 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
Autoimmune Lymphoproliferative Syndrome |
|
Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, Decreased circulating IgG lev... |
ORPHA:3261 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Absent peripheral lymph nodes in presence of infection, Recurrent otitis media, Cutane... |
OMIM:600802 |
Mevalonic Aciduria |
|
Skin rash, Edema, Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Morbilliform ras... |
OMIM:610377 |
Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Pedal edema, Lympha... |
ORPHA:342 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Skin rash, Rheumatoid arthritis, Lymphadenopathy |
ORPHA:100026 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Chronic otitis media, Splenomegaly, Pneumonia, Lymphadenopathy |
ORPHA:169090 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Lympha... |
ORPHA:83471 |
Castleman Disease |
|
Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Follicular hyperp... |
ORPHA:160 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Omenn Syndrome |
|
Pneumonia, Splenomegaly, Lymphadenopathy, Hypoplasia of the thymus, Erythroderma |
OMIM:603554 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Common Variable Immunodeficiency |
|
Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Lymphadenopathy, O... |
ORPHA:1572 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce... |
ORPHA:3243 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Erythema nodosum, Facial edema, Cervical lymphadenopathy, Cru... |
ORPHA:324625 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Decreased circulating ... |
OMIM:619381 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Facial edema, Periorbital edema, Increased circula... |
ORPHA:449432 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P... |
ORPHA:228123 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
Desmoplastic Small Round Cell Tumor |
|
Mediastinal lymphadenopathy, Ascites, Lymphadenopathy |
ORPHA:83469 |
Brucellosis |
|
Knee osteoarthritis, Increased circulating IgG level, Infectious encephalitis, Epididymitis, Lymp... |
ORPHA:1304 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Mediastinal lymphadenopathy, Pedal edema, Lymphadenopathy, Pleural effusion... |
ORPHA:199241 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Hennekam Syndrome |
|
Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Hydrops fetalis, Lymp... |
ORPHA:2136 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Skin rash, Palpebral edema, Pustule, Myocarditis, Cervical lymphaden... |
ORPHA:50918 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Lymphadenopathy, Inflammation of the la... |
OMIM:617718 |
Niemann-Pick Disease, Type A |
|
Splenomegaly, Ascites, Lymphadenopathy |
OMIM:257200 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... |
ORPHA:117 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Generalized edema, Infectious encephalitis, Lymphadenopathy |
OMIM:267700 |
Immunodeficiency 54 |
|
Splenomegaly, Lymphadenopathy |
OMIM:609981 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Lymphadenitis, Splenomegaly, Lymphadenopathy, Inflammation of the large intestine, Erythr... |
OMIM:615895 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Skin rash, Eczema, Erythema nodosum, Splenomegaly, Decreased circulating antibody level, Hepatosp... |
OMIM:615688 |
Poems Syndrome |
|
Edema, Pericardial effusion, Lymphadenopathy, Increased circulating antibody level, Pleural effus... |
ORPHA:2905 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Increased circulating IgG4 level, Lymphadenit... |
ORPHA:449395 |
Farber Disease |
|
Hydrops fetalis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, Joint swelling, Ascites |
ORPHA:333 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85450 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Immunodeficiency 55 |
|
Recurrent skin infections, Eczema, Lymphadenopathy |
OMIM:617827 |
Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Rhabdoid Tumor |
|
Lymphadenopathy |
ORPHA:69077 |
Waldenström Macroglobulinemia |
|
Periorbital edema, Splenomegaly, Pedal edema, Lymphadenopathy, Pleural effusion, Monoclonal immun... |
ORPHA:33226 |
Blau Syndrome |
|
Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Iridocyclitis, ... |
ORPHA:90340 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Fac... |
ORPHA:79078 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Skin rash, Pneumonia, Chilblains, Edema, Pericar... |
OMIM:615846 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Lymphadenopathy, Joint swelling, Recurrent sinusitis, Rheumatoid arthritis, Recurrent ... |
OMIM:607944 |
Immunodeficiency 31C |
|
Osteomyelitis, Eczema, Splenomegaly, Bronchiectasis, Chronic mucocutaneous candidiasis, Lymphaden... |
OMIM:614162 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Abnormal lymph node morphology |
ORPHA:54251 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:465508 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Posterior uveitis, Lymphadenopathy |
ORPHA:52417 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79477 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Palpebral edema, Cholangitis, Increased circulating IgG4 level, Keratitis, Orchitis, P... |
ORPHA:449563 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Edema, Myocarditis, Cervical lymphadenopathy, Hepatitis, Cheilitis, Arth... |
ORPHA:2331 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Gallbladder Neuroendocrine Tumor |
|
Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis |
ORPHA:100086 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Generalized lymphadenopathy, Pericardial effusion, Iridocycliti... |
OMIM:181000 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Pneumonia, Recurrent pneumonia, Arthritis, Decreased circulating tot... |
ORPHA:420741 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Skin rash, Edema, Pericardial effusion, Splenomegaly, Hepato... |
ORPHA:167 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Mediastinal lymphadenopathy, Bronchiectasis, Pleural effusion, Recurrent otitis media, Hilar lymp... |
OMIM:620233 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Immunodeficiency 10 |
|
Lymphadenopathy |
OMIM:612783 |
Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
H Syndrome |
|
Psoriasiform dermatitis, Bronchiectasis, Lymphadenopathy, Hepatosplenomegaly, Upper eyelid edema,... |
ORPHA:168569 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le... |
ORPHA:29073 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Generalized edema, Pneumonia, Edema, Myocardit... |
ORPHA:544482 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly |
OMIM:608836 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Generalized lymphadenopathy, Eczema, Cholangitis, Splenomeg... |
ORPHA:3260 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Arthritis, Malar rash, Serositis |
ORPHA:536 |
Primary Myelofibrosis |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:824 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki... |
OMIM:256040 |
Acute Promyelocytic Leukemia |
|
Stomatitis, Lymphadenopathy |
ORPHA:520 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Splenomegaly, Lym... |
OMIM:214500 |
Plague |
|
Chapped lip, Skin rash, Edema, Erythema nodosum, Lymphadenitis, Splenomegaly, Enterocolitis, Endo... |
ORPHA:707 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Lymphangioleiomyomatosis |
|
Lymphedema, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, Chylothorax, ... |
ORPHA:538 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Urinary bladde... |
ORPHA:556 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:1332 |
Carney Triad |
|
Mediastinal lymphadenopathy, Ascites, Lymphadenopathy |
ORPHA:139411 |
Crimean-Congo Hemorrhagic Fever |
|
Acute pancreatitis, Erythema nodosum, Myocarditis, Orchitis, Epididymitis, Splenomegaly, Pericard... |
ORPHA:99827 |
Fucosidosis |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
Sarcoidosis |
|
Maculopapular exanthema, Erythema nodosum, Bronchiectasis, Uveitis, Lymphadenopathy, Abnormal lym... |
ORPHA:797 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve... |
ORPHA:581 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Lig4 Syndrome |
|
Lymphadenopathy |
ORPHA:99812 |
Marburg Hemorrhagic Fever |
|
Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Uveitis, Lymphadenopathy, Dehydration... |
ORPHA:99826 |
Leptospirosis |
|
Pericarditis, Skin rash, Hepatitis, Uveitis, Lymphadenopathy, Optic neuritis, Pleural effusion |
ORPHA:509 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Abnormal mast cell morphology, Lymphadenopathy |
ORPHA:98849 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Chronic rhinitis, Otitis media, Lymphadenopathy |
ORPHA:667 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:365 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
Pancreatoblastoma |
|
Abnormal lymph node morphology |
ORPHA:677 |
Parenteral Nutrition-Associated Cholestasis |
|
Splenomegaly, Abnormality of cytokine secretion |
ORPHA:567983 |
Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Ileal Neuroendocrine Tumor |
|
Edema, Lymphadenopathy |
ORPHA:100078 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Splenomegaly, Polysplenia, Lymphadenopathy |
OMIM:619418 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Acne, Neoplasm of the thymus, Pedal edema, Recurrent cutaneous fungal infections, Abnormal lymph ... |
ORPHA:99889 |
Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
African Trypanosomiasis |
|
Pericarditis, Keratitis, Myocarditis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Optic ne... |
ORPHA:3385 |
Familial Pancreatic Carcinoma |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:1333 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot |
ORPHA:3472 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki... |
ORPHA:116 |
Williams Syndrome |
|
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:904 |
Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |