Cafe-Au-Lait Spots, Multiple |
|
Multiple cafe-au-lait spots |
OMIM:114030 |
Lentiginosis, Inherited Patterned |
|
Hypermelanotic macule |
OMIM:151001 |
Hairy Palms And Soles |
|
Hypermelanotic macule |
OMIM:139650 |
Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
Dowling-Degos Disease 1 |
|
Progressive reticulate hyperpigmentation |
OMIM:179850 |
Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
Nevus, Epidermal |
|
Melanocytic nevus |
OMIM:162900 |
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin |
OMIM:617409 |
Uv-Sensitive Syndrome 2 |
|
Freckling |
OMIM:614621 |
Dyschromatosis Universalis Hereditaria 1 |
|
Hyperpigmented/hypopigmented macules |
OMIM:127500 |
Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules |
OMIM:615674 |
Dyschromatosis Symmetrica Hereditaria |
|
Hyperpigmented/hypopigmented macules |
OMIM:127400 |
Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
Dyschromatosis Universalis Hereditaria |
|
Freckling, Spotty hypopigmentation, Hypopigmented skin patches, Hypermelanotic macule, Multiple c... |
ORPHA:241 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Tietz Syndrome |
|
White eyebrow, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Multiple lentigines, Vitiligo, Hypopigmented skin patches, Hypermelanotic macule, Cafe-au-lait sp... |
OMIM:145250 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation |
OMIM:300719 |
Dowling-Degos Disease 2 |
|
Reticular hyperpigmentation, Hypomelanotic macule |
OMIM:615327 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Red hair, Albinism |
OMIM:203290 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
OMIM:126070 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... |
OMIM:214450 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation |
ORPHA:315 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo |
OMIM:193200 |
Waardenburg Syndrome, Type 2F |
|
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... |
OMIM:619947 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Hyperpigmented streaks |
OMIM:614323 |
Ermine Phenotype |
|
Vitiligo, Spotty hyperpigmentation, Albinism, White hair, White eyelashes, White eyebrow |
OMIM:227010 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism |
OMIM:606952 |
Albinism-Deafness Syndrome |
|
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Partial albinism, Heterochro... |
ORPHA:998 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Glucocorticoid Deficiency 5 |
|
Hyperpigmentation of the skin |
OMIM:617825 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Autoimmune Disease, Susceptibility To, 1 |
|
Vitiligo |
OMIM:607836 |
Uv-Sensitive Syndrome 1 |
|
Freckling, Pigmentation anomalies of sun-exposed skin |
OMIM:600630 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:619126 |
Drug-Induced Localized Lipodystrophy |
|
Hyperpigmentation of the skin, Hypopigmentation of the skin |
ORPHA:90157 |
Uv-Sensitive Syndrome 3 |
|
Freckling |
OMIM:614640 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:608971 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:618852 |
Mast Cell Sarcoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:66661 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Albinism, Numerous pigmented freckles, White eyelashes, Partial albini... |
OMIM:193510 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Kimura Disease |
|
Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Freckling, Iris hypopigmentation, Generalized hypopigmentation of hair, White eyelas... |
ORPHA:79433 |
Piebald Trait |
|
Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr... |
OMIM:172800 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... |
OMIM:618052 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Glucocorticoid Deficiency 2 |
|
Hyperpigmentation of the skin |
OMIM:607398 |
Congenital Toxoplasmosis |
|
Lymphadenopathy, Cardiomegaly, Hepatomegaly |
ORPHA:858 |
Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:444463 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Immunodeficiency 32A |
|
Lymphadenopathy, Lymphadenitis |
OMIM:614893 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:614096 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Mu-Heavy Chain Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100024 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Alpha-Heavy Chain Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100025 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Lymphadenopathy, Splenomegaly |
OMIM:615513 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Cardiomegaly, Bacterial endocarditis |
ORPHA:615 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
Immunodeficiency, Common Variable, 2 |
|
Follicular hyperplasia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:240500 |
Immunodeficiency 76 |
|
Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Lymphadenopathy |
OMIM:619220 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal ventriculoarterial connection, Atrial septal defect... |
ORPHA:860 |
Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:603552 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:269920 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatosplenomegaly, Generalized lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Lymphadeno... |
OMIM:615559 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly |
OMIM:300853 |
Immunodeficiency 64 With Lymphoproliferation |
|
Hepatosplenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Mediastinal lymphadenopathy, Splen... |
OMIM:618534 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Pericarditis, Hepatomegaly, Splenomegaly |
ORPHA:85414 |
Porokeratosis |
|
Abnormality of skin pigmentation |
ORPHA:79358 |
Immunodeficiency 52 |
|
Lymphadenopathy, Splenomegaly |
OMIM:617514 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right ventri... |
ORPHA:555874 |
Fixed Subaortic Stenosis |
|
Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defe... |
ORPHA:3092 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly |
OMIM:613101 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatosplenomegaly, Abnormal lymph node morphology, Hepatomegaly, Splenomegaly |
OMIM:612840 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Ventricular hypertrophy, H... |
OMIM:300280 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:252920 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Cardiomegaly, Patent foramen ovale, Ventricular septal defect |
OMIM:618652 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:2584 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Splenomegaly |
OMIM:209950 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Neuraminidase Deficiency |
|
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:256550 |
Attrv122I Amyloidosis |
|
Left ventricular hypertrophy, Cardiac amyloidosis, Restrictive cardiomyopathy, Aortic valve steno... |
ORPHA:85451 |
Pleural Mesothelioma |
|
Lymphadenopathy, Hepatomegaly |
ORPHA:50251 |
Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
Mulibrey Nanism |
|
Myocardial fibrosis, Cardiomegaly, Hepatomegaly, Pericardial constriction |
OMIM:253250 |
Schnitzler Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:37748 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the spleen |
ORPHA:543 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular septal defe... |
OMIM:115197 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Follicular hyperplasia, Lymphadenopathy |
OMIM:619846 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy |
OMIM:614702 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Hepatomegaly, Lymphadenopathy, Splenomegaly |
OMIM:616651 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis |
OMIM:212140 |
Classic Hodgkin Lymphoma |
|
Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly |
ORPHA:391 |
Caspase 8 Deficiency |
|
Lymphadenopathy, Splenomegaly |
OMIM:607271 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular hypertrophy |
OMIM:619051 |
Cold Agglutinin Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:618495 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Splenomegaly |
OMIM:611762 |
Hemochromatosis, Type 1 |
|
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:235200 |
Indolent Systemic Mastocytosis |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98848 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Splenomegaly, Cardiomegaly, Mitral stenosis, Aortic val... |
OMIM:231005 |
Immunodeficiency 54 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:609981 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Bicuspid aortic valve, A... |
ORPHA:2041 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Lymphadenitis |
OMIM:618886 |
Immunodeficiency, Common Variable, 1 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:607594 |
American Trypanosomiasis |
|
Myocarditis, Cardiomyopathy, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:3386 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Abnormality of skin pigmentation |
OMIM:613988 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:619375 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy |
OMIM:618987 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Absence of lymph node germinal center |
OMIM:619924 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Follicular hyperplasia, Hepatomegaly, Splenomegaly |
OMIM:614470 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy |
OMIM:212050 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventricle |
OMIM:239850 |
Timothy Syndrome |
|
Cardiomegaly, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect |
OMIM:601005 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Heme Oxygenase 1 Deficiency |
|
Lymphadenopathy, Hepatomegaly, Cervical lymphadenopathy, Asplenia |
OMIM:614034 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic left heart, Enlarged kidney, Ventricular septal defect, Atrial septal defect, Atriove... |
OMIM:306955 |
Isolated Right Ventricular Hypoplasia |
|
Atrial septal defect, Right atrial enlargement, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Tularemia |
|
Mediastinal lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Lymphadenopathy, Cervica... |
ORPHA:3392 |
Immunodeficiency 7 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:615387 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Lymphadenopathy, Splenomegaly |
OMIM:150550 |
Lymphoproliferative Syndrome 2 |
|
Hepatosplenomegaly, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:615122 |
Roifman Syndrome |
|
Hepatosplenomegaly, Noncompaction cardiomyopathy, Lymphadenopathy |
ORPHA:353298 |
Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Perimembranous ventricular septal defect, Aortic val... |
ORPHA:1457 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Absent tonsils |
ORPHA:277 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy, Pericardial effusion |
ORPHA:411703 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mitral valve prolapse, Cardiomegaly, Aortic valve stenosis, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Griscelli Syndrome Type 2 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79477 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly |
ORPHA:99931 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly |
ORPHA:3226 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Lymphoproliferative Syndrome 1 |
|
Lymphadenopathy, Pericardial effusion, Hepatomegaly, Splenomegaly |
OMIM:613011 |
Desmoplastic Small Round Cell Tumor |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatomegaly |
ORPHA:83469 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Hepatomegaly, Splenomegaly |
OMIM:601859 |
Leishmaniasis |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:507 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Hepatomegaly |
ORPHA:42 |
Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly |
OMIM:255120 |
Adult-Onset Still Disease |
|
Myocarditis, Generalized lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Pericarditis... |
ORPHA:829 |
Scrub Typhus |
|
Myocarditis, Lymphadenopathy, Splenomegaly |
ORPHA:83317 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:619183 |
Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Hepatomegaly, Lymphadenopathy, Pericardial effusion, Splenomegaly |
ORPHA:36412 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Hepatosplenomegaly, Lymphadenopathy, Abnormal lymph node morphology, Lymphadenitis |
ORPHA:911 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Left ventricular hypertrophy |
OMIM:617713 |
Cinca Syndrome |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:607115 |
Sickle Cell Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, Splenic infarction |
OMIM:603903 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Cervical lymphadenopathy, Pulmonic stenosis, Atrial septal defect, Ventricula... |
OMIM:602782 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Lymphadenopathy, Spl... |
OMIM:603909 |
Sézary Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:3162 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:391428 |
Klatskin Tumor |
|
Lymphadenopathy, Hepatomegaly |
ORPHA:99978 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:308240 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hepatosplenomegaly, Recurrent tonsillitis, Lymphadenitis, Lymphadenopathy, Splenomegaly |
OMIM:618935 |
Griscelli Syndrome |
|
Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly |
ORPHA:381 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
Felty Syndrome |
|
Bone marrow hypocellularity, Hepatomegaly, Lymphadenopathy, Pericarditis, Splenomegaly |
ORPHA:47612 |
Niemann-Pick Disease, Type A |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:257200 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect |
OMIM:616897 |
Legionnaires Disease |
|
Myocarditis, Endocarditis, Bone marrow hypocellularity, Lymphadenopathy, Pericarditis, Splenomegaly |
ORPHA:549 |
Castleman Disease |
|
Generalized lymphadenopathy, Follicular hyperplasia, Restrictive cardiomyopathy, Lymphadenopathy,... |
ORPHA:160 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:619750 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Aplasia of the thymus, Lymph node hypo... |
OMIM:602450 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Abnormal lymph node morphology |
ORPHA:54251 |
Craniofaciofrontodigital Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart valve morphology, Bicuspid aortic... |
ORPHA:363705 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatosplenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:619644 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Cardiomegaly, Hypoplasia of the thymus, Ventricular septal defect |
OMIM:617022 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial enlargement, Ca... |
ORPHA:57777 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
Rhabdoid Tumor |
|
Lymphadenopathy |
ORPHA:69077 |
Complete Atrioventricular Septal Defect |
|
Abnormal cardiac atrium morphology, Hepatomegaly, Primum atrial septal defect, Complete atriovent... |
ORPHA:1329 |
Mixed Connective Tissue Disease |
|
Myocarditis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Pericarditis, Splenomegaly |
ORPHA:809 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Splenomegaly |
ORPHA:465508 |
Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial fibrosis, Ca... |
OMIM:300257 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Primary Myelofibrosis |
|
Hepatosplenomegaly, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:824 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:616100 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Sandhoff Disease |
|
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly |
OMIM:268800 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Cardiomyopathy, Hepatomegaly, Lymphadenitis, Lymphadenopathy, Dilated cardiomyopathy, Splenomegaly |
OMIM:615895 |
Immunodeficiency 10 |
|
Lymphadenopathy |
OMIM:612783 |
Diffuse Cutaneous Mastocytosis |
|
Lymphadenopathy, Hepatomegaly, Abnormality of the spleen |
ORPHA:79456 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly |
OMIM:301078 |
Mogs-Cdg |
|
Hepatosplenomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly, Cardiomegaly |
ORPHA:79330 |
Boutonneuse Fever |
|
Lymphadenopathy, Cervical lymphadenopathy |
ORPHA:83313 |
Omenn Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:39041 |
Gamma-Heavy Chain Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100026 |
Omenn Syndrome |
|
Hypoplasia of the thymus, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:603554 |
Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy |
OMIM:619802 |
Cinca Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:1451 |
Q Fever |
|
Myocarditis, Hepatosplenomegaly, Endocarditis, Hepatomegaly, Abnormal heart valve morphology, Lym... |
ORPHA:781 |
Papa Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:169090 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatosplenomegaly, Lymphadenopathy, Abnormal lymph node morphology, Hepatomegaly |
ORPHA:85450 |
Neuroendocrine Tumor Of The Colon |
|
Chronic noninfectious lymphadenopathy, Hepatomegaly, Abnormal pulmonary valve cusp morphology |
ORPHA:100080 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Abnormal h... |
OMIM:601214 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Hypersplenism, Lymphadenopathy |
ORPHA:98850 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:608013 |
Cyclic Neutropenia |
|
Recurrent tonsillitis, Lymphadenopathy, Cervical lymphadenopathy |
ORPHA:2686 |
Fucosidosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:349 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy |
OMIM:618048 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Atrial septal defect, Ventricular septal defect, Bicuspid aortic v... |
OMIM:620066 |
Acute Interstitial Pneumonia |
|
Lymphadenopathy, Pericardial effusion |
ORPHA:79126 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Increased myocardial glycogen content, Cardiomyopathy, Biventricular hypertrophy... |
OMIM:261740 |
Truncus Arteriosus |
|
Hypoplasia of the thymus, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricul... |
ORPHA:3384 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Pericardial effusion |
ORPHA:199241 |
Cantú Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy |
ORPHA:1517 |
Macrophage Activation Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:158061 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Lymphadenopathy, Hepatomegaly |
ORPHA:343 |
Fucosidosis |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:230000 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney |
OMIM:608836 |
Tangier Disease |
|
Hepatosplenomegaly, Orange discolored tonsils, Left ventricular hypertrophy, Coronary artery sten... |
ORPHA:31150 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormality of the thymus, Cardiomegaly |
ORPHA:2463 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:308552 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Splenomegaly, Absence of lymph node germinal center, Enlarged tonsils |
OMIM:308230 |
Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect |
OMIM:614921 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
Neuroendocrine Tumor Of The Rectum |
|
Chronic noninfectious lymphadenopathy, Hepatomegaly, Abnormal pulmonary valve cusp morphology |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Chronic noninfectious lymphadenopathy, Hepatomegaly, Abnormal pulmonary valve cusp morphology |
ORPHA:100082 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Hepatosplenomegaly, Lymphadenopathy |
ORPHA:169154 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Left ventricular hypertrophy, Atrial septal defect, Bicuspid aortic valve, Patent foramen ovale, ... |
OMIM:245600 |
Lig4 Syndrome |
|
Lymphadenopathy, Hepatomegaly |
ORPHA:99812 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
Mevalonic Aciduria |
|
Hepatosplenomegaly, Fluctuating hepatomegaly, Lymphadenopathy, Fluctuating splenomegaly |
OMIM:610377 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hepatosplenomegaly, Lymphadenopathy, Enlarged tonsils |
OMIM:606367 |
Glycogen Storage Disease Ii |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:232300 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:1332 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:540 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Hilar lymph node enlargement, Right atrial enlargement, Mediastinal lymphadenopathy... |
OMIM:620233 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Lymphadenopathy |
ORPHA:139402 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Lymphadenitis |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Lymphadenitis |
OMIM:233710 |
Kikuchi-Fujimoto Disease |
|
Myocarditis, Generalized lymphadenopathy, Cervical lymphadenopathy, Hepatomegaly, Abnormal lymph ... |
ORPHA:50918 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:603553 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphadenopathy, Pericardial effusion |
ORPHA:93552 |
Mucopolysaccharidosis Type 3 |
|
Recurrent tonsillitis, Abnormal mitral valve morphology, Hepatomegaly, Abnormal myocardium morpho... |
ORPHA:581 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:267700 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Cardiomyopathy, Cardiomegaly, Hepatomegaly |
ORPHA:228308 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Generalized lymphadenopathy, Lymphadenopathy, Splenomegaly |
OMIM:614700 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Lymphadenitis |
OMIM:233690 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:617591 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Absence Of The Pulmonary Artery |
|
Tetralogy of Fallot, Atrial septal defect, Abnormal cardiac septum morphology, Abnormal heart mor... |
ORPHA:980 |
Congenital Tracheomalacia |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Abnormal hear... |
ORPHA:95430 |
Poems Syndrome |
|
Lymphadenopathy, Visceromegaly, Pericardial effusion |
ORPHA:2905 |
Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Hepatomegaly |
OMIM:618143 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Ventricular septal defect, Hepatomegaly, Polysplenia, Lymphadenopathy, Accessory spleen, Splenome... |
OMIM:619418 |
Hyper-Igd Syndrome |
|
Hepatosplenomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly |
OMIM:260920 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... |
ORPHA:1677 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Lymphadenopathy |
OMIM:304790 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Ventricular hypertrophy |
OMIM:618278 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatosplenomegaly, Hepatomegaly, Absence of lymph node germinal center |
ORPHA:79124 |
Pancreatoblastoma |
|
Abnormal lymph node morphology |
ORPHA:677 |
Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Splenomegaly |
OMIM:252500 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Lymphadenopathy, Pericarditis, Abnormal myocardium morphology, Splenomegaly |
ORPHA:32960 |
Graft Versus Host Disease |
|
Hepatosplenomegaly, Lymphadenopathy |
ORPHA:39812 |
Waldenström Macroglobulinemia |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:33226 |
Farber Disease |
|
Hepatosplenomegaly, Lymphadenopathy |
ORPHA:333 |
Chediak-Higashi Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:214500 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatosplenomegaly, Bone marrow hypocellularity, Hepatomegaly, Lymphadenopathy, Dilated cardiomyo... |
OMIM:615688 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98849 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Atrial s... |
ORPHA:99125 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventricular septal defect, L... |
OMIM:300967 |
Acute Promyelocytic Leukemia |
|
Lymphadenopathy |
ORPHA:520 |
Hennekam Syndrome |
|
Lymphadenopathy, Pericardial effusion, Pulmonary lymphangiectasia, Splenomegaly, Lymphangioma |
ORPHA:2136 |
H Syndrome |
|
Hepatosplenomegaly, Lymphadenopathy, Enlarged kidney |
ORPHA:168569 |
Granulomatous Disease, Chronic, X-Linked |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Lymphadenitis |
OMIM:306400 |
Ileal Neuroendocrine Tumor |
|
Lymphadenopathy, Pulmonic stenosis, Tricuspid stenosis |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Lymphadenopathy, Pulmonic stenosis, Tricuspid stenosis |
ORPHA:100077 |
Lymphangioleiomyomatosis |
|
Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy, Chyloperica... |
ORPHA:538 |
Lymphatic Filariasis |
|
Lymphadenopathy, Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis |
ORPHA:2035 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy |
OMIM:617099 |
Ogden Syndrome |
|
Secundum atrial septal defect, Enlarged kidney, Ventricular septal defect, Atrial septal defect, ... |
OMIM:300855 |
Familial Pancreatic Carcinoma |
|
Hepatosplenomegaly, Lymphadenopathy |
ORPHA:1333 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Right ventricular cardiomyopathy, Coronary artery stenosis, Hepatomegaly... |
ORPHA:75565 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Cardiomegaly, Hepatomegaly, Ventricular septal defect |
ORPHA:96191 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Hepatosplenomegaly, Cervical lymphadenopathy, Bone marrow hypocellularity, Lymphaden... |
ORPHA:2442 |
Chédiak-Higashi Syndrome |
|
Hepatosplenomegaly, Lymphadenopathy, Pericardial effusion, Splenomegaly |
ORPHA:167 |
Carney Triad |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:139411 |
Brucellosis |
|
Myocarditis, Endocarditis, Hepatomegaly, Hypersplenism, Lymphadenopathy, Abnormal aortic valve mo... |
ORPHA:1304 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Histiocytoid Cardiomyopathy |
|
Cardiomegaly, Hepatomegaly, Ventricular septal defect |
ORPHA:137675 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:365 |
Autoimmune Lymphoproliferative Syndrome |
|
Bone marrow hypocellularity, Hepatomegaly, Chronic noninfectious lymphadenopathy, Hypersplenism, ... |
ORPHA:3261 |
Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
Abetalipoproteinemia |
|
Cardiomegaly, Hepatomegaly |
ORPHA:14 |
Autosomal Recessive Malignant Osteopetrosis |
|
Lymphadenopathy, Abnormal pulmonary valve morphology, Hepatomegaly, Splenomegaly |
ORPHA:667 |
Common Variable Immunodeficiency |
|
Lymphadenopathy, Splenomegaly |
ORPHA:1572 |
Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia |
OMIM:130650 |
Immunodeficiency 31C |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:614162 |
Familial Mediterranean Fever |
|
Lymphadenopathy, Pericarditis, Splenomegaly |
ORPHA:342 |
Coccidioidomycosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Abnormality of the spleen |
ORPHA:228123 |
Duodenal Neuroendocrine Tumor |
|
Lymphadenopathy, Pulmonic stenosis, Tricuspid stenosis |
ORPHA:100076 |
Behçet Disease |
|
Endocarditis, Lymphadenopathy, Abnormal myocardium morphology, Pericarditis, Splenomegaly |
ORPHA:117 |
Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:51 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphadenopathy, Aplasia of the thymus |
ORPHA:83471 |
Multiple Myeloma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:29073 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:37042 |
Selective Igm Deficiency |
|
Lymphadenopathy, Lymphadenitis |
ORPHA:331235 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Lymphadenopathy, Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:256040 |
Kawasaki Disease |
|
Myocarditis, Cervical lymphadenopathy, Double outlet right ventricle with subpulmonary ventricula... |
ORPHA:2331 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphadenopathy, Cervical lymphadenopathy |
OMIM:617718 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphadenopathy |
OMIM:607944 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hepatosplenomegaly, Lymphadenopathy |
ORPHA:85408 |
Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
Liver Disease, Severe Congenital |
|
Left atrial enlargement, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Subvalvul... |
OMIM:619991 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Visceromegaly, Splenome... |
ORPHA:116 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Cardiomyopathy, Cardiomegaly |
ORPHA:3472 |
Williams Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Cardiome... |
ORPHA:904 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Hepatomegaly, Lymphadenopathy, Pericardial effusion, Splenomegaly |
ORPHA:99827 |
Chikungunya |
|
Lymphadenopathy, Cervical lymphadenopathy |
ORPHA:324625 |
Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
Sarcoidosis |
|
Lymphadenopathy, Abnormal lymph node morphology, Hepatomegaly |
ORPHA:797 |
Igg4-Related Kidney Disease |
|
Lymphadenopathy, Lymphadenitis, Pericarditis, Enlarged kidney |
ORPHA:449395 |
Immunodeficiency 82 With Systemic Inflammation |
|
Follicular hyperplasia, Lymphadenopathy, Splenomegaly |
OMIM:619381 |
Marburg Hemorrhagic Fever |
|
Lymphadenopathy, Pericarditis |
ORPHA:99826 |
African Trypanosomiasis |
|
Myocarditis, Hepatosplenomegaly, Hepatomegaly, Lymphadenopathy, Pericarditis, Splenomegaly |
ORPHA:3385 |
Blau Syndrome |
|
Lymphadenopathy, Pericarditis, Splenomegaly |
ORPHA:90340 |
Leptospirosis |
|
Lymphadenopathy, Pericarditis, Hepatomegaly |
ORPHA:509 |
Igg4-Related Submandibular Gland Disease |
|
Lymphadenopathy |
ORPHA:449432 |
Singleton-Merten Syndrome 1 |
|
Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve stenosis, Cardiomegaly, Aor... |
OMIM:182250 |
Generalized Arterial Calcification Of Infancy |
|
Cardiomegaly, Pericardial effusion, Myocardial calcification, Ventricular hypertrophy |
ORPHA:51608 |
Primary Sjögren Syndrome |
|
Lymphadenopathy |
ORPHA:289390 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Lymphadenopathy |
ORPHA:79078 |
Igg4-Related Ophthalmic Disease |
|
Lymphadenopathy |
ORPHA:449563 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Neoplasm of the thymus |
ORPHA:99889 |