Eosinophilia, Familial |
|
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly, Myeloproliferative disorder, Eosi... |
OMIM:607685 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Abnormal morphology of the chordae tendinae of the mitral valve, Left... |
ORPHA:75566 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity |
OMIM:614493 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Histiocytosis, Leukemia |
ORPHA:157991 |
Halothane Hepatitis |
|
Eosinophilia |
OMIM:234350 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Decreased circulating IgE,... |
OMIM:300400 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Hepatomegaly, Eosinophilia, Impaired oxidative burst, Thromb... |
OMIM:226990 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased... |
OMIM:601859 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Neutropenia, Splenomegaly |
OMIM:615387 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphoma, Burkitt lymphoma, Reduced natural killer cell activity, Decreased circulating antibody ... |
OMIM:308240 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity |
OMIM:608898 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Reduced natural killer cell act... |
OMIM:619281 |
Roifman Syndrome |
|
Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:616651 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Cinca Syndrome |
|
Leukocytosis, Anemia, Eosinophilia, Hepatosplenomegaly |
OMIM:607115 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:603909 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Abnormal natural killer cell physiology, Decreased circulating antibody level |
OMIM:613101 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Eosinophilia |
OMIM:618092 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Sterile abscess, Cutaneous abscess, Atrial septal defect, Eosinophilia, Pulmonic stenosis |
OMIM:618282 |
Immunodeficiency 20 |
|
Reduced natural killer cell activity |
OMIM:615707 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hepatomegaly, Eosi... |
OMIM:603554 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Cutaneous abscess, Eosinophilia |
OMIM:147060 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eosinophilia |
OMIM:618523 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... |
ORPHA:486 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Immunodeficiency 81 |
|
Impaired neutrophil chemotaxis, Impaired collagen-induced platelet aggregation, Reduced antigen-s... |
OMIM:619374 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Lymphoproliferative disorder, Absent isohemagglutinin level... |
OMIM:615559 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal natural killer cell count, Decreased proportion of CD3-positive T cells, Abnormal B cell... |
ORPHA:331206 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Omenn Syndrome |
|
Anemia, Leukocytosis, Hepatomegaly, Eosinophilia, Splenomegaly, Abnormal lymphocyte morphology |
ORPHA:39041 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly |
ORPHA:169160 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Reduced natural killer cell activity, Increased circulating IgA l... |
OMIM:300291 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia |
OMIM:610163 |
Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Aplasia of ... |
OMIM:602450 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop... |
OMIM:304790 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Anemia, Eosinophilia |
ORPHA:2070 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos... |
ORPHA:911 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly |
OMIM:617388 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Eosinophilia, Decreased proportion of CD4-positive helper T cells |
OMIM:243700 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy |
OMIM:617713 |
Cystic Echinococcosis |
|
Peritoneal abscess, Splenic cyst, Abnormal heart morphology, Hepatomegaly, Eosinophilia, Abscess |
ORPHA:400 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Hereditary Folate Malabsorption |
|
Thrombocytopenia, Megaloblastic anemia, Pancytopenia, Eosinophilia |
ORPHA:90045 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:540 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Endocarditis, Abnormal pericardium morphology, Hypertrophic cardiomyopathy, Eosinophilia, Myocard... |
ORPHA:183 |
Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... |
ORPHA:443811 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
ORPHA:858 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Myocarditis, Eosinophilia |
ORPHA:139402 |
Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma |
ORPHA:615 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... |
OMIM:102700 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Aspergillosis |
|
Neutropenia, Eosinophilia |
ORPHA:1163 |
Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Cardiac amyloidosis, Hypertroph... |
ORPHA:85451 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell activity |
OMIM:616050 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... |
ORPHA:860 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly |
OMIM:269920 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia |
OMIM:618838 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Eosinophilia, Neutropenia, Abscess |
OMIM:615816 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Decreased proportion of CD4-positive helper T cells, Abnormal proportion ... |
ORPHA:3261 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
Neuraminidase Deficiency |
|
Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Splenomegaly, Cardiom... |
OMIM:256550 |
Mucoepithelial Dysplasia, Hereditary |
|
Cor pulmonale, Eosinophilia |
OMIM:158310 |
Timothy Syndrome |
|
Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect |
OMIM:601005 |
Igg4-Related Aortitis |
|
Hypereosinophilia |
ORPHA:449400 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... |
ORPHA:3092 |
Alveolar Echinococcosis |
|
Abnormal pericardium morphology, Anemia, Liver abscess, Abnormal spleen morphology, Cutaneous abs... |
ORPHA:284 |
Iga Pemphigus |
|
Cutaneous abscess, Eosinophilia |
ORPHA:555905 |
Scleroderma |
|
Pericarditis, Interstitial cardiac fibrosis, Myocarditis, Hypereosinophilia |
ORPHA:801 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal defect |
OMIM:618652 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, T lymphocytopenia, Mitral valve prolapse, Decreased proportion of CD8-positive... |
ORPHA:508533 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia |
ORPHA:2314 |
Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Neutrophilia, Dilated cardiomyopathy, Hepatosplenomegaly, Myocardial eosinophilic infiltr... |
ORPHA:3260 |
Mulibrey Nanism |
|
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis |
OMIM:253250 |
Cyclic Neutropenia |
|
Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... |
ORPHA:2686 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... |
OMIM:115197 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Congenital thrombocytopenia, Anemia, Leukocytosis |
OMIM:618886 |
Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:252920 |
Sickle Cell Disease |
|
Hemolytic anemia, Target cells, Splenic infarction, Increased red cell sickling tendency, Hepatom... |
OMIM:603903 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati... |
OMIM:231005 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:212140 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:619051 |
Thrombocytopenia-Absent Radius Syndrome |
|
Atrioventricular canal defect, Anemia, Ventricular septal defect, Atrial septal defect, Hepatospl... |
OMIM:274000 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
Coronary Arterial Fistula |
|
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... |
ORPHA:2041 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Eosinophilia |
ORPHA:199299 |
Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... |
ORPHA:75565 |
Hemochromatosis, Type 1 |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy |
OMIM:235200 |
Aorta Coarctation |
|
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... |
ORPHA:1457 |
Cantu Syndrome |
|
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve |
OMIM:239850 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... |
ORPHA:439 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Decreased eosinophil count |
OMIM:619632 |
Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
Wiskott-Aldrich Syndrome |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Abnormal delayed hypersens... |
OMIM:301000 |
Coccidioidomycosis |
|
Granuloma, Pericarditis, Eosinophilia, Abnormality of the spleen, Abscess |
ORPHA:228123 |
Incontinentia Pigmenti |
|
Leukocytosis, Eosinophilia |
OMIM:308300 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve pro... |
ORPHA:324410 |
Incontinentia Pigmenti |
|
Eosinophilia |
ORPHA:464 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Hepatomegaly, Right atrial ... |
OMIM:306955 |
Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Reduced natural killer cell activity |
OMIM:603553 |
Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly |
OMIM:255120 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Hepatomegaly |
ORPHA:42 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
Hermansky-Pudlak Syndrome 2 |
|
Impaired ADP-induced platelet aggregation, Reduced natural killer cell activity |
OMIM:608233 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hepatomegaly |
OMIM:201475 |
Igg4-Related Pachymeningitis |
|
Eosinophilia |
ORPHA:449427 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect |
OMIM:616897 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, P... |
OMIM:618278 |
Craniofaciofrontodigital Syndrome |
|
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Aor... |
ORPHA:363705 |
Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... |
ORPHA:1329 |
Danon Disease |
|
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Ca... |
OMIM:300257 |
Cirrhotic Cardiomyopathy |
|
Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiomegaly, Right atrial e... |
ORPHA:57777 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
Lymphatic Filariasis |
|
Hypereosinophilia |
ORPHA:2035 |
Mogs-Cdg |
|
Left ventricular hypertrophy, Atrial septal defect, Hepatosplenomegaly, Hepatomegaly, Cardiomegal... |
ORPHA:79330 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy |
ORPHA:465508 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia |
ORPHA:449432 |
Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Hypoplasia of the thymus, Ventricular septal defect |
OMIM:617022 |
Gaucher Disease, Perinatal Lethal |
|
Anemia, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly |
OMIM:608013 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Sandhoff Disease |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:268800 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
Sarcoidosis |
|
Leukopenia, Anemia, Hemolytic anemia, Increased T cell count, Hepatomegaly, Eosinophilia, Thrombo... |
ORPHA:797 |
Igg4-Related Kidney Disease |
|
Pericarditis, Enlarged kidney, Eosinophilia |
ORPHA:449395 |
Fucosidosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:349 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse, Atrial septal defect, Hepato... |
OMIM:602782 |
Fucosidosis |
|
Cardiomegaly, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly |
OMIM:230000 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In... |
OMIM:261740 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
Viss Syndrome |
|
Hypereosinophilia, Patent foramen ovale, Double outlet right ventricle, Coronary sinus enlargemen... |
OMIM:619472 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly |
ORPHA:308552 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia |
ORPHA:449563 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:608836 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... |
OMIM:245600 |
Truncus Arteriosus |
|
Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre... |
ORPHA:3384 |
Wiskott-Aldrich Syndrome |
|
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lymphopenia, ... |
ORPHA:906 |
Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Ventricular septal defect, Hepatomegaly, Dilated cardiomyopathy |
OMIM:614921 |
Lethal Acantholytic Erosive Disorder |
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Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Cardiomegaly, Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy |
ORPHA:228308 |
Absence Of The Pulmonary Artery |
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Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... |
ORPHA:980 |
Congenital Tracheomalacia |
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Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... |
ORPHA:95430 |
Glycogen Storage Disease Ii |
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Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:232300 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Atrial septal dilatation, Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular... |
ORPHA:1677 |
Developmental And Epileptic Encephalopathy 95 |
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Cardiomegaly, Hepatomegaly |
OMIM:618143 |
Mucopolysaccharidosis Type 3 |
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Abnormal mitral valve morphology, Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, S... |
ORPHA:581 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Cardiomegaly |
ORPHA:2463 |
Abetalipoproteinemia |
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Anemia, Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocytosis |
ORPHA:14 |
Primary Sclerosing Cholangitis |
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Abnormal eosinophil morphology, Hepatosplenomegaly, Hepatomegaly, Histiocytosis, Splenomegaly |
ORPHA:171 |
Mucolipidosis Ii Alpha/Beta |
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Enlarged kidney, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252500 |
Congenital Total Pulmonary Venous Return Anomaly |
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Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... |
ORPHA:99125 |
Ogden Syndrome |
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Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septal defect, Bicusp... |
OMIM:300855 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... |
OMIM:300967 |
Cushing Disease |
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Leukocytosis, Decreased eosinophil count, Lymphopenia |
ORPHA:96253 |
Dermatomyositis |
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Pericarditis, Myocarditis, Abnormal eosinophil morphology |
ORPHA:221 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Cardiomegaly, Ventricular septal defect, Hepatomegaly |
ORPHA:96191 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
Histiocytoid Cardiomyopathy |
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Cardiomegaly, Ventricular septal defect, Hepatomegaly |
ORPHA:137675 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly |
ORPHA:365 |
Aicardi-Goutières Syndrome |
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Chronic lymphatic leukemia, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Neonatal alloimmune ... |
ORPHA:51 |
Bohring-Opitz Syndrome |
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Cardiomegaly, Abnormal cardiac septum morphology |
ORPHA:97297 |
Beckwith-Wiedemann Syndrome |
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Pancreatic hyperplasia, Enlarged kidney, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:130650 |
Liver Disease, Severe Congenital |
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Subvalvular aortic stenosis, Patent foramen ovale, Anemia, Dilatation of the ventricular cavity, ... |
OMIM:619991 |
Beckwith-Wiedemann Syndrome |
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Enlarged kidney, Polycythemia, Hypertrophic cardiomyopathy, Visceromegaly, Hepatomegaly, Cardiome... |
ORPHA:116 |
Infection-Related Hemolytic Uremic Syndrome |
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Abnormality of interferon secretion, Increased circulating interleukin 6 concentration, Abnormali... |
ORPHA:544482 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Microcytic anemia |
OMIM:256040 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Leukocytosis, Decreased eosinophil count, Lymphopenia |
ORPHA:99889 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Atrial septal defect, Cardiomegaly, Tetralogy of Fallot, Cardiomyopathy |
ORPHA:3472 |
Williams Syndrome |
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Ventricular septal defect, Abnormal cardiac septum morphology, Bicuspid aortic valve, Mitral valv... |
ORPHA:904 |
Singleton-Merten Syndrome 1 |
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Subvalvular aortic stenosis, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Mit... |
OMIM:182250 |
Generalized Arterial Calcification Of Infancy |
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Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |