| Cervical Vertebral Bridge |
|
Abnormality of the vertebral column |
OMIM:118000 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis |
OMIM:114065 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
| Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... |
OMIM:615513 |
| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
| Singleton-Merten Syndrome 2 |
|
Aortic valve calcification, Aortic valve stenosis, Arrhythmia |
OMIM:616298 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
| Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... |
ORPHA:402075 |
| Primary Basilar Invagination |
|
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
| Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia,... |
ORPHA:169079 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Intrauterine growth retardation, Anemia |
ORPHA:2802 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
| Gaucher Disease, Type Iiic |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Calcification of the aorta,... |
OMIM:231005 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
| Spondylocamptodactyly Syndrome |
|
Platyspondyly, Scoliosis |
ORPHA:3180 |
| Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
| Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
| Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Coronary artery calcification, Myoca... |
ORPHA:56 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... |
OMIM:618987 |
| Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement |
OMIM:615377 |
| Spondylosis, Cervical |
|
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis |
OMIM:184300 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:612158 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Growth delay, T lymphocytopenia, Decreased circulating total IgM... |
OMIM:619510 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
| Alkaptonuria |
|
Aortic valve calcification, Mitral valve calcification, Coronary artery calcification, Arthritis |
OMIM:203500 |
| Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:351 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
| Aortic Valve Disease 3 |
|
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:618496 |
| Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... |
OMIM:615779 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... |
ORPHA:277 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
| Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615373 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart |
OMIM:241550 |
| Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia |
OMIM:601457 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... |
OMIM:618459 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... |
OMIM:212050 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte ... |
OMIM:618986 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
| Lymphoid Interstitial Pneumonia |
|
Aortic valve stenosis, Cor pulmonale, Lymphocytic interstitial pneumonia |
OMIM:247610 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Short stature, Abnormal hemoglobin, Anemia, Abnormal cardiac septum morphology, Thrombocytopenia |
ORPHA:3319 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to Haemophilus inf... |
OMIM:301082 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... |
OMIM:609813 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Gaucher Disease Type 3 |
|
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... |
ORPHA:77261 |
| Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Thrombocytopenia, Anemia |
ORPHA:295 |
| Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
| Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebrae |
ORPHA:2064 |
| Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:3092 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Bone marrow hypoc... |
OMIM:615190 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... |
ORPHA:2041 |
| Partial Atrioventricular Septal Defect |
|
Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio... |
ORPHA:1330 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... |
OMIM:601859 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Short stature, Postnatal growth retardation, Splenomegaly, Leuko... |
OMIM:620210 |
| Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly |
ORPHA:1296 |
| Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis, Anemia |
OMIM:617408 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Short stature, Splenomegaly, Chronic lymphatic leukemia, Growth ... |
OMIM:616005 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve |
ORPHA:228190 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Anemia |
OMIM:611283 |
| Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
| Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Aortic regurgitation, Mitral valve calcification, Mitral stenosis, Angin... |
ORPHA:740 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
| Gaucher Disease |
|
Mitral valve calcification, Osteomyelitis, Abnormal heart valve morphology, Abnormal pericardium ... |
ORPHA:355 |
| Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... |
OMIM:607594 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
| Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Mitral regurgitation, Pu... |
OMIM:614823 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Short stature, Anisocytosis, Anemia of inadequate production, Splenomegaly, Grow... |
OMIM:615631 |
| Eales Disease |
|
Optic disc pallor, Peripheral retinal neovascularization, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
| Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation, Bone marrow hypocellularity |
OMIM:609054 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic valve calcification, Calcifi... |
ORPHA:2072 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
| Immunodeficiency 40 |
|
Eosinophilic granuloma, Growth delay, T lymphocytopenia, Reduced antigen-specific T cell prolifer... |
OMIM:616433 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve |
OMIM:604381 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Short stature, T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell co... |
OMIM:242860 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
| Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis |
ORPHA:2724 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Growth delay, Decreased circulating total IgM, Defec... |
OMIM:619774 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
| Immunodeficiency 54 |
|
Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Adrenocorticotropic h... |
OMIM:609981 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology, Intrauterine growt... |
OMIM:615966 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... |
OMIM:615925 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased c... |
OMIM:613011 |
| Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
| Atypical Werner Syndrome |
|
Telangiectasia of the skin, Aortic valve calcification, Congestive heart failure, Mitral valve pr... |
ORPHA:79474 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Bicuspid aortic valve, Recurrent skin infections |
OMIM:617744 |
| Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Short stature, Abnor... |
ORPHA:443811 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis |
OMIM:602248 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Arthritis, Pericarditis, Malar rash |
OMIM:609939 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Decreased proportion of naive T cells, Abnormal imm... |
ORPHA:276 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Growth delay, Increased circulating IgG level, Dec... |
OMIM:243700 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... |
OMIM:182250 |
| Rheumatic Fever |
|
Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Endocarditis, A... |
ORPHA:3099 |
| Verheij Syndrome |
|
Branchial cyst, Optic nerve hypoplasia, Short neck, Intrauterine growth retardation, Truncus arte... |
OMIM:615583 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Hypoplastic left heart, Bicuspid aortic valve |
OMIM:618845 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
| Sneddon Syndrome |
|
Hypertension, Cerebral hemorrhage, Bicuspid aortic valve, Ischemic stroke |
OMIM:182410 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Constrictive pericarditis, Arthritis |
OMIM:208250 |
| Stiff Skin Syndrome |
|
Bicuspid aortic valve |
OMIM:184900 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro... |
OMIM:617827 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
| Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
| Burkitt Lymphoma |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... |
ORPHA:543 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:616501 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
| Immunodeficiency 22 |
|
Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion... |
OMIM:615758 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Arthritis, Bicuspid aortic valve |
OMIM:619825 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Short stature, Decreased circulating IgG2 level, Acute lymphobla... |
OMIM:208900 |
| Yao Syndrome |
|
Ventricular hypertrophy, Pericarditis, Inflammatory abnormality of the skin, Skin rash, Arthritis... |
OMIM:617321 |
| Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,... |
ORPHA:79124 |
| Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve |
OMIM:618955 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
| Agammaglobulinemia, X-Linked |
|
Agammaglobulinemia, T lymphocytopenia, Decreased circulating total IgM, Lymph node hypoplasia, B ... |
OMIM:300755 |
| Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia |
OMIM:618313 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
| Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Abnormal heart morphology, Palpitations, Atrial septal defect, Mitral sten... |
ORPHA:2847 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Exaggerated startle response, Scoliosis |
OMIM:609541 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Increased inflammatory response, Pericarditis, Knee osteoarthritis, Mitral valve prolapse, Mitral... |
ORPHA:2848 |
| Immune-Mediated Necrotizing Myopathy |
|
Myositis, Skin rash, Raynaud phenomenon, Myocarditis, Congestive heart failure, Palpitations |
ORPHA:206569 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Lumbar hyperlordosis |
ORPHA:3198 |
| Lessel-Kreienkamp Syndrome |
|
Atrial septal defect, Patent foramen ovale, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:619149 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Anemia, Cardiomegaly |
OMIM:618838 |
| Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymphadenitis, P... |
ORPHA:31205 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Juvenile rheumatoid arthritis, Anterior uveitis, Pericarditis, Skin rash |
ORPHA:85414 |
| Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve |
OMIM:300997 |
| Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Secundum atrial septal defect |
OMIM:223350 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Anemia of inadequate produc... |
OMIM:224120 |
| X-Linked Mandibulofacial Dysostosis |
|
Branchial anomaly, Webbed neck |
ORPHA:1131 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Lymphadenopathy, T lymphocytopenia,... |
ORPHA:83471 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephr... |
ORPHA:139402 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Eczema, Recurrent pneumonia, Abnormal heart mor... |
ORPHA:500159 |
| Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
| Obesity Due To Congenital Leptin Deficiency |
|
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of CD4-positive helper T ... |
ORPHA:66628 |
| Microscopic Polyangiitis |
|
Episcleritis, Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Increased inflammatory respon... |
ORPHA:727 |
| Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia |
ORPHA:163596 |
| American Trypanosomiasis |
|
Skin rash, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia, Infectious encephal... |
ORPHA:3386 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Growth delay, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of CD4-positive helper T ... |
ORPHA:179494 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Recurrent intrapulmonary hemorrhage, Abnorm... |
ORPHA:183 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol... |
ORPHA:284169 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Eczema, Recurrent pneumonia, Recurrent otitis m... |
OMIM:617751 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Anomalous pulmonary venous return, Abnormal aorti... |
ORPHA:1120 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Hypotension, Arrhythmia, Pancreatitis |
ORPHA:188 |
| Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Aortic valve stenosis,... |
ORPHA:210122 |
| Polyarteritis Nodosa |
|
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension |
ORPHA:767 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension |
ORPHA:401923 |
| Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
ORPHA:50815 |
| Vici Syndrome |
|
Decreased circulating IgG level, Postnatal growth retardation, Decreased circulating IgG2 level, ... |
OMIM:242840 |
| Scedosporiosis |
|
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, Endocarditis, Ectopic ca... |
ORPHA:449280 |
| Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
| Catastrophic Antiphospholipid Syndrome |
|
Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran... |
ORPHA:464343 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve |
OMIM:619318 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Prolonged QTc interval, Malar rash, Serositis |
ORPHA:231111 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst |
ORPHA:435938 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Scrub Typhus |
|
Anterior uveitis, Skin rash, Myocarditis, Hypotension, Infectious encephalitis |
ORPHA:83317 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr... |
ORPHA:555877 |
| Heart Block, Congenital |
|
Cardiomyopathy, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular node |
OMIM:234700 |
| Branchiootic Syndrome |
|
Branchial fistula, Facial palsy |
ORPHA:52429 |
| Adult-Onset Still Disease |
|
Pericarditis, Skin rash, Myocarditis, Hepatitis, Arthritis |
ORPHA:829 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Bicuspid aortic valve, Abnormal left ventricular function |
OMIM:132900 |
| Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Fasciitis, Sinusitis, Myositis, Pneumonia, Tachycardia, Osteomyelitis, Skin rash, Myocardi... |
ORPHA:36234 |
| Relapsing Polychondritis |
|
Abnormal endocardium morphology, Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myoc... |
ORPHA:728 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Scoliosis |
ORPHA:320406 |
| Antisynthetase Syndrome |
|
Aortic regurgitation, Myositis, Skin rash, Telangiectasia of the skin, Myocarditis, Keratoconjunc... |
ORPHA:81 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Short stature, Aplasia of the thymus, Decreased response to growth hormone st... |
OMIM:618223 |
| Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve, Eczema |
OMIM:619721 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
| Bor Syndrome |
|
Branchial cyst, Facial palsy |
ORPHA:107 |
| Legionnaires Disease |
|
Pericarditis, Myocarditis, Hepatitis, Endocarditis, Hypotension, Arrhythmia, Infectious encephali... |
ORPHA:549 |
| Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Facial palsy |
OMIM:113650 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Disproportionate s... |
ORPHA:508533 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Increased nuchal translucency, Branchial anomaly, Abnormal autonomic nervous system physiology, I... |
ORPHA:453499 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Lumbar hyperlordosis, Opisthotonus |
OMIM:184850 |
| Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Abnormal cardiac septum morphology, Bicuspid aortic valve |
OMIM:615009 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Coffin-Siris Syndrome 7 |
|
Recurrent otitis media, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction, Myocarditis, Uveitis,... |
ORPHA:3452 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Holoprosencephaly |
|
Encephalocele, Short neck, Hydrocephalus, Optic atrophy, Spinal dysraphism, Branchial anomaly, Ho... |
ORPHA:2162 |
| Grange Syndrome |
|
Coronary artery stenosis, Bicuspid aortic valve, Renovascular hypertension |
OMIM:602531 |
| Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Recurrent pneumonia, Synovitis, Arthritis, Rhinitis, Chron... |
ORPHA:47612 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Short stature, Microcytic anemia, T lymphocytopenia, Delayed puberty |
ORPHA:2959 |
| Q Fever |
|
Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Maculopapular exanthema, Pneumonia,... |
ORPHA:781 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myositis, Skin rash, Gastritis, Myocarditis, Arthritis... |
ORPHA:809 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Neutropenia in presence ... |
ORPHA:391487 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt... |
ORPHA:288 |
| Hengel-Maroofian-Schols Syndrome |
|
Bicuspid aortic valve |
OMIM:619641 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... |
ORPHA:371428 |
| Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Short stature, Dysgammaglobulinemia, T lymphocytopenia, B lymphocyto... |
OMIM:251260 |
| Long Qt Syndrome 15 |
|
Left ventricular noncompaction |
OMIM:616249 |
| Congenital Enterovirus Infection |
|
Skin rash, Pericardial effusion, Myocarditis, Hepatitis, Cardiomyopathy, Hypotension, Infectious ... |
ORPHA:292 |
| Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Skin rash, Myocarditis, Congestive heart failure, ... |
ORPHA:2331 |
| Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Uveitis, Synovitis, Hypertensio... |
OMIM:186580 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization, Hearing impairment |
OMIM:619074 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Short stature, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymp... |
OMIM:607944 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
ORPHA:329224 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Baraitser-Winter Syndrome 1 |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:243310 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Systemic Sclerosis |
|
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Nail bed telangiectas... |
ORPHA:90291 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At... |
ORPHA:477817 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Patent ductus arteriosus, Hydrocephalus, Optic disc coloboma, Low posterior ha... |
ORPHA:261337 |
| Microsporidiosis |
|
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Myocarditis, Lymphadenitis... |
ORPHA:2552 |
| Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve |
OMIM:616367 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Dec... |
OMIM:619381 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
| Oligomeganephronia |
|
Branchial cyst, Optic disc coloboma |
ORPHA:2260 |
| Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... |
ORPHA:91139 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Increased nuchal translucency, Branchial anomaly, Cystic hygroma, Optic nerve hypoplasia |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Increased nuchal translucency, Branchial anomaly, Cystic hygroma, Optic nerve hypoplasia |
ORPHA:352665 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Myositis, Fasciitis, Skin rash, Orchitis, Peritonitis, Vasculitis, Uveitis, Arthrit... |
ORPHA:32960 |
| Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve |
OMIM:614900 |
| Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o... |
ORPHA:117 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Skin rash, Angina pecto... |
ORPHA:93672 |
| Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, At... |
OMIM:121050 |
| Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Cerebral calcification, Acute pancreatitis, Chilblains, Portal hypertension, Perica... |
OMIM:619487 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Truncus arteriosus, Intrauterine growth retardation |
ORPHA:261330 |
| Squalene Synthase Deficiency |
|
Bicuspid aortic valve |
OMIM:618156 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... |
ORPHA:363618 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hypoplastic vertebral bodies, Platyspondyly, Beaking of vertebral b... |
ORPHA:79255 |
| Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Arthritis, Inflammation o... |
ORPHA:29207 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Zygomycosis |
|
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Fasciitis, Gastritis, Epistaxis, Pustule, M... |
ORPHA:73263 |
| Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve |
OMIM:616652 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Aortic valve st... |
ORPHA:2306 |
| Brucellosis |
|
Anterior uveitis, Pericarditis, Osteomyelitis, Transient ischemic attack, Pneumonia, Glomerulonep... |
ORPHA:1304 |
| Listeriosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Congestive heart failure, Peritonit... |
ORPHA:533 |
| Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia |
ORPHA:31824 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Atrial septal defect, Bicuspid aortic valve |
OMIM:619720 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou... |
OMIM:608978 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
| Shigellosis |
|
Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Hypovolemic shock, C... |
ORPHA:810 |
| Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Patent ductus arteriosus |
ORPHA:861 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:457279 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Cholecystitis, Morbillif... |
ORPHA:99827 |
| Lujo Hemorrhagic Fever |
|
Shock, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant hepatitis, Subconjunctival hemo... |
ORPHA:319213 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Mitral valve prolapse |
OMIM:614816 |
| Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Myocardial infarction, Orchitis, Osteoarthritis, Vasculitis, Peritonitis... |
ORPHA:342 |
| Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ... |
ORPHA:3342 |
| Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Arthritis, Cerebral ischemia, Arrhythm... |
ORPHA:397 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Recurrent ... |
ORPHA:900 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... |
ORPHA:247691 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
| Nocardiosis |
|
Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Keratitis, Lymphadenitis... |
ORPHA:31204 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Left ventricular hypertrophy, Mitral regurgitation, Bicuspid aortic valve |
OMIM:617168 |
| Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Chronic otitis media, Arrhythmia, Tetralogy of ... |
ORPHA:261494 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
| Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ... |
OMIM:100300 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Scoliosis, Spinal rigidity |
OMIM:253800 |
| Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Eczema, Pulmonic stenosis, Atrial septal defect |
OMIM:610443 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Facial palsy, Optic disc coloboma, Intrauterine growth retardation |
OMIM:620186 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:614501 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Optic nerve hypoplasia, Short neck, Patent ductus arteriosus, Intrauterine growth... |
ORPHA:508488 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Constrictive pericarditis, Abnormal pericardium morphology, Acute colitis, Congestive heart failure |
ORPHA:67 |
| Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Arthrit... |
ORPHA:221 |
| X Small Rings |
|
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve |
ORPHA:96201 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Kyphosis, Exaggerated startle response, Dystonia |
ORPHA:521426 |
| Koolen-De Vries Syndrome |
|
Abnormal cardiac septum morphology, Bicuspid aortic valve |
ORPHA:96169 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:610759 |
| Scorpion Envenomation |
|
Bundle branch block, Acute pancreatitis, Tachycardia, Cardiac conduction abnormality, Myocarditis... |
ORPHA:466677 |
| Progeroid Short Stature With Pigmented Nevi |
|
Aortic valve stenosis, Allergic conjunctivitis, Bicuspid aortic valve, Allergic rhinitis |
OMIM:176690 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve |
OMIM:618529 |
| Familial Mediterranean Fever |
|
Pericarditis, Orchitis, Peritonitis, Arthritis, Crohn's disease, Erysipelas |
OMIM:249100 |
| 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 |
| Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Vasculitis, Vas... |
ORPHA:228123 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Gastritis, Abnormal heart... |
ORPHA:84064 |
| Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Premature osteoarthritis, Mitral valve prolapse, Hyp... |
OMIM:611962 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
| Pulmonary Alveolar Microlithiasis |
|
Mitral valve calcification, Right ventricular failure, Increased pulmonary vascular resistance, C... |
ORPHA:60025 |
| Lateral Meningocele Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:130720 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Kyphosis, Exaggerated startle response |
OMIM:617527 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary insufficiency, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve... |
OMIM:265380 |
| Tay-Sachs Disease |
|
Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia |
ORPHA:845 |
| Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block |
ORPHA:93317 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Atrial septal defect, Patent foramen ovale, Valvular pulmonary stenosis, Bicuspid aortic valve |
OMIM:300707 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
| Blau Syndrome |
|
Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Iridocyclitis, ... |
ORPHA:90340 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Pericardial effusion, Cardiomyopathy, Pericarditis |
OMIM:212065 |
| Ogden Syndrome |
|
Premature atrial contractions, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal... |
OMIM:300855 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
| Branchiooculofacial Syndrome |
|
Facial palsy, Short neck, Low posterior hairline, Branchial anomaly, Intrauterine growth retardation |
OMIM:113620 |
| Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Perim... |
ORPHA:508498 |
