Cervical Vertebral Bridge |
|
Abnormality of the vertebral column |
OMIM:118000 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... |
OMIM:118005 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic valve calcification, Aortic valve stenosis, Aortic regurgitation |
OMIM:114065 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Storm Syndrome |
|
Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen... |
OMIM:185069 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... |
ORPHA:3093 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... |
OMIM:615897 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis |
OMIM:616566 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... |
OMIM:247630 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Growth d... |
ORPHA:169079 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... |
OMIM:619924 |
Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Familial Bicuspid Aortic Valve |
|
Aortic valve calcification, Bicuspid aortic valve, Aortic valve stenosis, Hypoplastic left heart,... |
ORPHA:402075 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
Primary Basilar Invagination |
|
Abnormal vertebral morphology, Short neck, Abnormality of the cervical spine |
ORPHA:2285 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... |
OMIM:614980 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Growth delay, Lymphadenopathy |
OMIM:619164 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia, Intrauterine growth retardation |
ORPHA:2802 |
Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... |
OMIM:618987 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... |
OMIM:619846 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Calcification of the aorta, Mitral valve calcificati... |
OMIM:231005 |
Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect |
OMIM:614475 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect |
OMIM:618496 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R... |
OMIM:614493 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Scoliosis |
ORPHA:3180 |
Alkaptonuria |
|
Intervertebral disk calcification, Aortic valve calcification, Prostatitis, Osteoarthritis, Mitra... |
ORPHA:56 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Scoliosis, Spina bifida occulta |
ORPHA:2956 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hypoplasia of the thymus, Decre... |
OMIM:300400 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615396 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Atrial Fibrillation, Familial, 13 |
|
Left atrial enlargement, Paroxysmal atrial fibrillation, Aortic valve stenosis |
OMIM:615377 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... |
OMIM:616201 |
Spondylosis, Cervical |
|
Spondylolysis, Cervical spondylosis, Spondylolisthesis, Spina bifida occulta |
OMIM:184300 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Left ventricular nonc... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial fibr... |
OMIM:612158 |
Alkaptonuria |
|
Coronary artery calcification, Aortic valve calcification, Mitral valve calcification, Arthritis |
OMIM:203500 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619510 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T... |
ORPHA:277 |
Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
Galactosialidosis |
|
Abnormal vertebral morphology, Abnormality of the vertebral column |
ORPHA:351 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia... |
OMIM:610163 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Immunodeficiency 104 |
|
Lymphadenopathy, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Megabladder, Congenital |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, ... |
OMIM:618719 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... |
OMIM:618108 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:169154 |
Hypoplastic Left Heart Syndrome 2 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia |
OMIM:614435 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart |
OMIM:241550 |
Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615373 |
Loeffler Endocarditis |
|
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... |
ORPHA:75566 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... |
OMIM:300853 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Schmorl's node, Platyspondyly |
OMIM:604864 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Sudden Cardiac Failure, Infantile |
|
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... |
OMIM:617222 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... |
ORPHA:859 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... |
OMIM:615779 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Absent peripheral lymph ... |
OMIM:600802 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased lymphocyte proliferation in response to anti-CD3, Neutropenia, Lymphopenia, Decreased c... |
OMIM:618986 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Hemivertebrae, Short neck, Vertebral clefting |
OMIM:608681 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
Lymphoid Interstitial Pneumonia |
|
Lymphocytic interstitial pneumonia, Cor pulmonale, Aortic valve stenosis |
OMIM:247610 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... |
OMIM:617241 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... |
OMIM:616636 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal cardiac septum morphology, Abnormal hemoglobin, Short stature, Anemia, Thrombocytopenia |
ORPHA:3319 |
Immunodeficiency 102 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:301082 |
Gaucher Disease Type 3 |
|
Aortic valve calcification, Mitral valve calcification, Abnormal myocardium morphology, Abnormal ... |
ORPHA:77261 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... |
OMIM:618969 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:133780 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Supernume... |
OMIM:609813 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Immunodeficiency 68 |
|
Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... |
OMIM:618534 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Palpi... |
OMIM:620067 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Short chordae tendineae of ... |
OMIM:314400 |
Subaortic Stenosis, Membranous |
|
Subvalvular aortic stenosis |
OMIM:271950 |
Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... |
OMIM:108800 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
Fetal Parvovirus Syndrome |
|
Anemia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Thrombocytopenia |
ORPHA:295 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Retinal Venous Beading |
|
Vitreous hemorrhage, Retinal neovascularization, Hearing impairment, Retinal infarction, Abnormal... |
OMIM:180080 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies, Sacral dimple |
ORPHA:2064 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... |
ORPHA:3092 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Angina pectoris, Bicuspid aortic valve, Congestive heart failure, Atrial ... |
ORPHA:2041 |
Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Postnatal growth r... |
OMIM:615190 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... |
OMIM:619313 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly |
ORPHA:1296 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Shor... |
OMIM:616005 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Aortic Valve Disease 2 |
|
Calcification of the aorta, Bicuspid aortic valve |
OMIM:614823 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve |
ORPHA:228190 |
Hutchinson-Gilford Progeria Syndrome |
|
Mitral stenosis, Abnormal mitral valve morphology, Aortic valve calcification, Angina pectoris, A... |
ORPHA:740 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Anemia, Atrial septal defect |
OMIM:617408 |
Gaucher Disease |
|
Aortic valve calcification, Osteomyelitis, Abnormal pericardium morphology, Osteoarthritis, Mitra... |
ORPHA:355 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ... |
ORPHA:35078 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia |
OMIM:131400 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Bicuspid aortic valve, Aortic valve stenosis |
OMIM:615599 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia i... |
ORPHA:572 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia, Dilated cardiomyopathy |
OMIM:611283 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Short stature, Poikilocytosi... |
OMIM:615631 |
Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:609054 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Bacterial endocarditis, Aortic valve calcification, Calcification of the aorta, Mitral valve calc... |
ORPHA:2072 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Hypertension, Bicuspid aortic valve, Pulmonary arterial hypertension, Atrial septal defect |
OMIM:613355 |
Pericardial Effusion, Chronic |
|
Pericardial effusion, Constrictive pericarditis |
OMIM:260900 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Growth delay, Anemia |
OMIM:615234 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve |
OMIM:604381 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Short stature, T lymphocytopenia, Increased circulating IgM leve... |
OMIM:242860 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis |
ORPHA:2724 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... |
OMIM:619774 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Atrial septal defect, Recurrent skin infections |
OMIM:617744 |
Immunodeficiency 54 |
|
Adrenocorticotropic hormone excess, Splenomegaly, Short stature, Postnatal growth retardation, Ly... |
OMIM:609981 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Transposition of the great arteries, Truncus arteriosus |
OMIM:612474 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Immunodeficiency 17 |
|
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro... |
OMIM:615607 |
Atypical Werner Syndrome |
|
Telangiectasia of the skin, Aortic valve calcification, Subcutaneous calcification, Aortic valve ... |
ORPHA:79474 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... |
ORPHA:2442 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... |
OMIM:615925 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:443811 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis |
OMIM:602248 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Hyperte... |
ORPHA:1457 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Decreased circulating IgA level, Decreased lymphocyte prol... |
ORPHA:276 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Malar rash, Pericarditis, Arthritis |
OMIM:609939 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, L... |
ORPHA:563 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocy... |
OMIM:613011 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... |
ORPHA:99095 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
Singleton-Merten Syndrome 1 |
|
Aortic valve calcification, Aortic valve stenosis, Aortic arch calcification, Mitral valve calcif... |
OMIM:182250 |
Diamond-Blackfan Anemia 9 |
|
Growth delay, Anemia |
OMIM:613308 |
Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia |
OMIM:133180 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... |
OMIM:243700 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
Rheumatic Fever |
|
Abnormal mitral valve morphology, Sinusitis, Endocarditis, Abnormal aortic valve morphology, Myoc... |
ORPHA:3099 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... |
OMIM:619767 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
Immunodeficiency 55 |
|
Lymphopenia, Short stature, Absent natural killer cells, Neutropenia, Postnatal growth retardatio... |
OMIM:617827 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart |
OMIM:618845 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... |
OMIM:252011 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
Stiff Skin Syndrome |
|
Bicuspid aortic valve |
OMIM:184900 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Constrictive pericarditis, Arthritis |
OMIM:208250 |
Sneddon Syndrome |
|
Hypertension, Bicuspid aortic valve, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
Aortic Arch Interruption |
|
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... |
ORPHA:2299 |
Systemic Lupus Erythematosus |
|
Nephritis, Arthritis, Lupus nephritis, Malar rash, Pericarditis |
OMIM:152700 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
Burkitt Lymphoma |
|
Abnormality of the ovary, Decreased proportion of CD4-positive helper T cells, Abnormality of the... |
ORPHA:543 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... |
ORPHA:99094 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:616501 |
Fanconi Anemia, Complementation Group T |
|
Anemia, Thrombocytopenia, Short stature, Pancytopenia |
OMIM:616435 |
Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia, Atrial septal defect |
ORPHA:51208 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Acute Erythroid Leukemia |
|
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia |
ORPHA:318 |
Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
Cardiac Diverticulum |
|
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... |
ORPHA:1686 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Pancytopenia, Panhy... |
ORPHA:79124 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Bicuspid aortic valve, Aortic regurgitation, Arthritis |
OMIM:619825 |
Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve |
OMIM:618955 |
Ataxia-Telangiectasia |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Short stature, Hyp... |
OMIM:208900 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, Ventricul... |
OMIM:617321 |
Diamond-Blackfan Anemia 20 |
|
Anemia, Total anomalous pulmonary venous return, Erythroid hypoplasia |
OMIM:618313 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating IgE, Comp... |
OMIM:300755 |
Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Palpitations, Partial diaphragmatic... |
ORPHA:2847 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Immune-Mediated Necrotizing Myopathy |
|
Skin rash, Raynaud phenomenon, Palpitations, Myositis, Myocarditis, Congestive heart failure |
ORPHA:206569 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Rat-Bite Fever |
|
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanthema, Lymphadenitis, Endocar... |
ORPHA:31205 |
Lessel-Kreienkamp Syndrome |
|
Pulmonic stenosis, Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale |
OMIM:619149 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Mild postnatal growth retardation, Splenomegaly, Anisocytosis, S... |
OMIM:224120 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve |
OMIM:300997 |
Bleeding Disorder, Platelet-Type, 16 |
|
Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Intrauterine growth retardation, Cardiomegaly |
OMIM:618838 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Juvenile rheumatoid arthritis, Pericarditis, Skin rash, Anterior uveitis |
ORPHA:85414 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Eczema, Ventricular septal defect, Patent foramen ovale, Recurrent pneumon... |
ORPHA:500159 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Scoliosis, Exaggerated startle response |
OMIM:609541 |
Polymyositis |
|
Abnormal mitral valve morphology, Chondrocalcinosis, Arrhythmia, Vasculitis, Arthritis, Myocardia... |
ORPHA:732 |
X-Linked Mandibulofacial Dysostosis |
|
Webbed neck, Branchial anomaly |
ORPHA:1131 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Decreased T cell activation, Decreased proportion of CD4-positive helper... |
ORPHA:66628 |
American Trypanosomiasis |
|
Skin rash, Arrhythmia, Myocarditis, Infectious encephalitis, Cardiomyopathy, Congestive heart fai... |
ORPHA:3386 |
Dohle Bodies And Leukemia |
|
Leukocyte inclusion bodies, Anemia, Secundum atrial septal defect, Acute myeloid leukemia |
OMIM:223350 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,... |
ORPHA:83471 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Pustule, Skin rash, Interstitial pneumonitis, Myocarditis, Hepatitis, Tubulointerstitial nephriti... |
ORPHA:139402 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus, Abnormal hemoglobin, Splenomegaly, Pericarditis, Anemia |
ORPHA:163596 |
Microscopic Polyangiitis |
|
Sinusitis, Pancreatitis, Skin rash, Peritonitis, Arrhythmia, Vasculitis, Arthritis, Uveitis, Incr... |
ORPHA:727 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Eczema, Ventricular septal defect, Recurrent pneumonia, Recurrent otitis m... |
OMIM:617751 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Tricuspid regurgi... |
ORPHA:1120 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve |
OMIM:619318 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Decreased T cell activation, Decreased proportion of CD4-positive helper... |
ORPHA:179494 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Abnormal pericardium morphology, Skin rash, Recurrent intrapulmonary hemorrhage, Endoc... |
ORPHA:183 |
Congenital Alveolar Capillary Dysplasia |
|
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo... |
ORPHA:210122 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bicuspid aortic valve, Pulmonic stenosis, Ventricular septal defect, Ventricular hypertrophy, Abn... |
ORPHA:284169 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Aortic regurgitation, Renovascular hypertension |
ORPHA:401923 |
Polyarteritis Nodosa |
|
Hypertension, Pericarditis, Cardiomyopathy, Raynaud phenomenon |
ORPHA:767 |
Systemic Capillary Leak Syndrome |
|
Pancreatitis, Arrhythmia, Hypotension, Myocarditis, Pericarditis |
ORPHA:188 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
ORPHA:50815 |
Nijmegen Breakage Syndrome |
|
Short stature, B lymphocytopenia, T lymphocytopenia, Dysgammaglobulinemia, Autoimmune hemolytic a... |
OMIM:251260 |
Scedosporiosis |
|
Sinusitis, Osteomyelitis, Endocarditis, Ectopic calcification, Pneumonia, Pericarditis, Arthralgi... |
ORPHA:449280 |
Drug-Induced Lupus Erythematosus |
|
Prolonged QTc interval, Serositis, Malar rash, Pericarditis, Pericardial effusion |
ORPHA:231111 |
Scrub Typhus |
|
Skin rash, Hypotension, Myocarditis, Anterior uveitis, Infectious encephalitis |
ORPHA:83317 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst |
ORPHA:435938 |
Atrial Standstill |
|
Flexion contracture, Left ventricular noncompaction, Muscular dystrophy, Skeletal muscle atrophy,... |
ORPHA:1344 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Abnormal heart valve physiology, Pulmonary embolism, Myocarditis, Arthritis, Myo... |
ORPHA:464343 |
Heart Block, Congenital |
|
Myocardial fibrosis, Absent atrioventricular node, Cardiomyopathy, Myocardial calcification |
OMIM:234700 |
Adult-Onset Still Disease |
|
Skin rash, Myocarditis, Arthritis, Hepatitis, Pericarditis |
ORPHA:829 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Intrauterine growth retardation, Anemia, Cardiomyopathy, Neonatal death |
OMIM:618839 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Aortic regurgitation, Abnormal left ventricular function |
OMIM:132900 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Neonatal death |
OMIM:618835 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... |
OMIM:616860 |
Branchiootic Syndrome |
|
Branchial fistula, Facial palsy |
ORPHA:52429 |
Relapsing Polychondritis |
|
Keratitis, Conjunctivitis, Abnormal aortic valve morphology, Chondritis, Myocarditis, Arthritis, ... |
ORPHA:728 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Mitral valve prolapse, Left ventricular noncompaction |
OMIM:163800 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Reticulocytosis, Abnorm... |
ORPHA:3261 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis, Tachycardia, Myositi... |
ORPHA:36234 |
Antisynthetase Syndrome |
|
Telangiectasia of the skin, Skin rash, Myositis, Myocarditis, Aortic regurgitation, Keratoconjunc... |
ORPHA:81 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Bicuspid aortic valve, Eczema, Atrial septal defect, Hypoplastic left heart |
OMIM:619721 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Facial palsy |
OMIM:113650 |
Legionnaires Disease |
|
Pancreatitis, Arrhythmia, Endocarditis, Myocarditis, Hypotension, Hepatitis, Infectious encephali... |
ORPHA:549 |
Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis, Exaggerated startle response |
ORPHA:3198 |
Scleroderma |
|
Keratitis, Calcinosis cutis, Transient ischemic attack, Osteomyelitis, Intestinal bleeding, Rayna... |
ORPHA:801 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, Decreased circulating IgG... |
ORPHA:508533 |
Bor Syndrome |
|
Branchial cyst, Facial palsy |
ORPHA:107 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... |
OMIM:620066 |
Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Bicuspid aortic valve, Patent foramen ovale, Recurrent otitis media |
OMIM:618027 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... |
OMIM:301000 |
Schuurs-Hoeijmakers Syndrome |
|
Abnormal cardiac septum morphology, Bicuspid aortic valve, Patent foramen ovale |
OMIM:615009 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal autonomic nervous system physiology, Cystic hygroma, Branchial anomaly, Intrauterine gro... |
ORPHA:453499 |
Long Qt Syndrome 15 |
|
Left ventricular noncompaction |
OMIM:616249 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Congestive heart failure, Atrial septal defect, Aortic valve stenosis, Mit... |
ORPHA:363705 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly |
OMIM:239850 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, Elli... |
ORPHA:288 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Short stature, Anisocytosis, Poikilocytosis, Anemia, Abnormal ... |
ORPHA:98870 |
Holoprosencephaly |
|
Hydrocephalus, Holoprosencephaly, Short neck, Optic atrophy, Spinal dysraphism, Branchial anomaly... |
ORPHA:2162 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Scoliosis, Exaggerated startle response |
ORPHA:320406 |
Whipple Disease |
|
Myositis, Myocarditis, Arthritis, Hypotension, Myocardial infarction, Uveitis, Infectious encepha... |
ORPHA:3452 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve |
OMIM:618529 |
Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve |
OMIM:614900 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Q Fever |
|
Abnormal left ventricular function, Osteomyelitis, Maculopapular exanthema, Endocarditis, Myocard... |
ORPHA:781 |
Hengel-Maroofian-Schols Syndrome |
|
Bicuspid aortic valve |
OMIM:619641 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Short stature, T lymphocytopenia, Microcytic anemia, Delayed puberty |
ORPHA:2959 |
Felty Syndrome |
|
Sinusitis, Chronic otitis media, Arthritis, Episcleritis, Recurrent pneumonia, Pericarditis, Rhin... |
ORPHA:47612 |
Grange Syndrome |
|
Bicuspid aortic valve, Renovascular hypertension, Coronary artery stenosis |
OMIM:602531 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Mixed Connective Tissue Disease |
|
Gastritis, Skin rash, Myositis, Myocarditis, Arthritis, Keratoconjunctivitis sicca, Gastrointesti... |
ORPHA:809 |
Thymic Tumor |
|
Pericarditis, Cardiac arrest |
ORPHA:100100 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, V... |
OMIM:619343 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Congenital Enterovirus Infection |
|
Skin rash, Hypotension, Myocarditis, Hepatitis, Cardiomyopathy, Infectious encephalitis, Pericard... |
ORPHA:292 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Arthritis, Ventricula... |
ORPHA:371428 |
Blau Syndrome |
|
Iritis, Eczema, Arthritis, Uveitis, Nongranulomatous uveitis, Hypertension, Pericarditis, Erythem... |
OMIM:186580 |
Diamond-Blackfan Anemia 10 |
|
Steroid-responsive anemia, Short stature, Macrocytic anemia, Ventricular septal defect, Patent du... |
OMIM:613309 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale |
ORPHA:329224 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Short stature, Neutropenia |
OMIM:617243 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Hearing impairment, Retinal neovascularization |
OMIM:619074 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphopenia, Short stature, Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphade... |
OMIM:607944 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Aortic valve stenosis |
OMIM:243310 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Patent fora... |
OMIM:619167 |
Distal 22Q11.2 Microduplication Syndrome |
|
Hydrocephalus, Branchial fistula, Optic disc coloboma, Patent ductus arteriosus, Webbed neck, Low... |
ORPHA:261337 |
Stiff-Person Syndrome |
|
Lumbar hyperlordosis, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Systemic Sclerosis |
|
Telangiectasia, Calcinosis cutis, Osteomyelitis, Intestinal bleeding, Recurrent skin infections, ... |
ORPHA:90291 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
Kawasaki Disease |
|
Cheilitis, Skin rash, Double outlet right ventricle with subpulmonary ventricular septal defect w... |
ORPHA:2331 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... |
ORPHA:477817 |
Oligomeganephronia |
|
Branchial cyst, Optic disc coloboma |
ORPHA:2260 |
Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve |
OMIM:616367 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Nephritis, Raynaud phenomenon, Membranoproliferative glomerulonephritis, Vasculi... |
ORPHA:91139 |
Microsporidiosis |
|
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Osteomyelitis, Nephritis, Lymphadenitis, Periton... |
ORPHA:2552 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Cystic hygroma, Increased nuchal translucency, Branchial anomaly |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Cystic hygroma, Increased nuchal translucency, Branchial anomaly |
ORPHA:352665 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Orchitis, Skin rash, Peritonitis, Erysipelas, Myositis, Arthritis, Vasculitis, Uveitis, Fasciitis... |
ORPHA:32960 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,... |
OMIM:619381 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Behçet Disease |
|
Pancreatitis, Myocardial infarction, Increased inflammatory response, Abnormal myocardium morphol... |
ORPHA:117 |
Squalene Synthase Deficiency |
|
Bicuspid aortic valve |
OMIM:618156 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Mitral regurgitation, Bicuspid aortic valve |
OMIM:617168 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Isotretinoin-Like Syndrome |
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Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Conotruncal ... |
ORPHA:2306 |
Aicardi-Goutieres Syndrome 9 |
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Basal ganglia calcification, Cerebral calcification, Left ventricular hypertrophy, Chilblains, Ac... |
OMIM:619487 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Mitral valve calcification,... |
ORPHA:363618 |
Distal 22Q11.2 Microdeletion Syndrome |
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Branchial fistula, Intrauterine growth retardation, Truncus arteriosus |
ORPHA:261330 |
Contractural Arachnodactyly, Congenital |
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Bicuspid aortic valve, Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Mit... |
OMIM:121050 |
Juvenile Dermatomyositis |
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Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Skin r... |
ORPHA:93672 |
Zygomycosis |
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Melena, Sinusitis, Colitis, Pancreatitis, Gastritis, Nephritis, Enterocolitis, Pustule, Hematemes... |
ORPHA:73263 |
Meacham Syndrome |
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Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Branchial anomaly |
ORPHA:466950 |
Brucellosis |
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Transient ischemic attack, Osteomyelitis, Orchitis, Arteritis, Abnormal aortic valve morphology, ... |
ORPHA:1304 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
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Bicuspid aortic valve, Aortic valve stenosis |
OMIM:614501 |
Gm2 Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
ORPHA:309246 |
Listeriosis |
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Osteomyelitis, Pustule, Arteritis, Peritonitis, Endocarditis, Myocarditis, Cholecystitis, Infecti... |
ORPHA:533 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abn... |
ORPHA:457279 |
Naxos Disease |
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Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Colchicine Poisoning |
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Hypovolemia, Arrhythmia, Cardiogenic shock, Hypotension, Myocarditis, Congestive heart failure |
ORPHA:31824 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
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Bicuspid aortic valve, Atrial septal defect |
OMIM:619720 |
Crimean-Congo Hemorrhagic Fever |
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Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Epididymitis, Bundle branch... |
ORPHA:99827 |
Treacher-Collins Syndrome |
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Encephalocele, Patent ductus arteriosus, Branchial fistula |
ORPHA:861 |
Shigellosis |
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Acute colitis, Hypovolemic shock, Peritonitis, Myocarditis, Arthritis, Uveitis, Pneumonia, Ulcera... |
ORPHA:810 |
Reactive Arthritis |
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Osteomyelitis, Pustule, Inflammation of the large intestine, Arthritis, Aortic regurgitation, Rec... |
ORPHA:29207 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Familial Mediterranean Fever |
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Pancreatitis, Orchitis, Skin rash, Peritonitis, Osteoarthritis, Arrhythmia, Erysipelas, Vasculiti... |
ORPHA:342 |
Loeys-Dietz Syndrome 4 |
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Mitral valve prolapse, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus |
OMIM:614816 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Bicuspid aortic valve, Abnormal left ventricular function, Hypovolemia, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Adams-Oliver Syndrome 1 |
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Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Hypoplastic left heart, Pulmo... |
OMIM:100300 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Lujo Hemorrhagic Fever |
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Skin rash, Maculopapular exanthema, Fulminant hepatitis, Myocarditis, Hypotension, Shock, Subconj... |
ORPHA:319213 |
Gm2-Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
OMIM:272750 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Arterial Tortuosity Syndrome |
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Telangiectasia of the skin, Myocarditis, Myocardial infarction, Dilated cardiomyopathy, Abnormal ... |
ORPHA:3342 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Macular edema, Retinal cotton wool spot, Retinal neovascularization, Abnormal retinal vascular mo... |
ORPHA:247691 |
Visceral Steatosis, Congenital |
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Myocardial steatosis |
OMIM:228100 |
Giant Cell Arteritis |
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Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... |
ORPHA:397 |
Nocardiosis |
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Keratitis, Cutaneous abscess, Thyroiditis, Osteomyelitis, Lymphadenitis, Peritonitis, Endocarditi... |
ORPHA:31204 |
Gm1 Gangliosidosis Type 1 |
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Beaking of vertebral bodies T12-L3, Platyspondyly, Exaggerated startle response, Hypoplastic vert... |
ORPHA:79255 |
Granulomatosis With Polyangiitis |
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Angina pectoris, Sinusitis, Prostatitis, Pancreatitis, Skin rash, Otitis media, Hypertension, Rec... |
ORPHA:900 |
Kleefstra Syndrome |
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Bicuspid aortic valve, Arrhythmia, Chronic otitis media, Tetralogy of Fallot, Ventricular septal ... |
ORPHA:261494 |
X Small Rings |
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Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis |
ORPHA:96201 |
Amoebiasis Due To Entamoeba Histolytica |
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Acute colitis, Constrictive pericarditis, Abnormal pericardium morphology, Congestive heart failure |
ORPHA:67 |
Koolen-De Vries Syndrome |
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Abnormal cardiac septum morphology, Bicuspid aortic valve |
ORPHA:96169 |
Koolen-De Vries Syndrome |
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Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Eczema, Ventricular septal defect |
OMIM:610443 |
Scorpion Envenomation |
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Bundle branch block, Premature ventricular contraction, ST segment depression, Tachycardia, Arrhy... |
ORPHA:466677 |
Progeroid Short Stature With Pigmented Nevi |
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Allergic rhinitis, Bicuspid aortic valve, Aortic valve stenosis, Allergic conjunctivitis |
OMIM:176690 |
Dermatomyositis |
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Telangiectasia of the skin, Sinus tachycardia, Chondrocalcinosis, Arrhythmia, Myocarditis, Arthri... |
ORPHA:221 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
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Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis, Atrial septal defect |
OMIM:610759 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
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Bicuspid aortic valve |
OMIM:300707 |
Syndromic Diarrhea |
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Bicuspid aortic valve, Colitis, Atrial septal defect, Gastritis, Tetralogy of Fallot, Ventricular... |
ORPHA:84064 |
Hunter-Macdonald Syndrome |
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Bicuspid aortic valve, Mitral regurgitation, Mitral valve prolapse, Aortic regurgitation, Prematu... |
OMIM:611962 |
Familial Mediterranean Fever |
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Crohn's disease, Orchitis, Peritonitis, Erysipelas, Arthritis, Pericarditis |
OMIM:249100 |
Pulmonary Alveolar Microlithiasis |
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Stippled calcification in carpal bones, Calcification of the aorta, Right ventricular failure, Mi... |
ORPHA:60025 |
Coccidioidomycosis |
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Osteomyelitis, Pancreatitis, Folliculitis, Skin rash, Peritonitis, Vasculitis, Arthritis, Cerebra... |
ORPHA:228123 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, Atr... |
OMIM:265380 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Spinal rigidity, Scoliosis, Exaggerated startle response |
OMIM:253800 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... |
OMIM:245600 |
Lateral Meningocele Syndrome |
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Bicuspid aortic valve |
OMIM:130720 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
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Mitral regurgitation, Bicuspid aortic valve, Aortic valve stenosis |
OMIM:613563 |
Plaa-Associated Neurodevelopmental Disorder |
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Dystonia, Kyphosis, Exaggerated startle response |
ORPHA:521426 |
Asparagine Synthetase Deficiency |
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Exaggerated startle response |
OMIM:615574 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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