| Cervical Vertebral Bridge |
|
Abnormality of the vertebral column |
OMIM:118000 |
| Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification |
OMIM:114065 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis |
OMIM:616566 |
| Congenital Aortic Valve Stenosis |
|
Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure... |
ORPHA:3093 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG |
OMIM:613495 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
| Vertebral Hypoplasia With Lumbar Kyphosis |
|
Lumbar kyphosis, Vertebral hypoplasia |
OMIM:192900 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... |
OMIM:617514 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
| Primary Basilar Invagination |
|
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck |
ORPHA:2285 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... |
ORPHA:169079 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level |
OMIM:616911 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
| Osteomesopyknosis |
|
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:2777 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Familial Bicuspid Aortic Valve |
|
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Aortic regurgitation, ... |
ORPHA:402075 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... |
OMIM:614980 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... |
OMIM:312863 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay |
OMIM:619164 |
| Singleton-Merten Syndrome 2 |
|
Aortic valve stenosis, Arrhythmia, Aortic valve calcification |
OMIM:616298 |
| Immunodeficiency 50 |
|
Lymphopenia, Decreased circulating antibody level, Neutropenia |
OMIM:300988 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia, Intrauterine growth retardation |
ORPHA:2802 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... |
OMIM:619846 |
| Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect |
OMIM:614475 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... |
OMIM:300400 |
| Spondylocamptodactyly Syndrome |
|
Platyspondyly, Scoliosis |
ORPHA:3180 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... |
OMIM:613494 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
| Acrodysplasia Scoliosis |
|
Spina bifida occulta, Scoliosis, Vertebral segmentation defect |
ORPHA:2956 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... |
OMIM:614493 |
| Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615396 |
| Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... |
OMIM:618204 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
| Spondylosis, Cervical |
|
Spina bifida occulta, Spondylolysis, Spondylolisthesis, Cervical spondylosis |
OMIM:184300 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... |
OMIM:613493 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
| Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... |
ORPHA:411527 |
| Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Postnatal growth retardation, Splenomegaly, Partial absence of s... |
OMIM:620632 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619510 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... |
OMIM:601493 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... |
OMIM:612158 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... |
OMIM:616201 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Calcification of the aorta, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
| Galactosialidosis |
|
Abnormal vertebral morphology, Abnormality of the vertebral column |
ORPHA:351 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... |
OMIM:607271 |
| Immunodeficiency 25 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618108 |
| Immunodeficiency 104 |
|
T lymphocytopenia, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
| Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... |
OMIM:608850 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Lack of T cell function, Increased circulating IgE level, ... |
ORPHA:277 |
| Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
| Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation |
OMIM:615377 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T... |
ORPHA:169154 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615373 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... |
OMIM:300853 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... |
ORPHA:75566 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... |
OMIM:615214 |
| Aortic Valve Disease 3 |
|
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect |
OMIM:618496 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Megabladder, Congenital |
|
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... |
OMIM:618719 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Intrauteri... |
ORPHA:2133 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Abnormal T cell count, Increased circulating IgE level, Decrease... |
OMIM:615767 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| Familial Exudative Vitreoretinopathy |
|
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... |
ORPHA:891 |
| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... |
ORPHA:859 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... |
OMIM:618986 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... |
OMIM:617241 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
| Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... |
OMIM:618459 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Congestive heart failure, Short chordae tendineae of the mitral valve, Tric... |
OMIM:314400 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... |
OMIM:600802 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Abnormal cardiac septum morphology, Thrombocytopenia, Anemia, Short stature |
ORPHA:3319 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... |
OMIM:301082 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... |
OMIM:609813 |
| Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... |
OMIM:618969 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Tricuspid regurgitation, Palpitations, Bicuspid aortic valve, Subvalvular a... |
OMIM:620067 |
| Alkaptonuria |
|
Aortic valve calcification, Mitral valve calcification, Coronary artery calcification, Arthritis |
OMIM:203500 |
| Alkaptonuria |
|
Aortic valve stenosis, Aortic valve calcification, Abnormal heart valve morphology, Calcification... |
ORPHA:56 |
| Immunodeficiency 68 |
|
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... |
OMIM:242700 |
| Fetal Parvovirus Syndrome |
|
Anemia, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Thrombocytopenia |
ORPHA:295 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... |
OMIM:619313 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:607594 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies, Sacral dimple |
ORPHA:2064 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Postnatal growth retardation, Intrauterine growth retardation, Leuko... |
OMIM:615190 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Fixed Subaortic Stenosis |
|
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... |
ORPHA:3092 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Postnatal growth retardation, Lymphopenia, Leukopenia, Splenomeg... |
OMIM:620210 |
| Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... |
OMIM:108800 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... |
OMIM:604169 |
| Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly |
ORPHA:1296 |
| Aortic Valve Disease 2 |
|
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa... |
OMIM:614823 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
| Gaucher Disease Type 3 |
|
Aortic valve calcification, Abnormal heart valve morphology, Mitral valve calcification, Abnormal... |
ORPHA:77261 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... |
OMIM:620430 |
| Diamond-Blackfan Anemia 16 |
|
Anemia, Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... |
OMIM:616005 |
| Eales Disease |
|
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... |
ORPHA:40923 |
| Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... |
ORPHA:2041 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Panhypogammagl... |
ORPHA:572 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... |
ORPHA:35078 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis,... |
OMIM:615631 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve |
ORPHA:228190 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... |
OMIM:308240 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... |
OMIM:613426 |
| Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:609054 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Chronic decreased circu... |
OMIM:615607 |
| Immunodeficiency 40 |
|
Eosinophilic granuloma, Reduced antigen-specific T cell proliferation, Thrombocytopenia, T lympho... |
OMIM:616433 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Immunodeficiency 96 |
|
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... |
OMIM:619774 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Perimembranous ventri... |
OMIM:620135 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, Decreased circulating IgA level, Short stature, T lymphocytope... |
OMIM:242860 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Aortic regurgitation,... |
ORPHA:740 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Postnatal growth retardation, Intrauterine growth retardation,... |
OMIM:609981 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... |
OMIM:606367 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Immunodeficiency 114, Folate-Responsive |
|
Decreased circulating IgG level, Increased circulating IgE level, Postnatal growth retardation, L... |
OMIM:620603 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... |
OMIM:613011 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Intrauterine growth retardation, T lymphocytopenia, Abnormal natural killer cell morphology, B ly... |
OMIM:615966 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
| Pgm3-Cdg |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
| Growth Hormone Deficiency, Isolated Partial |
|
Short stature, Postnatal growth retardation, Small pituitary gland, Decreased response to growth ... |
OMIM:615925 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... |
ORPHA:276 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve |
OMIM:604381 |
| Vitreoretinochoroidopathy |
|
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... |
OMIM:193220 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... |
ORPHA:99095 |
| Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis |
ORPHA:2724 |
| Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Aortic valve calcification, Bacterial endocarditis, Calcification of the aorta, Spontaneous, recu... |
ORPHA:2072 |
| Gaucher Disease |
|
Aortic valve calcification, Hepatitis, Abnormal pericardium morphology, Abnormal heart valve morp... |
ORPHA:355 |
| Verheij Syndrome |
|
Branchial cyst, Intrauterine growth retardation, Truncus arteriosus, Short neck, Optic nerve hypo... |
OMIM:615583 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Recurrent skin infections, Atrial septal defect |
OMIM:617744 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
| Malignant Atrophic Papulosis |
|
Constrictive pericarditis, Gastrointestinal hemorrhage |
OMIM:602248 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... |
OMIM:613673 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Aorta Coarctation |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... |
ORPHA:1457 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Malar rash, Arthritis, Pericarditis |
OMIM:609939 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Bicuspid aortic valve, Arthritis |
OMIM:619825 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Postnatal growth retardation, Intrauterine growth retardation, Lymph... |
OMIM:617827 |
| Branchiogenic-Deafness Syndrome |
|
Branchial fistula, Branchial cyst |
OMIM:609166 |
| Atypical Werner Syndrome |
|
Aortic valve stenosis, Aortic valve calcification, Subcutaneous calcification, Chondrocalcinosis,... |
ORPHA:79474 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... |
OMIM:617021 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Leukemia, Lymphopenia, Decreas... |
OMIM:208900 |
| Burkitt Lymphoma |
|
Abnormality of the ovary, Abnormality of the spleen, Decreased proportion of CD4-positive helper ... |
ORPHA:543 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Bicuspid aortic valve, Double outlet right ventricle |
OMIM:618845 |
| Rheumatic Fever |
|
Epistaxis, Abnormal heart valve morphology, Abnormal aortic valve morphology, Abnormal mitral val... |
ORPHA:3099 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia |
OMIM:206100 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:616501 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:601494 |
| Aortic Arch Interruption |
|
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic... |
ORPHA:2299 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... |
OMIM:615758 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Absence of lymph node germinal center, Panhypogammaglobul... |
ORPHA:79124 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Cardiomegaly, Mitral... |
OMIM:182250 |
| Stiff Skin Syndrome |
|
Bicuspid aortic valve |
OMIM:184900 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,... |
ORPHA:99094 |
| Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
| Sneddon Syndrome |
|
Bicuspid aortic valve, Ischemic stroke, Hypertension, Cerebral hemorrhage |
OMIM:182410 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
| Agammaglobulinemia, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgA level, Lymph node hypoplasia, Agammagl... |
OMIM:300755 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... |
ORPHA:101096 |
| Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia, Total anomalous pulmonary venous return |
OMIM:618313 |
| Systemic Lupus Erythematosus |
|
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis |
OMIM:152700 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Scoliosis, Kyphosis, Exaggerated startle response |
OMIM:609541 |
| Yao Syndrome |
|
Ventricular hypertrophy, Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunct... |
OMIM:617321 |
| Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis, Exaggerated startle response |
ORPHA:3198 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul... |
OMIM:615234 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia |
OMIM:187800 |
| Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Secundum atrial septal defect, Leukocyte inclusion bodies |
OMIM:223350 |
| Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve |
OMIM:618955 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Intrauterine growth retardation, Cardiomegaly |
OMIM:618838 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... |
ORPHA:1686 |
| Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
| X-Linked Mandibulofacial Dysostosis |
|
Webbed neck, Branchial anomaly |
ORPHA:1131 |
| Nephronophthisis 9 |
|
Anemia, Postnatal growth retardation |
OMIM:613824 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Mild postnatal growth retardation, Re... |
OMIM:224120 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... |
ORPHA:83471 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
| Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... |
OMIM:620519 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Decreased T cell ... |
ORPHA:66628 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus... |
ORPHA:555877 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Hydrocephalus, Anemia, Pericarditis |
ORPHA:163596 |
| Danon Disease |
|
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali... |
OMIM:300257 |
| Heart Block, Congenital |
|
Myocardial calcification, Absent atrioventricular node, Cardiomyopathy, Myocardial fibrosis |
OMIM:234700 |
| Pericardial And Diaphragmatic Defect |
|
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal... |
ORPHA:2847 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Skin rash, Arthritis, Juvenile rheumatoid arthritis, Pericarditis, Anterior uveitis |
ORPHA:85414 |
| Immune-Mediated Necrotizing Myopathy |
|
Congestive heart failure, Palpitations, Skin rash, Myositis, Raynaud phenomenon, Myocarditis |
ORPHA:206569 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Decreased T cell ... |
ORPHA:179494 |
| Branchiogenic Deafness Syndrome |
|
Branchial fistula, Branchial cyst |
ORPHA:50815 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Osteoarthritis of the elbow, Mitral regurgitation, Mitral valve prolapse, Knee osteoarthritis, Pe... |
ORPHA:2848 |
| Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Pulmonic stenosis, Atrial septal defect, Patent foramen ovale |
OMIM:619149 |
| Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve |
OMIM:300997 |
| Rat-Bite Fever |
|
Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Oligoarthritis... |
ORPHA:31205 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension |
ORPHA:401923 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Erythroderma, M... |
ORPHA:139402 |
| Vici Syndrome |
|
Cutaneous anergy, Decreased circulating IgG level, Postnatal growth retardation, Lymphopenia, Leu... |
OMIM:242840 |
| Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting |
OMIM:615709 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst |
ORPHA:435938 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Atrioventricular canal defect, Tricuspid regurgitation, Abnormal aortic valve morphology, Bicuspi... |
ORPHA:1120 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Chondrocalcinosis, Abnormal atri... |
ORPHA:732 |
| Systemic Capillary Leak Syndrome |
|
Hypotension, Arrhythmia, Pancreatitis, Myocarditis, Pericarditis |
ORPHA:188 |
| American Trypanosomiasis |
|
Cardiomyopathy, Congestive heart failure, Skin rash, Infectious encephalitis, Arrhythmia, Myocard... |
ORPHA:3386 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ... |
OMIM:243700 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Recurrent pneumonia, Eczematoid dermatitis, Abnormal heart morphology, Recurrent otitis media, Pa... |
ORPHA:500159 |
| Microscopic Polyangiitis |
|
Vasculitis, Gastrointestinal hemorrhage, Uveitis, Epistaxis, Congestive heart failure, Episclerit... |
ORPHA:727 |
| Branchiootic Syndrome |
|
Facial palsy, Branchial fistula |
ORPHA:52429 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Scoliosis, Exaggerated startle response |
ORPHA:320406 |
| Sick Sinus Syndrome 2 |
|
Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse |
OMIM:163800 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Bicuspid aortic valve, Abnormal left ventricular function |
OMIM:132900 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog... |
ORPHA:183 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hypoparathyroi... |
OMIM:618223 |
| Bor Syndrome |
|
Facial palsy, Branchial cyst |
ORPHA:107 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... |
OMIM:620066 |
| Scedosporiosis |
|
Pneumonia, Ectopic calcification, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthriti... |
ORPHA:449280 |
| Branchiootorenal Syndrome 1 |
|
Facial palsy, Branchial fistula, Branchial cyst |
OMIM:113650 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Intrauterine growth retardation, Increased nuchal translucency, Branchial anomaly, Abnormal auton... |
ORPHA:453499 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Ventricular septal defect, Bi... |
OMIM:617751 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Dispr... |
ORPHA:508533 |
| Antisynthetase Syndrome |
|
Aortic regurgitation, Skin rash, Myositis, Keratoconjunctivitis sicca, Pulmonary arterial hyperte... |
ORPHA:81 |
| Scrub Typhus |
|
Hypotension, Skin rash, Infectious encephalitis, Myocarditis, Anterior uveitis |
ORPHA:83317 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... |
ORPHA:284169 |
| Stiff-Person Syndrome |
|
Opisthotonus, Lumbar hyperlordosis, Exaggerated startle response |
OMIM:184850 |
| Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
ORPHA:210122 |
| Polyarteritis Nodosa |
|
Hypertension, Raynaud phenomenon, Cardiomyopathy, Pericarditis |
ORPHA:767 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ... |
OMIM:301000 |
| Catastrophic Antiphospholipid Syndrome |
|
Pulmonary embolism, Arterial occlusion, Abnormal heart valve morphology, Transient ischemic attac... |
ORPHA:464343 |
| Drug-Induced Lupus Erythematosus |
|
Malar rash, Pericardial effusion, Prolonged QTc interval, Pericarditis, Serositis |
ORPHA:231111 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve |
OMIM:619318 |
| Holoprosencephaly |
|
Optic atrophy, Spinal dysraphism, Branchial anomaly, Encephalocele, Short neck, Hydrocephalus, Ho... |
ORPHA:2162 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Microcytic anemia, Delayed puberty, Short stature, T lymphocytopenia, Neoplasm of the pancreas |
ORPHA:2959 |
| Legionnaires Disease |
|
Hypotension, Hepatitis, Infectious encephalitis, Arrhythmia, Pancreatitis, Myocarditis, Endocardi... |
ORPHA:549 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect |
OMIM:617450 |
| Bacterial Toxic-Shock Syndrome |
|
Pneumonia, Hypotension, Septic arthritis, Hepatitis, Fasciitis, Shock, Osteomyelitis, Skin rash, ... |
ORPHA:36234 |
| Relapsing Polychondritis |
|
Uveitis, Keratitis, Hepatitis, Large vessel vasculitis, Recurrent aphthous stomatitis, Episclerit... |
ORPHA:728 |
| Nijmegen Breakage Syndrome |
|
Intrauterine growth retardation, Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytope... |
OMIM:251260 |
| Long Qt Syndrome 15 |
|
Left ventricular noncompaction |
OMIM:616249 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Hypoplastic left heart, Bicuspid aortic valve, Eczematoid dermatitis, Atrial septal defect |
OMIM:619721 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Short stature, Autoimmune thrombocy... |
OMIM:607944 |
| Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Patent foramen ovale, Abnormal cardiac septum morphology |
OMIM:615009 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... |
OMIM:608643 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization, Hearing impairment |
OMIM:619074 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... |
ORPHA:363705 |
| Coffin-Siris Syndrome 7 |
|
Recurrent otitis media, Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect |
OMIM:618027 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Hypotension, Uveitis, Infectious encephalitis, Myositis, Arthritis, ... |
ORPHA:3452 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Webbed neck, Branchial fistula, Optic disc coloboma, Low posterior hairline, Hydrocephalus, Paten... |
ORPHA:261337 |
| Q Fever |
|
Pneumonia, Vasculitis, Hepatitis, Abnormal heart valve morphology, Osteomyelitis, Cholecystitis, ... |
ORPHA:781 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion |
OMIM:239850 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Skin rash, Myositis, Gastritis, Keratoconjunctivitis sicca, Pulmonar... |
ORPHA:809 |
| Felty Syndrome |
|
Recurrent pneumonia, Episcleritis, Synovitis, Arthritis, Sinusitis, Rhinitis, Chronic otitis medi... |
ORPHA:47612 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ... |
ORPHA:371428 |
| Grange Syndrome |
|
Bicuspid aortic valve, Renovascular hypertension, Coronary artery stenosis |
OMIM:602531 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... |
OMIM:619381 |
| Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... |
OMIM:618619 |
| Congenital Enterovirus Infection |
|
Hypotension, Hepatitis, Cardiomyopathy, Skin rash, Infectious encephalitis, Myocarditis, Pericard... |
ORPHA:292 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
| Oligomeganephronia |
|
Branchial cyst, Optic disc coloboma |
ORPHA:2260 |
| Blau Syndrome |
|
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Synovitis, Arthritis, Erythema nodosum,... |
OMIM:186580 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... |
OMIM:619343 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Cystic hygroma, Increased nuchal translucency, Branchial anomaly, Optic nerve hypoplasia |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Cystic hygroma, Increased nuchal translucency, Branchial anomaly, Optic nerve hypoplasia |
ORPHA:352665 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Intrauterine growth retardation, Branchial fistula, Truncus arteriosus |
ORPHA:261330 |
| Adult-Onset Still Disease |
|
Hepatitis, Interstitial pneumonitis, Skin rash, Arthritis, Arthralgia/arthritis, Myocarditis, Per... |
ORPHA:829 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Contractural Arachnodactyly, Congenital |
|
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, At... |
OMIM:121050 |
| Systemic Sclerosis |
|
Intestinal bleeding, Right ventricular failure, Nail bed telangiectasia, Osteomyelitis, Interstit... |
ORPHA:90291 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... |
ORPHA:477817 |
| Behçet Disease |
|
Mitral regurgitation, Endocarditis, Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage... |
ORPHA:117 |
| Microsporidiosis |
|
Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Osteomyelitis, Infectious encephalitis... |
ORPHA:2552 |
| Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve |
OMIM:616367 |
| Gm1 Gangliosidosis Type 1 |
|
Platyspondyly, Beaking of vertebral bodies T12-L3, Exaggerated startle response, Hypoplastic vert... |
ORPHA:79255 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Exaggerated startle response |
OMIM:618056 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Macular edema, Abnormal retinal vascular morphology, Retinal neovascularization, Retinal cotton w... |
ORPHA:247691 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Treacher-Collins Syndrome |
|
Patent ductus arteriosus, Branchial fistula, Encephalocele |
ORPHA:861 |
| Reactive Arthritis |
|
Aortic regurgitation, Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stom... |
ORPHA:29207 |
| Simple Cryoglobulinemia |
|
Vasculitis, Gastrointestinal hemorrhage, Nephritis, Viral hepatitis, Congestive heart failure, Ab... |
ORPHA:91139 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Congestive heart failure, Mitral regurgitation, M... |
ORPHA:363618 |
| Juvenile Dermatomyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Skin rash, Myositis... |
ORPHA:93672 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Zygomycosis |
|
Nephritis, Gastrointestinal hemorrhage, Hematochezia, Melena, Hepatitis, Epistaxis, Fasciitis, In... |
ORPHA:73263 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Vasculitis, Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Abnormal ... |
ORPHA:32960 |
| Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormal cardiac atrium morphology,... |
ORPHA:2306 |
| Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve |
OMIM:614900 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Mitral regurgitation |
OMIM:617168 |
| Fliedner-Zweier Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect |
OMIM:620511 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
| Listeriosis |
|
Pneumonia, Arteritis, Septic arthritis, Congestive heart failure, Osteomyelitis, Pyelonephritis, ... |
ORPHA:533 |
| Brucellosis |
|
Pneumonia, Hip osteoarthritis, Arteritis, Septic arthritis, Anterior uveitis, Sacroiliac arthriti... |
ORPHA:1304 |
| Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Double outlet right ventricle, Ventricular septal defect |
OMIM:616652 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Kawasaki Disease |
|
Vasculitis, Hepatitis, Double outlet right ventricle with subpulmonary ventricular septal defect ... |
ORPHA:2331 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Scoliosis, Exaggerated startle response, Spinal rigidity |
OMIM:253800 |
| Colchicine Poisoning |
|
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypovolemia |
ORPHA:31824 |
| Shigellosis |
|
Pneumonia, Hypovolemic shock, Ulcerative colitis, Peritonitis, Arthritis, Myocarditis, Conjunctiv... |
ORPHA:810 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v... |
ORPHA:91387 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Natal tooth, Branchial cyst, Optic disc coloboma, Intrauterine growth retardation, Facial palsy |
OMIM:620186 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Shock, Skin rash, Maculopapular exanthema, Bradycardia, Myocarditis, Subconjunctival... |
ORPHA:319213 |
| Meacham Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Ventricular septal defect, Bicuspi... |
OMIM:608978 |
| Crimean-Congo Hemorrhagic Fever |
|
Morbilliform rash, Retinal hemorrhage, Erythema nodosum, Tachycardia, Epididymitis, Diffuse alveo... |
ORPHA:99827 |
| Congenital Syphilis |
|
Pneumonia, Keratitis, Synovitis, Pancreatitis, Myocarditis, Rhinitis, Maculopapular exanthema, Uv... |
ORPHA:499009 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Intrauterine growth retardation, Truncus arteriosus, Short neck, Spina bifida occ... |
ORPHA:508488 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Kyphosis, Exaggerated startle response |
ORPHA:521426 |
| Arterial Tortuosity Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Esophagitis, Telan... |
ORPHA:3342 |
| Granulomatosis With Polyangiitis |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Otitis media, Skin rash, I... |
ORPHA:900 |
| Nocardiosis |
|
Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Abnormal heart valve morphology, Osteomye... |
ORPHA:31204 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Kyphosis, Exaggerated startle response |
OMIM:617527 |
| Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Premature osteoarthritis, Mitral regurgitation, Mitral valve prolapse, Bicu... |
OMIM:611962 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:100300 |
| Tay-Sachs Disease |
|
Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia |
ORPHA:845 |
| Familial Mediterranean Fever |
|
Vasculitis, Erysipelas, Skin rash, Orchitis, Peritonitis, Arrhythmia, Pancreatitis, Arthritis, Os... |
ORPHA:342 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:614501 |
| X Small Rings |
|
Bicuspid aortic valve, Mitral stenosis, Ventricular septal defect |
ORPHA:96201 |
| Progeroid Short Stature With Pigmented Nevi |
|
Aortic valve stenosis, Bicuspid aortic valve, Allergic conjunctivitis, Allergic rhinitis |
OMIM:176690 |
| Scorpion Envenomation |
|
Acute pancreatitis, Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch ... |
ORPHA:466677 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, ... |
ORPHA:84064 |
| Familial Mediterranean Fever |
|
Erysipelas, Crohn's disease, Orchitis, Peritonitis, Arthritis, Pericarditis |
OMIM:249100 |
| Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
| Noonan Syndrome 2 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... |
OMIM:605275 |
| Pulmonary Alveolar Microlithiasis |
|
Right ventricular failure, Ectopic calcification, Gonadal calcification, Calcification of the aor... |
ORPHA:60025 |
| Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Mitral valve prolapse |
OMIM:614816 |
| Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
| Branchiooculofacial Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Low posterior hairline, Short neck, Facial palsy |
OMIM:113620 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis |
OMIM:260400 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Exaggerated startle response |
OMIM:620451 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypoplastic left heart, Parachute mitral valve, Right-to-left shunt, Tetralogy of Fallot, Atriove... |
OMIM:265380 |
| Dermatomyositis |
|
Vasculitis, Chondrocalcinosis, Heliotrope rash, Sinus tachycardia, Skin rash, Myositis, Arrhythmi... |
ORPHA:221 |
| Marfan Syndrome |
|
Aortic regurgitation, Mitral annular calcification, Congestive heart failure, Tricuspid regurgita... |
OMIM:154700 |
| Von Hippel-Lindau Disease |
|
Cardiomyopathy, Palpitations, Arrhythmia, Myocarditis, Abnormal left ventricular function, Hypert... |
ORPHA:892 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block |
ORPHA:93317 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Abnormal heart morphology, Bicuspid aortic valve, Pyelonephritis |
OMIM:301111 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale |
OMIM:300707 |
| Igg4-Related Kidney Disease |
|
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, Int... |
ORPHA:449395 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Aortic valve stenosis, Bicuspid aortic valve, Mitral regurgitation |
OMIM:613563 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Dystonia, Exaggerated startle response |
OMIM:620423 |
| Blau Syndrome |
|
Posterior uveitis, Keratitis, Large vessel vasculitis, Skin rash, Synovitis, Iridocyclitis, Pulmo... |
ORPHA:90340 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Bicuspi... |
OMIM:618164 |
| Leptospirosis |
|
Hypotension, Uveitis, Hepatitis, Pulmonary hemorrhage, Skin rash, Arrhythmia, Optic neuritis, Fir... |
ORPHA:509 |
| Witteveen-Kolk Syndrome |
|
Intrauterine growth retardation, Branchial fistula |
OMIM:613406 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Hypertensive crisis, Septic arthritis, Pancreatitis, Myocarditis, Hypertension, Acute ... |
ORPHA:544482 |
| Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Hip osteoarthritis, Transient ischemic attack, Knee osteoarthritis, Bicu... |
OMIM:619656 |
| Distal Deletion 15Q |
|
Hypoplastic left heart, Double outlet right ventricle with doubly committed ventricular septal de... |
ORPHA:1596 |
| Craniofacial Microsomia 1 |
|
Branchial anomaly, Occipital encephalocele, Hydrocephalus, Patent ductus arteriosus |
OMIM:164210 |
| Marfan Syndrome |
|
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Mitral valve prolapse, Tric... |
ORPHA:558 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale, Left ventricular hypertrophy... |
OMIM:619127 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Facial palsy |
ORPHA:68 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aortic valve stenosis, Pneumonia, Abnormal heart morphology, Otitis media, Cardiac conduction abn... |
ORPHA:353281 |
| Kikuchi-Fujimoto Disease |
|
Vasculitis, Malar rash, Skin rash, Pustule, Vasculitis in the skin, Myocarditis |
ORPHA:50918 |
| African Trypanosomiasis |
|
Myelitis, Second degree atrioventricular block, Third degree atrioventricular block, Keratitis, C... |
ORPHA:3385 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypertrophic cardiomyopathy, Mitral atresia, Mitral regurgitation, Bicuspid aortic valve, Left ve... |
OMIM:220111 |
| Loeys-Dietz Syndrome 3 |
|
Aortic regurgitation, Ventricular hypertrophy, Hip osteoarthritis, Mitral regurgitation, Mitral v... |
OMIM:613795 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect |
OMIM:613355 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrial septal defect |
OMIM:250220 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Loeys-Dietz Syndrome 2 |
|
Patent foramen ovale, Mitral valve prolapse, Bicuspid aortic valve, Eosinophilic infiltration of ... |
OMIM:610168 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Dystonia, Scoliosis, Exaggerated startle response |
ORPHA:438213 |
| Homozygous Familial Hypercholesterolemia |
|
Myocardial steatosis, Tendon xanthomatosis, Abnormal tendon morphology |
ORPHA:391665 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Scoliosis, Exaggerated startle response |
OMIM:619522 |
| Adams-Oliver Syndrome 5 |
|
Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Right ventricula... |
OMIM:616028 |
| Adams-Oliver Syndrome |
|
Leukopenia, Thrombocytopenia |
ORPHA:974 |
