| Cervical Vertebral Bridge |
|
Abnormality of the vertebral column |
OMIM:118000 |
| Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... |
OMIM:118005 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic regurgitation, Aortic valve stenosis, Aortic valve calcification |
OMIM:114065 |
| Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... |
OMIM:109730 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Immunodeficiency 18 |
|
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
| Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level |
OMIM:233650 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... |
OMIM:615897 |
| Congenital Aortic Valve Stenosis |
|
Endocarditis, Aortic valve atresia, Sudden cardiac death, Abnormal T-wave, Increased QRS voltage,... |
ORPHA:3093 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae |
OMIM:616566 |
| Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... |
OMIM:619924 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
| Vertebral Hypoplasia With Lumbar Kyphosis |
|
Lumbar kyphosis, Vertebral hypoplasia |
OMIM:192900 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... |
OMIM:615513 |
| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Left ventricular hy... |
OMIM:613424 |
| Singleton-Merten Syndrome 2 |
|
Aortic valve stenosis, Aortic valve calcification, Arrhythmia |
OMIM:616298 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
| Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
| Familial Bicuspid Aortic Valve |
|
Heart murmur, Bicuspid aortic valve, Abnormal left ventricular outflow tract morphology, Hyperten... |
ORPHA:402075 |
| Primary Basilar Invagination |
|
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology |
ORPHA:2285 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... |
ORPHA:169079 |
| Osteomesopyknosis |
|
Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... |
OMIM:614980 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Immunodeficiency 19 |
|
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology |
OMIM:615617 |
| Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Growth delay, Splenomegaly |
OMIM:619164 |
| 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 |
| Immunodeficiency 50 |
|
Neutropenia, Lymphopenia, Decreased circulating antibody level |
OMIM:300988 |
| Atrial Septal Defect 9 |
|
Pulmonary arterial hypertension, Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... |
OMIM:619846 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
| Gaucher Disease, Type Iiic |
|
Mitral stenosis, Calcification of the aorta, Cardiomegaly, Aortic valve calcification, Mitral val... |
OMIM:231005 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... |
OMIM:300400 |
| Spondylocamptodactyly Syndrome |
|
Scoliosis, Platyspondyly |
ORPHA:3180 |
| Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... |
OMIM:614493 |
| Acrodysplasia Scoliosis |
|
Spina bifida occulta, Vertebral segmentation defect, Scoliosis |
ORPHA:2956 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia |
OMIM:247800 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
| Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
| Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... |
OMIM:615206 |
| Alkaptonuria |
|
Prostatitis, Arthritis, Calcification of cartilage, Abnormal heart valve morphology, Hypertension... |
ORPHA:56 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... |
OMIM:618204 |
| Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation |
OMIM:615377 |
| Spondylosis, Cervical |
|
Spina bifida occulta, Spondylolysis, Cervical spondylosis, Spondylolisthesis |
OMIM:184300 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial... |
OMIM:601493 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncomp... |
OMIM:612158 |
| Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, Decreased circulating total IgM, T lymphocytopenia, Lymphopeni... |
OMIM:619510 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Mit... |
OMIM:616201 |
| Alkaptonuria |
|
Arthritis, Aortic valve calcification, Mitral valve calcification, Coronary artery calcification |
OMIM:203500 |
| Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:351 |
| Aortic Valve Disease 3 |
|
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect |
OMIM:618496 |
| Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
| Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Short stat... |
OMIM:607271 |
| Central Retinal Vein Occlusion |
|
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... |
ORPHA:411527 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:618719 |
| Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia |
OMIM:608971 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, B lymphocytopenia, T lymphocytopenia, Lymphopenia, Absence of lymph node... |
ORPHA:277 |
| Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615373 |
| Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... |
ORPHA:169154 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, T lymphocytopenia, Perianal abscess, Decreased circulating ant... |
OMIM:618108 |
| Hypoplastic Left Heart Syndrome 1 |
|
Hypoplastic left heart, Aortic valve stenosis |
OMIM:241550 |
| Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... |
ORPHA:75566 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-positive T cell... |
OMIM:300853 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Beaking of vertebral bodies, Irregular vertebral endplates, Schmorl's node, Platyspondyly |
OMIM:604864 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
| Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... |
ORPHA:859 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Hypoplastic left heart, Aortic valve st... |
OMIM:615779 |
| Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... |
OMIM:619374 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... |
OMIM:305390 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Absen... |
OMIM:600802 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral clefting, Vertebral segmentation defect, Hemivertebrae, Short neck |
OMIM:608681 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... |
OMIM:617241 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Intrauterine growth retardation, Pancytopenia, Postnatal growth retardation |
OMIM:600546 |
| Lymphoid Interstitial Pneumonia |
|
Cor pulmonale, Aortic valve stenosis, Lymphocytic interstitial pneumonia |
OMIM:247610 |
| Immunodeficiency 44 |
|
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... |
OMIM:616636 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Short stature, Abnormal cardiac septum morphology, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
| Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, Decreased circulating total IgM, Decreased... |
OMIM:301082 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia |
OMIM:205950 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Agammaglobulinemia, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
| Immunodeficiency 70 |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... |
OMIM:618969 |
| Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... |
OMIM:133780 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... |
OMIM:609813 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Pericardial effusion, Abnormal heart valve morphology, Aortic va... |
ORPHA:77261 |
| Immunodeficiency 68 |
|
Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess |
OMIM:612260 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Mitral valve prolapse, Short ... |
OMIM:314400 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea... |
OMIM:618534 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegaly, Lymp... |
OMIM:242700 |
| Cardiac Valvular Dysplasia 2 |
|
Subvalvular aortic stenosis, Systolic heart murmur, Pulmonary insufficiency, Left ventricular dia... |
OMIM:620067 |
| Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Anemia, Thrombocytopenia, Intrauterine growth retardation |
ORPHA:295 |
| Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... |
ORPHA:3092 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebrae |
ORPHA:2064 |
| Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... |
ORPHA:2041 |
| Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Cor... |
ORPHA:1330 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Intrauterine growt... |
OMIM:615190 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Left Ventricular Noncompaction 1 |
|
Ventricular septal defect, Left ventricular hypertrophy, Noncompaction cardiomyopathy, Left ventr... |
OMIM:604169 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
| Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Splenomegaly, Elevated proportion of CD4-negative, CD8-neg... |
OMIM:601859 |
| Lambert Syndrome |
|
Branchial anomaly, Intrauterine growth retardation |
ORPHA:1296 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Shor... |
OMIM:616005 |
| Eosinophilia, Familial |
|
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Diamond-Blackfan Anemia 16 |
|
Anemia, Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve |
ORPHA:228190 |
| Hutchinson-Gilford Progeria Syndrome |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Left ventricular diastolic dysfunction,... |
ORPHA:740 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... |
ORPHA:35078 |
| Gaucher Disease |
|
Abnormal pericardium morphology, Pulmonary arterial hypertension, Osteomyelitis, Hepatitis, Osteo... |
ORPHA:355 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... |
OMIM:607594 |
| Aortic Valve Disease 2 |
|
Patent foramen ovale, Bicuspid aortic valve, Calcification of the aorta, Aortic regurgitation, Mi... |
OMIM:614823 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia, Dilated cardiomyopathy |
OMIM:611283 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Panhypogammaglobulinemia, T lymphocytopenia, Lack of T cell function, Decreased lymphocyte prolif... |
ORPHA:572 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Short stature, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Grow... |
OMIM:615631 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
| Eales Disease |
|
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... |
ORPHA:40923 |
| 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 |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... |
ORPHA:331206 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pulmonary arterial hypertension, Bacterial endocarditis, Spontaneous, recurrent epistaxis, Calcif... |
ORPHA:2072 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Pulmonary arterial hypertension, Bicuspid aortic valve, Hypertension, Atrial septal defect |
OMIM:613355 |
| Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve |
OMIM:604381 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Immunodeficiency 40 |
|
T lymphocytopenia, Reduced antigen-specific T cell proliferation, Eosinophilic granuloma, Growth ... |
OMIM:616433 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia, Short stature, Decreased circulating IgA le... |
OMIM:242860 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
| Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis |
ORPHA:2724 |
| Immunodeficiency 96 |
|
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... |
OMIM:619774 |
| Immunodeficiency 17 |
|
Chronic decreased cirulating IgG2, T lymphocytopenia, Abnormal B cell morphology, Decreased propo... |
OMIM:615607 |
| Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Short stature, Lymphadenop... |
OMIM:609981 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, Decreased propor... |
OMIM:606367 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test, Short stature, Post... |
OMIM:615925 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia, Intrauterine growt... |
OMIM:615966 |
| Atypical Werner Syndrome |
|
Chondrocalcinosis, Mitral valve prolapse, Congestive heart failure, Hypertension, Subcutaneous ca... |
ORPHA:79474 |
| Malignant Atrophic Papulosis |
|
Constrictive pericarditis, Gastrointestinal hemorrhage |
OMIM:602248 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Autoimmune thrombocytopen... |
OMIM:613011 |
| Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cell... |
ORPHA:443811 |
| Congenital Gerbode Defect |
|
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa... |
ORPHA:99095 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Pericarditis, Malar rash, Arthritis |
OMIM:609939 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... |
ORPHA:276 |
| X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
| Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... |
ORPHA:563 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Atrial septal defect, Recurrent skin infections |
OMIM:617744 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Decreased circulating antibody level, Pancytopenia, Abnormally low T cell receptor excision circl... |
OMIM:619767 |
| Diamond-Blackfan Anemia 9 |
|
Anemia, Growth delay |
OMIM:613308 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Singleton-Merten Syndrome 1 |
|
Subvalvular aortic stenosis, Aortic arch calcification, Congestive heart failure, Aortic valve st... |
OMIM:182250 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Decreased circulating total IgM, Increased circulating IgE lev... |
OMIM:243700 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Neonatal death, Hepatosplenomegaly |
OMIM:273680 |
| Rheumatic Fever |
|
Endocarditis, Abnormal mitral valve morphology, Arthritis, Abnormal aortic valve morphology, Peri... |
ORPHA:3099 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Short statur... |
OMIM:613673 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Double outlet right ventricle, Bicuspid aortic valve |
OMIM:618845 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Immunodeficiency 55 |
|
Short stature, Lymphopenia, Lymphadenopathy, Intrauterine growth retardation, Neutropenia, Absent... |
OMIM:617827 |
| Vitreoretinochoroidopathy |
|
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Abnormality o... |
OMIM:193220 |
| Stiff Skin Syndrome |
|
Bicuspid aortic valve |
OMIM:184900 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthritis, Constrictive pericarditis |
OMIM:208250 |
| Sneddon Syndrome |
|
Hypertension, Bicuspid aortic valve, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
| Aorta Coarctation |
|
Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ... |
ORPHA:1457 |
| Systemic Lupus Erythematosus |
|
Malar rash, Arthritis, Nephritis, Pericarditis, Lupus nephritis |
OMIM:152700 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
| Aortic Arch Interruption |
|
Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary window, Truncus... |
ORPHA:2299 |
| Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the spleen, Abnormality of the ovary, Decreased pr... |
ORPHA:543 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia |
OMIM:206100 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Reduction of neutrophil motility, Abnormally low T ... |
OMIM:608203 |
| Laubry-Pezzi Syndrome |
|
Elevated pulmonary artery pressure, Patent foramen ovale, Right ventricular outlet tract obstruct... |
ORPHA:99094 |
| Immunodeficiency 22 |
|
Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating IgA lev... |
OMIM:615758 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Bicuspid aortic valve, Arthritis |
OMIM:619825 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:616501 |
| Acute Erythroid Leukemia |
|
Erythroid hypoplasia, Leukopenia, Anemia, Pancytopenia |
ORPHA:318 |
| Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
| Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve |
OMIM:618955 |
| Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent... |
ORPHA:1686 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Anemia, Panhypogammaglobulinemia, T lymphocytopenia, Pancytop... |
ORPHA:79124 |
| Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
| Yao Syndrome |
|
Ventricular hypertrophy, Inflammatory abnormality of the skin, Skin rash, Arthritis, Keratoconjun... |
OMIM:617321 |
| Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
| Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Short stature, Decreased circulating IgG2 level, Acu... |
OMIM:208900 |
| Diamond-Blackfan Anemia 20 |
|
Anemia, Erythroid hypoplasia, Total anomalous pulmonary venous return |
OMIM:618313 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
| Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
| Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence of pericardium, Atrial sept... |
ORPHA:2847 |
| Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
| Immune-Mediated Necrotizing Myopathy |
|
Skin rash, Raynaud phenomenon, Congestive heart failure, Myositis, Palpitations, Myocarditis |
ORPHA:206569 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Mitral valve prolapse, Pericarditis, Mitral regurgitation, Osteoarthritis of the elbow, Increased... |
ORPHA:2848 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Scoliosis, Kyphosis |
OMIM:609541 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia, Intrauterine growth retardation |
OMIM:618838 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Thrombocytopenia |
OMIM:187800 |
| Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve |
OMIM:300997 |
| Rat-Bite Fever |
|
Endocarditis, Septic arthritis, Lymphadenitis, Oligoarthritis, Maculopapular exanthema, Erythema ... |
ORPHA:31205 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Mild postnatal growth retardation, Erythroid hyperplasia, Reticulocytosis, Macr... |
OMIM:224120 |
| X-Linked Mandibulofacial Dysostosis |
|
Webbed neck, Branchial anomaly |
ORPHA:1131 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pericarditis, Skin rash, Anterior uveitis, Juvenile rheumatoid arthritis |
ORPHA:85414 |
| Lessel-Kreienkamp Syndrome |
|
Patent foramen ovale, Pulmonic stenosis, Bicuspid aortic valve, Atrial septal defect |
OMIM:619149 |
| Polymyositis |
|
Abnormal atrioventricular conduction, Abnormal mitral valve morphology, Arthritis, Dilated cardio... |
ORPHA:732 |
| Dohle Bodies And Leukemia |
|
Leukocyte inclusion bodies, Acute myeloid leukemia, Secundum atrial septal defect, Anemia |
OMIM:223350 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation, Decreased testicular size, Hypoplasia of the ovary, Decreased propor... |
ORPHA:66628 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Eczema, Recurrent otitis ... |
ORPHA:500159 |
| American Trypanosomiasis |
|
Skin rash, Congestive heart failure, Arrhythmia, Infectious encephalitis, Myocarditis, Cardiomyop... |
ORPHA:3386 |
| Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
| Microscopic Polyangiitis |
|
Episcleritis, Skin rash, Arthritis, Congestive heart failure, Uveitis, Pericarditis, Epistaxis, S... |
ORPHA:727 |
| Thymic Aplasia |
|
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Coombs-positive hem... |
ORPHA:83471 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Hepatitis, Cardiac arrest, Thyroiditis, Skin rash, Interstitial pne... |
ORPHA:139402 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Hydrocephalus, Pericarditis, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Growth delay, Hypochromia, Splenomegaly |
OMIM:615234 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation, Decreased testicular size, Hypoplasia of the ovary, Decreased propor... |
ORPHA:179494 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Atrioventricular canal defect, Bicuspid aortic valve, Abnormal aortic valve morphology, Atrial se... |
ORPHA:1120 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Endocarditis, Abnormal pericardium morphology, Tubulointerstitial nephritis, Transient ischemic a... |
ORPHA:183 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Eczema, Recurrent otitis media, Recurrent pneum... |
OMIM:617751 |
| Polyarteritis Nodosa |
|
Pericarditis, Raynaud phenomenon, Hypertension, Cardiomyopathy |
ORPHA:767 |
| Systemic Capillary Leak Syndrome |
|
Hypotension, Pericarditis, Arrhythmia, Myocarditis, Pancreatitis |
ORPHA:188 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension |
ORPHA:401923 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Pulmonary valve atresia, Ventricu... |
ORPHA:210122 |
| Vici Syndrome |
|
Leukopenia, Decreased T cell activation, T lymphocytopenia, Decreased circulating IgG2 level, Lym... |
OMIM:242840 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve |
OMIM:619318 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol... |
ORPHA:284169 |
| Scedosporiosis |
|
Endocarditis, Septic arthritis, Osteomyelitis, Ectopic calcification, Pericarditis, Sinusitis, Pn... |
ORPHA:449280 |
| Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
ORPHA:50815 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Lumbar hyperlordosis |
ORPHA:3198 |
| Drug-Induced Lupus Erythematosus |
|
Malar rash, Pericardial effusion, Pericarditis, Serositis, Prolonged QTc interval |
ORPHA:231111 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... |
OMIM:616860 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst |
ORPHA:435938 |
| Scrub Typhus |
|
Hypotension, Skin rash, Infectious encephalitis, Myocarditis, Anterior uveitis |
ORPHA:83317 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Neonatal death, Intrauterine growth retardation, Cardiomyopathy |
OMIM:618839 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Anemia, Neonatal death, Intrauterine growth retardation |
OMIM:618835 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Catastrophic Antiphospholipid Syndrome |
|
Pulmonary arterial hypertension, Pulmonary embolism, Arterial occlusion, Transient ischemic attac... |
ORPHA:464343 |
| Heart Block, Congenital |
|
Myocardial calcification, Cardiomyopathy, Absent atrioventricular node, Myocardial fibrosis |
OMIM:234700 |
| Branchiootic Syndrome |
|
Branchial fistula, Facial palsy |
ORPHA:52429 |
| Adult-Onset Still Disease |
|
Hepatitis, Skin rash, Arthritis, Pericarditis, Myocarditis |
ORPHA:829 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Pulmonary insufficiency, Bicuspid aortic valve, Mitral valve prolapse, Aortic regurgitation, Mitr... |
ORPHA:555877 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Bicuspid aortic valve, Abnormal left ventricular function |
OMIM:132900 |
| Sick Sinus Syndrome 2 |
|
Mitral valve prolapse, Left ventricular hypertrophy, Left ventricular noncompaction |
OMIM:163800 |
| Bacterial Toxic-Shock Syndrome |
|
Hypotension, Septic arthritis, Osteomyelitis, Hepatitis, Skin rash, Fasciitis, Arthritis, Periton... |
ORPHA:36234 |
| Relapsing Polychondritis |
|
Conjunctivitis, Recurrent aphthous stomatitis, Scleritis, Large vessel vasculitis, Arthritis, Inf... |
ORPHA:728 |
| Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Reticulocytosis, Bone marrow hypocellularity, Eosinophilia, Dec... |
ORPHA:3261 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Scoliosis |
ORPHA:320406 |
| Antisynthetase Syndrome |
|
Pulmonary arterial hypertension, Skin rash, Keratoconjunctivitis sicca, Myositis, Aortic regurgit... |
ORPHA:81 |
| Bor Syndrome |
|
Branchial cyst, Facial palsy |
ORPHA:107 |
| Legionnaires Disease |
|
Endocarditis, Hypotension, Hepatitis, Pericarditis, Arrhythmia, Infectious encephalitis, Myocardi... |
ORPHA:549 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Hypoplastic left heart, Bicuspid aortic valve, Eczema, Atrial septal defect |
OMIM:619721 |
| Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect |
OMIM:617450 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Decreased response to growth hormone stimulation test, T lymphocytopeni... |
OMIM:618223 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Branchial anomaly, Abnormal autonomic nervous system physiology, Increased nuchal translucency, I... |
ORPHA:453499 |
| Scleroderma |
|
Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Myelitis, Osteomyelitis, Gastroin... |
ORPHA:801 |
| Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Facial palsy |
OMIM:113650 |
| Coffin-Siris Syndrome 7 |
|
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect, Recurrent otitis media |
OMIM:618027 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, Decreased circulating total IgM, Decreased lymphocyte proliferation in respons... |
ORPHA:508533 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
| Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Persistent fetal circulation, Ventricular septal defect, Pericar... |
ORPHA:363705 |
| Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Bicuspid aortic valve, Abnormal cardiac septum morphology |
OMIM:615009 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased circulating total IgM, Reduced natural killer cell acti... |
OMIM:301000 |
| Cantu Syndrome |
|
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve |
OMIM:239850 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Short stature, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased m... |
ORPHA:98870 |
| Holoprosencephaly |
|
Spinal dysraphism, Encephalocele, Branchial anomaly, Optic atrophy, Hydrocephalus, Holoprosenceph... |
ORPHA:2162 |
| Whipple Disease |
|
Hypotension, Arthritis, Uveitis, Pericarditis, Myositis, Myocardial infarction, Gastrointestinal ... |
ORPHA:3452 |
| Grange Syndrome |
|
Bicuspid aortic valve, Coronary artery stenosis, Renovascular hypertension |
OMIM:602531 |
| Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve |
OMIM:614900 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Felty Syndrome |
|
Rhinitis, Arthritis, Synovitis, Pericarditis, Recurrent pneumonia, Sinusitis, Episcleritis, Chron... |
ORPHA:47612 |
| Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Reticulocytosis, P... |
ORPHA:288 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Short stature, Neoplasm of the pancreas, Delayed puberty, Microcytic anemia |
ORPHA:2959 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Short stature |
OMIM:617243 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Short stature, Neutropenia in presence of anti-neutropil an... |
ORPHA:391487 |
| Q Fever |
|
Endocarditis, Maculopapular exanthema, Osteomyelitis, Pericardial effusion, Hepatitis, Pericardit... |
ORPHA:781 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... |
ORPHA:371428 |
| Hengel-Maroofian-Schols Syndrome |
|
Bicuspid aortic valve |
OMIM:619641 |
| Mixed Connective Tissue Disease |
|
Pulmonary arterial hypertension, Skin rash, Arthritis, Keratoconjunctivitis sicca, Pericarditis, ... |
ORPHA:809 |
| Congenital Enterovirus Infection |
|
Hypotension, Pericardial effusion, Skin rash, Hepatitis, Infectious encephalitis, Myocarditis, Ca... |
ORPHA:292 |
| Nijmegen Breakage Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Short stature, Autoimmune hemolytic anemia, Dysgammaglobuli... |
OMIM:251260 |
| Long Qt Syndrome 15 |
|
Left ventricular noncompaction |
OMIM:616249 |
| Weiss-Kruszka Syndrome |
|
Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V... |
OMIM:618619 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... |
OMIM:608643 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus, Lumbar hyperlordosis |
OMIM:184850 |
| Thymic Tumor |
|
Pericarditis, Cardiac arrest |
ORPHA:100100 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
T lymphocytopenia, Short stature, Lymphopenia, Autoimmune thrombocytopenia, Lymphadenopathy, Neut... |
OMIM:607944 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent foramen ovale, Ventricular septal defect, Coronary artery fistula, Bicuspid aortic valve, ... |
OMIM:619343 |
| Blau Syndrome |
|
Erythema nodosum, Iritis, Arthritis, Synovitis, Eczema, Uveitis, Hypertension, Pericarditis, Nong... |
OMIM:186580 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
ORPHA:329224 |
| Kawasaki Disease |
|
Conjunctivitis, Hepatitis, Skin rash, Arthritis, Abnormal heart valve morphology, Congestive hear... |
ORPHA:2331 |
| Baraitser-Winter Syndrome 1 |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:243310 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization, Hearing impairment |
OMIM:619074 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Systemic Sclerosis |
|
Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Gastrointestinal telangiectasia, ... |
ORPHA:90291 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Patent ductus arteriosus, Webbed neck, Hydrocephalus, Low posterior hairline, Optic disc coloboma... |
ORPHA:261337 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... |
ORPHA:477817 |
| Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve |
OMIM:616367 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, Reduced natural killer cell count, T lymphocytopenia, Decreased circulating total IgM, De... |
OMIM:619381 |
| Simple Cryoglobulinemia |
|
Arthritis, Raynaud phenomenon, Membranoproliferative glomerulonephritis, Congestive heart failure... |
ORPHA:91139 |
| Oligomeganephronia |
|
Branchial cyst, Optic disc coloboma |
ORPHA:2260 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Microsporidiosis |
|
Endocarditis, Lymphadenitis, Rhinitis, Osteomyelitis, Prostatitis, Keratoconjunctivitis, Hepatiti... |
ORPHA:2552 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Increased nuchal translucency, Branchial anomaly, Cystic hygroma, Optic nerve hypoplasia |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Increased nuchal translucency, Branchial anomaly, Cystic hygroma, Optic nerve hypoplasia |
ORPHA:352665 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Conjunctivitis, Skin rash, Fasciitis, Arthritis, Uveitis, Erysipelas, Pericarditis, Myositis, Orc... |
ORPHA:32960 |
| Behçet Disease |
|
Keratoconjunctivitis sicca, Pericarditis, Myositis, Retrobulbar optic neuritis, Endocarditis, Pul... |
ORPHA:117 |
| Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Atrial septal defect, Mi... |
OMIM:121050 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Bicuspid aortic valve, Mitral regurgitation |
OMIM:617168 |
| Juvenile Dermatomyositis |
|
Mucosal telangiectasiae, Skin rash, Arthritis, Telangiectasia of the skin, Vasculitis, Angina pec... |
ORPHA:93672 |
| Squalene Synthase Deficiency |
|
Bicuspid aortic valve |
OMIM:618156 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Intrauterine growth retardation, Truncus arteriosus |
ORPHA:261330 |
| Reactive Arthritis |
|
Conjunctivitis, Recurrent aphthous stomatitis, Osteomyelitis, Enthesitis, Arthritis, Pericarditis... |
ORPHA:29207 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Intracranial hemorrhage, Congestive heart failure, Hypertension, Mitral ... |
ORPHA:363618 |
| Aicardi-Goutieres Syndrome 9 |
|
Pericardial effusion, Chilblains, Left ventricular hypertrophy, Hypertension, Cerebral calcificat... |
OMIM:619487 |
| Zygomycosis |
|
Endocarditis, Enterocolitis, Hepatitis, Fasciitis, Peritonitis, Nephritis, Pericarditis, Epistaxi... |
ORPHA:73263 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Beaking of vertebral bodies T12-L3, Hypoplastic vertebral bodies, P... |
ORPHA:79255 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
| Brucellosis |
|
Endocarditis, Sacroiliac arthritis, Septic arthritis, Osteomyelitis, Hip osteoarthritis, Transien... |
ORPHA:1304 |
| Meacham Syndrome |
|
Ventricular septal defect, Cardiac total anomalous pulmonary venous connection, Common atrium, Bi... |
OMIM:608978 |
| Isotretinoin-Like Syndrome |
|
Conotruncal defect, Bicuspid aortic valve, Aortic valve stenosis, Abnormal cardiac ventricle morp... |
ORPHA:2306 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
| Listeriosis |
|
Endocarditis, Septic arthritis, Conjunctivitis, Osteomyelitis, Infectious encephalitis, Pyeloneph... |
ORPHA:533 |
| Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Double outlet right ventricle, Ventricular septal defect |
OMIM:616652 |
| Colchicine Poisoning |
|
Hypotension, Hypovolemia, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis |
ORPHA:31824 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Bicuspid aortic valve, Atrial septal defect |
OMIM:619720 |
| Shigellosis |
|
Conjunctivitis, Arthritis, Ulcerative colitis, Uveitis, Hypovolemic shock, Pneumonia, Peritonitis... |
ORPHA:810 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abn... |
ORPHA:457279 |
| Treacher-Collins Syndrome |
|
Patent ductus arteriosus, Branchial fistula, Encephalocele |
ORPHA:861 |
| Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Pericardial effusion, Abnormal left ventricular function, Subdural h... |
ORPHA:99827 |
| Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, Mitral valve prolapse, Eosinophilic infiltration of the esophagus |
OMIM:614816 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Maculopapular exanthema, Rhinitis, Fulminant hepatitis, Skin rash, Subconjunctival h... |
ORPHA:319213 |
| Familial Mediterranean Fever |
|
Skin rash, Arthritis, Erysipelas, Pericarditis, Myocardial infarction, Arrhythmia, Peritonitis, O... |
ORPHA:342 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Exaggerated startle response, Tremor |
OMIM:618056 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Arterial Tortuosity Syndrome |
|
Cardiac arrest, Dilated cardiomyopathy, Congestive heart failure, Hypertension, Hypertrophic card... |
ORPHA:3342 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Ischemic stroke, Hypovolemia, Transient ischemic attack, Bicuspid aortic valve, Hypertension, Aor... |
ORPHA:91387 |
| Giant Cell Arteritis |
|
Sudden cardiac death, Cerebral ischemia, Arthritis, Pericarditis, Epistaxis, Arrhythmia, Double o... |
ORPHA:397 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Visceral Steatosis, Congenital |
|
Myocardial steatosis |
OMIM:228100 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal neovascularization, Retinal cotton wool spot, Macular edema, Abnormal retinal vascular mo... |
ORPHA:247691 |
| Nocardiosis |
|
Endocarditis, Lymphadenitis, Conjunctivitis, Osteomyelitis, Scleritis, Thyroiditis, Peritonitis, ... |
ORPHA:31204 |
| Granulomatosis With Polyangiitis |
|
Prostatitis, Cerebral ischemia, Skin rash, Inflammatory abnormality of the eye, Angina pectoris, ... |
ORPHA:900 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
| Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Arrhythmia, Tetralogy of Fallot, Chronic otitis... |
ORPHA:261494 |
| Adams-Oliver Syndrome 1 |
|
Pulmonary arterial hypertension, Ventricular septal defect, Bicuspid aortic valve, Hypertension, ... |
OMIM:100300 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Eczema, Atrial septal defect, Pulmonic stenosis |
OMIM:610443 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Spinal rigidity, Exaggerated startle response, Scoliosis |
OMIM:253800 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:614501 |
| X Small Rings |
|
Mitral stenosis, Bicuspid aortic valve, Ventricular septal defect |
ORPHA:96201 |
| Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac septum morphology |
ORPHA:96169 |
| Dermatomyositis |
|
Pulmonary arterial hypertension, Sinus tachycardia, Arthritis, Telangiectasia of the skin, Perica... |
ORPHA:221 |
| Scorpion Envenomation |
|
T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segment depression... |
ORPHA:466677 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:610759 |
| Progeroid Short Stature With Pigmented Nevi |
|
Aortic valve stenosis, Allergic conjunctivitis, Bicuspid aortic valve, Allergic rhinitis |
OMIM:176690 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia, Kyphosis |
ORPHA:521426 |
| 8Q24.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Optic nerve hypoplasia, Spina bifida occulta, Short... |
ORPHA:508488 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... |
OMIM:245600 |
| Familial Mediterranean Fever |
|
Crohn's disease, Arthritis, Erysipelas, Pericarditis, Orchitis, Peritonitis |
OMIM:249100 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
| Coccidioidomycosis |
|
Osteomyelitis, Cerebral ischemia, Folliculitis, Erythema nodosum, Skin rash, Arthritis, Morbillif... |
ORPHA:228123 |
| Syndromic Diarrhea |
|
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Aortic regurgitation, Gas... |
ORPHA:84064 |
| Hunter-Macdonald Syndrome |
|
Bicuspid aortic valve, Mitral valve prolapse, Hypertension, Aortic regurgitation, Premature osteo... |
OMIM:611962 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve |
OMIM:618529 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Patent foramen ovale, Pulmonary v... |
OMIM:265380 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
| Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect |
OMIM:130720 |
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