| Cervical Vertebral Bridge |
|
Abnormality of the vertebral column |
OMIM:118000 |
| Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Abnormal vertebral morphology |
OMIM:615709 |
| Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... |
OMIM:118005 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic regurgitation, Aortic valve stenosis, Aortic valve calcification |
OMIM:114065 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
| Scoliosis, Isolated, Susceptibility To, 1 |
|
Scoliosis |
OMIM:181800 |
| Storm Syndrome |
|
Myxomatous mitral valve degeneration, Mitral valve prolapse, Mitral valve calcification, Mitral s... |
OMIM:185069 |
| Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
| Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Abnormal left ventricular function, Reduced ejection fraction, Angina pectoris, ... |
ORPHA:3093 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis |
OMIM:616566 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
| Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
| Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
| Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Growth delay, Decreased circulating antibody level, Anemia, Lymphopenia, Throm... |
ORPHA:169079 |
| Vertebral Hypoplasia With Lumbar Kyphosis |
|
Lumbar kyphosis, Vertebral hypoplasia |
OMIM:192900 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... |
OMIM:615513 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
| Familial Bicuspid Aortic Valve |
|
Bicuspid aortic valve, Hypertension, Aortic regurgitation, Abnormal left ventricular outflow trac... |
ORPHA:402075 |
| Reticular Dysgenesis |
|
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... |
OMIM:267500 |
| Primary Basilar Invagination |
|
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology |
ORPHA:2285 |
| Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular noncompaction, Left ventricu... |
OMIM:613424 |
| Osteomesopyknosis |
|
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body |
ORPHA:2777 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... |
OMIM:617912 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... |
OMIM:614980 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Immunodeficiency 76 |
|
B lymphocytopenia, Growth delay, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
| Spondylocamptodactyly Syndrome |
|
Scoliosis, Platyspondyly |
ORPHA:3180 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia |
OMIM:200900 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Intrauterine growth retardation, Anemia |
ORPHA:2802 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level, Neutropenia, Lymphopenia |
OMIM:300988 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis |
OMIM:618496 |
| Gaucher Disease, Type Iiic |
|
Mitral valve calcification, Cardiomegaly, Mitral stenosis, Aortic valve calcification, Calcificat... |
OMIM:231005 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
| Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... |
OMIM:312863 |
| Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
| Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... |
OMIM:614493 |
| Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Scoliosis, Spina bifida occulta |
ORPHA:2956 |
| Alkaptonuria |
|
Hypertension, Mitral valve calcification, Prostatitis, Coronary artery calcification, Arthritis, ... |
ORPHA:56 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy |
OMIM:601494 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Atrial Fibrillation, Familial, 13 |
|
Left atrial enlargement, Paroxysmal atrial fibrillation, Aortic valve stenosis |
OMIM:615377 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... |
OMIM:300400 |
| Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly |
OMIM:184095 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,... |
OMIM:616201 |
| Spondylosis, Cervical |
|
Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis |
OMIM:184300 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lack of T cell function, Increased circulating IgE level, Lymphopenia, T lymph... |
ORPHA:277 |
| Aortic Valve Disease 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... |
OMIM:109730 |
| Immunodeficiency 85 And Autoimmunity |
|
Growth delay, Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural k... |
OMIM:619510 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Endocardial fibroelastosis, Cardiomyocyte hypertrop... |
OMIM:612158 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology |
OMIM:615373 |
| Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia |
OMIM:616941 |
| Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Platyspondyly, Increased vertebral height |
ORPHA:93304 |
| Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:351 |
| Alkaptonuria |
|
Coronary artery calcification, Arthritis, Mitral valve calcification, Aortic valve calcification |
OMIM:203500 |
| Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... |
OMIM:610163 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:618719 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia |
OMIM:601457 |
| Immunodeficiency 13 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
| Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... |
ORPHA:411527 |
| Hypoplastic Left Heart Syndrome 1 |
|
Hypoplastic left heart, Aortic valve stenosis |
OMIM:241550 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Increased circulating IgA level, Lymphadenopathy, Decreased lymphocyte proliferation... |
ORPHA:169154 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... |
OMIM:305390 |
| Hypoplastic Left Heart Syndrome 2 |
|
Mitral atresia, Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia |
OMIM:614435 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Supernume... |
OMIM:609813 |
| Caspase 8 Deficiency |
|
Short stature, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level,... |
OMIM:607271 |
| Loeffler Endocarditis |
|
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Abnormal morph... |
ORPHA:75566 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Beaking of vertebral bodies, Platyspondyly, Schmorl's node, Irregular vertebral endplates |
OMIM:604864 |
| Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Decreased circulating antibody level, Reduced natural killer cell count, Peria... |
OMIM:618108 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Lymphadenopathy, De... |
OMIM:300853 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart, Tetralogy of Fa... |
OMIM:615779 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
| Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
| Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis |
OMIM:617222 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Transcobalamin Deficiency |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... |
OMIM:193235 |
| Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... |
ORPHA:891 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... |
OMIM:600802 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral clefting, Short neck, Vertebral segmentation defect, Hemivertebrae |
OMIM:608681 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... |
OMIM:618986 |
| Hemoglobin E Disease |
|
Hypochromia, Intrauterine growth retardation, Hypochromic microcytic anemia, Increased red blood ... |
ORPHA:2133 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
| Lymphoid Interstitial Pneumonia |
|
Cor pulmonale, Aortic valve stenosis, Lymphocytic interstitial pneumonia |
OMIM:247610 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Pancytopenia, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Short stature, Anemia, Abnormal hemoglobin, Abnormal cardiac septum morphology, Thrombocytopenia |
ORPHA:3319 |
| Gaucher Disease Type 3 |
|
Pericardial effusion, Mitral valve calcification, Pulmonary arterial hypertension, Abnormal heart... |
ORPHA:77261 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... |
OMIM:617241 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular hypert... |
OMIM:604169 |
| Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... |
OMIM:133780 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... |
OMIM:277300 |
| Immunodeficiency 70 |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... |
OMIM:618969 |
| Subaortic Stenosis, Membranous |
|
Subvalvular aortic stenosis |
OMIM:271950 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... |
OMIM:613426 |
| Immunodeficiency 68 |
|
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
| Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Increased ci... |
OMIM:618534 |
| Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Tetralogy of Fallot w... |
OMIM:108800 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, Short chordae tendineae of th... |
OMIM:314400 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Thrombocytopenia, Intrauterine growth retardation, Anemia |
ORPHA:295 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Erythroid hyperplasia, Short stature, Anemia, Splenomegaly, Reticulo... |
OMIM:613673 |
| Retinal Venous Beading |
|
Retinal infarction, Hearing impairment, Retinal neovascularization, Vitreous hemorrhage, Abnormal... |
OMIM:180080 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... |
OMIM:611926 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies, Sacral dimple |
ORPHA:2064 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Bacterial endocarditis, Syncope, Partial atrioventricular canal defect, Mi... |
ORPHA:1330 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Syncope, Abnormal le... |
ORPHA:2041 |
| Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve |
OMIM:300049 |
| Immunodeficiency 55 |
|
Intrauterine growth retardation, Neutropenia, Short stature, Lymphadenopathy, Postnatal growth re... |
OMIM:617827 |
| Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level |
OMIM:616873 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Syncope, Mitral regurgi... |
ORPHA:3092 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Intrauterine growth retardation, Leukopenia, Decreased circulating antibody level, Bone marrow hy... |
OMIM:615190 |
| Aortic Valve Disease 2 |
|
Calcification of the aorta, Bicuspid aortic valve |
OMIM:614823 |
| Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Follicular hype... |
OMIM:601859 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, T lymphocytopenia, Increased circulating IgE level |
ORPHA:217390 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
| Lambert Syndrome |
|
Branchial anomaly, Intrauterine growth retardation |
ORPHA:1296 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Atrial septal defect |
OMIM:615981 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Bicuspid aortic valve |
OMIM:615599 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve |
ORPHA:228190 |
| Eosinophilia, Familial |
|
Leukocytosis, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia, Eosinophilia |
OMIM:131400 |
| Hutchinson-Gilford Progeria Syndrome |
|
Hypertension, Intracranial hemorrhage, Mitral valve calcification, Abnormal mitral valve morpholo... |
ORPHA:740 |
| Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropenia in presence... |
OMIM:607594 |
| Gaucher Disease |
|
Mitral valve calcification, Hepatitis, Pulmonary arterial hypertension, Osteomyelitis, Abnormal h... |
ORPHA:355 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Anemia, Pulmonic stenosis |
OMIM:617408 |
| Osteogenesis Imperfecta, Type Vi |
|
Biconcave vertebral bodies, Vertebral compression fracture, Beaking of vertebral bodies |
OMIM:613982 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... |
ORPHA:35078 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neu... |
ORPHA:572 |
| Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Erythroid hyperplasia, Short stature, Anemia, Splenomegaly, Anisocytosis, Poikilocy... |
OMIM:615631 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Anemia |
OMIM:611283 |
| Eales Disease |
|
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... |
ORPHA:40923 |
| Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Growth delay, Short stature, Decreased circulating antibody level, Sp... |
OMIM:616005 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Bacterial endocarditis, Mitral valve calcification, Pulmonary arterial hypertension, Spontaneous,... |
ORPHA:2072 |
| Fanconi Anemia, Complementation Group J |
|
Intrauterine growth retardation, Postnatal growth retardation, Bone marrow hypocellularity |
OMIM:609054 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis, Decreased circulating IgG ... |
ORPHA:331206 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Pulmonary arterial hypertension, Hypertension |
OMIM:613355 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Growth delay, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
| Pericardial Effusion, Chronic |
|
Constrictive pericarditis, Pericardial effusion |
OMIM:260900 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve |
OMIM:604381 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Short stature, Decreased circulating IgA level, Reduced natural killer cell count, Increased circ... |
OMIM:242860 |
| Singleton-Merten Syndrome 1 |
|
Aortic arch calcification, Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis,... |
OMIM:182250 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Truncus arteriosus, Transposition of the great arteries |
OMIM:612474 |
| Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis |
ORPHA:2724 |
| Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, B lymphocytopenia, Decreased circulating IgA level, Lymphadenopathy, Decreased ... |
OMIM:606367 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... |
ORPHA:766 |
| Immunodeficiency 54 |
|
Intrauterine growth retardation, Short stature, Lymphadenopathy, Splenomegaly, Reduced natural ki... |
OMIM:609981 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Ataxia-Telangiectasia |
|
Short stature, Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defective B c... |
OMIM:208900 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Hypertension, Perimembranous ventricular septal defect, Cardiomegaly, Pulm... |
ORPHA:1457 |
| X-Linked Lymphoproliferative Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... |
ORPHA:2442 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Mild postnatal growth retardation, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocyto... |
OMIM:224120 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Lymph node hypoplasia, Decreased circulating IgA level, Ab... |
ORPHA:276 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
| Malignant Atrophic Papulosis |
|
Constrictive pericarditis, Gastrointestinal hemorrhage |
OMIM:602248 |
| Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... |
ORPHA:563 |
| Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test, Postnatal growth re... |
OMIM:615925 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating antibody leve... |
OMIM:613011 |
| Congenital Gerbode Defect |
|
Right ventricular failure, Constrictive pericarditis, Ventricular septal defect, Bacterial endoca... |
ORPHA:99095 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia, Neonatal death |
OMIM:273680 |
| Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
| Atypical Werner Syndrome |
|
Hypertension, Chondrocalcinosis, Mitral valve prolapse, Telangiectasia of the skin, Subcutaneous ... |
ORPHA:79474 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... |
OMIM:252011 |
| Diamond-Blackfan Anemia 9 |
|
Anemia, Growth delay |
OMIM:613308 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia |
OMIM:133180 |
| Rheumatic Fever |
|
Myocarditis, Sinusitis, Pericarditis, Endocarditis, Abnormal aortic valve morphology, Abnormal mi... |
ORPHA:3099 |
| Vitreoretinochoroidopathy |
|
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... |
OMIM:193220 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart |
OMIM:618845 |
| Stiff Skin Syndrome |
|
Bicuspid aortic valve |
OMIM:184900 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:615285 |
| Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Malar rash, Pericarditis, Arthritis |
OMIM:609939 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Constrictive pericarditis, Arthritis |
OMIM:208250 |
| Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
| Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Mildly reduced ejection fraction, Aortic valve ... |
ORPHA:99094 |
| Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Nephritis, Arthritis, Malar rash |
OMIM:152700 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the lymph nodes, Decreased proportion of CD4-positive h... |
ORPHA:543 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Scoliosis, Exaggerated startle response, Kyphosis |
OMIM:609541 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Intermittent claudication, Aortic va... |
ORPHA:2299 |
| Fanconi Anemia, Complementation Group T |
|
Pancytopenia, Thrombocytopenia, Anemia, Short stature |
OMIM:616435 |
| Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia, Atrial septal defect |
ORPHA:51208 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Co... |
ORPHA:1686 |
| Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
| Anemia, Sideroblastic, 1 |
|
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... |
OMIM:300751 |
| Acute Erythroid Leukemia |
|
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia |
ORPHA:318 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Absence of lymph node germinal center, Anemia, Hepatosplenomegaly, Panhypogammaglobulinemia, Decr... |
ORPHA:79124 |
| Yao Syndrome |
|
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Ventricular hyper... |
OMIM:617321 |
| Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve |
OMIM:618955 |
| Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Palpitations, Abnormal heart morphology, Mitral stenosis, Atrial septal de... |
ORPHA:2847 |
| Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
| Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Bone marrow hypocellul... |
ORPHA:101096 |
| Diamond-Blackfan Anemia 20 |
|
Total anomalous pulmonary venous return, Anemia, Erythroid hypoplasia |
OMIM:618313 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:616501 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
| Immune-Mediated Necrotizing Myopathy |
|
Myocarditis, Myositis, Palpitations, Raynaud phenomenon, Congestive heart failure, Skin rash |
ORPHA:206569 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
| Rat-Bite Fever |
|
Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Arthritis, Septi... |
ORPHA:31205 |
| Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve |
OMIM:300997 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis |
OMIM:187800 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Juvenile rheumatoid arthritis, Pericarditis, Skin rash, Anterior uveitis |
ORPHA:85414 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Intrauterine growth retardation, Anemia |
OMIM:618838 |
| Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Pulmonic stenosis |
OMIM:619149 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Ventricular septal defect, Eczema, Abnormal heart morphology, Recurrent ot... |
ORPHA:500159 |
| Polymyositis |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Chondrocalcinosis, Pericarditis, Abnormal mi... |
ORPHA:732 |
| American Trypanosomiasis |
|
Myocarditis, Infectious encephalitis, Cardiomyopathy, Congestive heart failure, Skin rash, Arrhyt... |
ORPHA:3386 |
| Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
| Thymic Aplasia |
|
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Lymphadenopathy, Decreas... |
ORPHA:83471 |
| Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular canal defect, Pulmonary arteri... |
ORPHA:210122 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve |
OMIM:619318 |
| Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Hydrocephalus |
ORPHA:163596 |
| X-Linked Mandibulofacial Dysostosis |
|
Branchial anomaly, Webbed neck |
ORPHA:1131 |
| Microscopic Polyangiitis |
|
Sinusitis, Pericarditis, Episcleritis, Peritonitis, Epistaxis, Arthritis, Pancreatitis, Increased... |
ORPHA:727 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... |
ORPHA:139402 |
| Obesity Due To Congenital Leptin Deficiency |
|
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of CD4-positive helper T ... |
ORPHA:66628 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ventricular hypertro... |
ORPHA:284169 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Sinusitis, Hypertrophic cardiomyopathy, Hypertension, Tubulointerstitial nephritis, ... |
ORPHA:183 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Abnormal aortic valve morphology, Atrioventricular canal defect, Tricuspid... |
ORPHA:1120 |
| Nijmegen Breakage Syndrome |
|
B lymphocytopenia, Intrauterine growth retardation, Short stature, Dysgammaglobulinemia, Prematur... |
OMIM:251260 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Aortic regurgitation, Renovascular hypertension |
ORPHA:401923 |
| Polyarteritis Nodosa |
|
Hypertension, Pericarditis, Cardiomyopathy, Raynaud phenomenon |
ORPHA:767 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of CD4-positive helper T ... |
ORPHA:179494 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Pancreatitis, Arrhythmia, Hypotension |
ORPHA:188 |
| Scedosporiosis |
|
Sinusitis, Arthralgia/arthritis, Pericarditis, Pneumonia, Endocarditis, Septic arthritis, Osteomy... |
ORPHA:449280 |
| Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Secundum atrial septal defect, Anemia, Leukocyte inclusion bodies |
OMIM:223350 |
| Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
ORPHA:50815 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Prolonged QTc interval, Malar rash, Serositis |
ORPHA:231111 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Aortic regurgitation, Abnormal left ventricular function |
OMIM:132900 |
| Scrub Typhus |
|
Myocarditis, Infectious encephalitis, Anterior uveitis, Skin rash, Hypotension |
ORPHA:83317 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst |
ORPHA:435938 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Intrauterine growth retardation, Anemia, Cardiomyopathy, Neonatal death |
OMIM:618839 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Anemia, Neonatal death |
OMIM:618835 |
| Adult-Onset Still Disease |
|
Myocarditis, Pericarditis, Hepatitis, Arthritis, Skin rash |
ORPHA:829 |
| Heart Block, Congenital |
|
Myocardial fibrosis, Myocardial calcification, Cardiomyopathy, Absent atrioventricular node |
OMIM:234700 |
| Branchiootic Syndrome |
|
Branchial fistula, Facial palsy |
ORPHA:52429 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... |
OMIM:616860 |
| Relapsing Polychondritis |
|
Myocarditis, Abnormal endocardium morphology, Pericarditis, Episcleritis, Chondritis of pinna, Ab... |
ORPHA:728 |
| Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
| Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Sinusitis, Shock, Infectious encephalitis, Pneumonia, Peritonitis, Myositis, Fasciit... |
ORPHA:36234 |
| Antisynthetase Syndrome |
|
Myocarditis, Keratoconjunctivitis sicca, Myositis, Aortic regurgitation, Pulmonary arterial hyper... |
ORPHA:81 |
| Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Pulmonary arterial hypertension, Arthritis, Arterial occlusion, Myocardial infarctio... |
ORPHA:464343 |
| Legionnaires Disease |
|
Myocarditis, Infectious encephalitis, Pericarditis, Endocarditis, Hepatitis, Pancreatitis, Arrhyt... |
ORPHA:549 |
| Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis, Exaggerated startle response |
ORPHA:3198 |
| Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Facial palsy |
OMIM:113650 |
| Scleroderma |
|
Myocarditis, Right ventricular failure, Syncope, Calcinosis cutis, Pericarditis, Episcleritis, Fa... |
ORPHA:801 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased circulating antibody level, Decreased lymphocyte proli... |
ORPHA:508533 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion |
OMIM:239850 |
| Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Mitral regurgitation, Pul... |
ORPHA:363705 |
| Bor Syndrome |
|
Branchial cyst, Facial palsy |
ORPHA:107 |
| Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Patent foramen ovale, Abnormal cardiac septum morphology |
OMIM:615009 |
| Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve |
OMIM:614900 |
| Atrial Standstill |
|
Skeletal muscle atrophy, Abnormal heart morphology, Cardiomyopathy, Muscular dystrophy, Flexion c... |
ORPHA:1344 |
| Hereditary Elliptocytosis |
|
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Postnatal growth retar... |
ORPHA:288 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Short stature |
OMIM:617243 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Intrauterine growth retardation, Cystic hygroma, Branchial anomaly, Increased nuchal translucency... |
ORPHA:453499 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Short stature, Neoplasm of the pancreas, Microcytic anemia, Premature ovarian insufficiency, T ly... |
ORPHA:2959 |
| Grange Syndrome |
|
Bicuspid aortic valve, Coronary artery stenosis, Renovascular hypertension |
OMIM:602531 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Short stature, Anemia, Anisocytosis, Poikilocytosis, Abnormal ... |
ORPHA:98870 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Scoliosis, Exaggerated startle response |
ORPHA:320406 |
| Whipple Disease |
|
Myocarditis, Infectious encephalitis, Pericarditis, Myositis, Arthritis, Myocardial infarction, G... |
ORPHA:3452 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve |
OMIM:618529 |
| Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Dextrotranspositi... |
OMIM:618619 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
| Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Growth delay, Short stature, Anemia, Patent ductus ... |
OMIM:613309 |
| Q Fever |
|
Myocarditis, Pericarditis, Pericardial effusion, Infectious encephalitis, Endocarditis, Pneumonia... |
ORPHA:781 |
| Felty Syndrome |
|
Sinusitis, Pericarditis, Episcleritis, Synovitis, Chronic otitis media, Rhinitis, Arthritis, Recu... |
ORPHA:47612 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Mitral valve prolapse, Double out... |
ORPHA:371428 |
| Holoprosencephaly |
|
Optic atrophy, Holoprosencephaly, Branchial anomaly, Hydrocephalus, Short neck, Spinal dysraphism |
ORPHA:2162 |
| Hengel-Maroofian-Schols Syndrome |
|
Bicuspid aortic valve |
OMIM:619641 |
| Mixed Connective Tissue Disease |
|
Myocarditis, Keratoconjunctivitis sicca, Pericarditis, Myositis, Pulmonary arterial hypertension,... |
ORPHA:809 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Thymic Tumor |
|
Cardiac arrest, Pericarditis |
ORPHA:100100 |
| Blau Syndrome |
|
Hypertension, Eczema, Pericarditis, Synovitis, Arthritis, Nongranulomatous uveitis, Uveitis, Irit... |
OMIM:186580 |
| Congenital Enterovirus Infection |
|
Myocarditis, Infectious encephalitis, Pericardial effusion, Hepatitis, Cardiomyopathy, Skin rash,... |
ORPHA:292 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Neutropenia, Short stature, Lymphadenopathy, Autoimmune thrombocytopenia, Lymphopenia, T lymphocy... |
OMIM:607944 |
| Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Aortic valve stenosis |
OMIM:243310 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization, Hearing impairment |
OMIM:619074 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
ORPHA:329224 |
| Craniofacial Microsomia |
|
Branchial anomaly, Hydrocephalus, Patent ductus arteriosus |
OMIM:164210 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Patent foramen ovale, Left ventricular hy... |
OMIM:619167 |
| Stiff-Person Syndrome |
|
Lumbar hyperlordosis, Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve |
OMIM:616367 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Webbed neck, Optic disc coloboma, Patent ductus arteriosus, Hydrocephalus, Low... |
ORPHA:261337 |
| Kawasaki Disease |
|
Myocarditis, Pericarditis, Double outlet right ventricle with subpulmonary ventricular septal def... |
ORPHA:2331 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Double outlet right ... |
ORPHA:477817 |
| Systemic Sclerosis |
|
Myocarditis, Right ventricular failure, Syncope, Calcinosis cutis, Pericarditis, Telangiectasia, ... |
ORPHA:90291 |
| Oligomeganephronia |
|
Branchial cyst, Optic disc coloboma |
ORPHA:2260 |
| Simple Cryoglobulinemia |
|
Hypertension, Pericarditis, Abnormal heart morphology, Nephritis, Arthritis, Raynaud phenomenon, ... |
ORPHA:91139 |
| Microsporidiosis |
|
Myocarditis, Cholangitis, Sinusitis, Infectious encephalitis, Pneumonia, Endocarditis, Lymphadeni... |
ORPHA:2552 |
| Squalene Synthase Deficiency |
|
Bicuspid aortic valve |
OMIM:618156 |
| Isotretinoin-Like Syndrome |
|
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Aortic valve st... |
ORPHA:2306 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Bicuspid aortic valve, Mitral regurgitation |
OMIM:617168 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Peritonitis, Myositis, Fasciitis, Arthritis, Vasculitis, Uveitis, Skin rash, Orchit... |
ORPHA:32960 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Behçet Disease |
|
Retrobulbar optic neuritis, Cerebral ischemia, Optic neuritis, Gastrointestinal hemorrhage, Vascu... |
ORPHA:117 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Branchial anomaly, Optic nerve hypoplasia, Cystic hygroma, Increased nuchal translucency |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Branchial anomaly, Optic nerve hypoplasia, Cystic hygroma, Increased nuchal translucency |
ORPHA:352665 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Mitral valve calcification, Ventricu... |
ORPHA:363618 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypertension, Pericarditis, Pericardial effusion, Increased blood pressure, Left ventricular hype... |
OMIM:619487 |
| Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, At... |
OMIM:121050 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... |
OMIM:601214 |
| Juvenile Dermatomyositis |
|
Pericarditis, Myositis, Telangiectasia of the skin, Cardiomyopathy, Arthritis, Bundle branch bloc... |
ORPHA:93672 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Bicuspid aortic valve, Aortic valve stenosis |
OMIM:614501 |
| Brucellosis |
|
Myocarditis, Pericarditis, Infectious encephalitis, Pneumonia, Endocarditis, Abnormal aortic valv... |
ORPHA:1304 |
| Immunodeficiency 82 With Systemic Inflammation |
|
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea... |
OMIM:619381 |
| Zygomycosis |
|
Myocarditis, Sinusitis, Pericarditis, Infectious encephalitis, Pustule, Endocarditis, Peritonitis... |
ORPHA:73263 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect... |
ORPHA:457279 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
| Listeriosis |
|
Myocarditis, Pericarditis, Infectious encephalitis, Pustule, Endocarditis, Pneumonia, Peritonitis... |
ORPHA:533 |
| Colchicine Poisoning |
|
Myocarditis, Cardiogenic shock, Congestive heart failure, Hypovolemia, Arrhythmia, Hypotension |
ORPHA:31824 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Intrauterine growth retardation, Truncus arteriosus |
ORPHA:261330 |
| Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Subdural hemorrhage, Melena, Parotitis, Acute pancreatitis, Diffuse alveolar hemorrh... |
ORPHA:99827 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Hypertension, Aortic regurgitation, Cardiomegaly, Transient ischemic attac... |
ORPHA:91387 |
| Shigellosis |
|
Myocarditis, Hypovolemic shock, Pneumonia, Peritonitis, Acute colitis, Arthritis, Uveitis, Ulcera... |
ORPHA:810 |
| Loeys-Dietz Syndrome 4 |
|
Eosinophilic infiltration of the esophagus, Bicuspid aortic valve, Mitral valve prolapse |
OMIM:614816 |
| Reactive Arthritis |
|
Inflammation of the large intestine, Pericarditis, Pustule, Aortic regurgitation, Arthritis, Oste... |
ORPHA:29207 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Meacham Syndrome |
|
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Cardiac total anomalous pulmonary... |
OMIM:608978 |
| Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Pulmonary arterial hypertension, ... |
OMIM:100300 |
| Familial Mediterranean Fever |
|
Pericarditis, Peritonitis, Arthritis, Pancreatitis, Myocardial infarction, Vasculitis, Skin rash,... |
ORPHA:342 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Lujo Hemorrhagic Fever |
|
Myocarditis, Shock, Subconjunctival hemorrhage, Rhinitis, Fulminant hepatitis, Bradycardia, Macul... |
ORPHA:319213 |
| Kleefstra Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Chronic otitis media, Tetralogy of Fallot, Arrh... |
ORPHA:261494 |
| Gm1 Gangliosidosis Type 1 |
|
Beaking of vertebral bodies T12-L3, Exaggerated startle response, Platyspondyly, Hypoplastic vert... |
ORPHA:79255 |
| Nocardiosis |
|
Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Lymphadenitis, Peritonitis, Osteo... |
ORPHA:31204 |
| Visceral Steatosis, Congenital |
|
Myocardial steatosis |
OMIM:228100 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Hypertension, Pericarditis, Prostatitis, Chronic otitis media, Epistaxis, Pancreatitis... |
ORPHA:900 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Abnormal retinal vascular morphology, Retinal neovascularization, Macular edema, Retinal cotton w... |
ORPHA:247691 |
| Treacher-Collins Syndrome |
|
Branchial fistula, Patent ductus arteriosus |
ORPHA:861 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Arterial Tortuosity Syndrome |
|
Dilated cardiomyopathy, Hypertension, Myocarditis, Hypertrophic cardiomyopathy, Esophagitis, Tela... |
ORPHA:3342 |
| Giant Cell Arteritis |
|
Pericarditis, Double outlet right ventricle with subpulmonary ventricular septal defect without p... |
ORPHA:397 |
| X Small Rings |
|
Bicuspid aortic valve, Ventricular septal defect, Mitral stenosis |
ORPHA:96201 |
| Progeroid Short Stature With Pigmented Nevi |
|
Allergic conjunctivitis, Bicuspid aortic valve, Aortic valve stenosis, Allergic rhinitis |
OMIM:176690 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Congestive heart failure, Constrictive pericarditis, Acute colitis, Abnormal pericardium morphology |
ORPHA:67 |
| Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac septum morphology |
ORPHA:96169 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve |
OMIM:300707 |
| Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Eczema, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:610443 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response |
ORPHA:309246 |
| Syndromic Diarrhea |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Aortic regurgitation... |
ORPHA:84064 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:610759 |
| Dermatomyositis |
|
Myocarditis, Chondrocalcinosis, Pericarditis, Pulmonary arterial hypertension, Telangiectasia of ... |
ORPHA:221 |
| Scorpion Envenomation |
|
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Cardiac conductio... |
ORPHA:466677 |
| Hunter-Macdonald Syndrome |
|
Bicuspid aortic valve, Hypertension, Mitral valve prolapse, Mitral regurgitation, Aortic regurgit... |
OMIM:611962 |
| Familial Mediterranean Fever |
|
Pericarditis, Peritonitis, Arthritis, Crohn's disease, Orchitis, Erysipelas |
OMIM:249100 |
| Pulmonary Alveolar Microlithiasis |
|
Right ventricular failure, Mitral valve calcification, Bronchiectasis, Stippled calcification in ... |
ORPHA:60025 |
| Lateral Meningocele Syndrome |
|
Bicuspid aortic valve |
OMIM:130720 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ... |
OMIM:245600 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Spinal rigidity, Scoliosis, Exaggerated startle response |
OMIM:253800 |
| Coccidioidomycosis |
|
Pericarditis, Folliculitis, Pneumonia, Peritonitis, Vasospasm, Panniculitis, Arthritis, Cerebral ... |
ORPHA:228123 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Bicuspid aortic valve, Aortic valve stenosis, Mitral regurgitation |
OMIM:613563 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response |
OMIM:272750 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary insufficiency, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve... |
OMIM:265380 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Atrioventricular block, Arrhythmia |
ORPHA:93317 |
| Von Hippel-Lindau Disease |
|
Myocarditis, Hypertension, Palpitations, Cardiomyopathy, Myocardial infarction, Abnormal left ven... |
ORPHA:892 |
| Igg4-Related Kidney Disease |
|
Inflammatory abnormality of the skin, Tubulointerstitial nephritis, Pericarditis, Urinary bladder... |
ORPHA:449395 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Atrioventricular canal defe... |
ORPHA:508498 |
| Marfan Syndrome |
|
Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, Mitral annular calcification,... |
OMIM:154700 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Kyphosis |
OMIM:617527 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Limb tremor, Exaggerated startle response |
OMIM:608643 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Kyphosis |
ORPHA:521426 |
| Branchiooculofacial Syndrome |
|
Intrauterine growth retardation, Facial palsy, Branchial anomaly, Low posterior hairline, Short neck |
OMIM:113620 |
| Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Mitral valve prolapse, Bicuspid pulmonary valve, Eosinophilic infiltration... |
OMIM:609192 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Dextrocardia, Bicuspid aortic valve, Cerebral hemorrhage, Antenatal intracerebral hemorrhage, Sub... |
ORPHA:536545 |
| Blau Syndrome |
|
Abnormal inflammatory response, Hypertension, Pericarditis, Synovitis, Posterior uveitis, Retrobu... |
ORPHA:90340 |
| Leptospirosis |
|
Pericarditis, Subconjunctival hemorrhage, Hepatitis, Pulmonary hemorrhage, Optic neuritis, Uveiti... |
ORPHA:509 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Frontometaphyseal Dysplasia 2 |
|
Bicuspid aortic valve, Patent foramen ovale, Ulcerative colitis, Pulmonic stenosis |
OMIM:617137 |
| Marburg Hemorrhagic Fever |
|
Shock, Pericarditis, Subconjunctival hemorrhage, Arthritis, Tachycardia, Bradycardia, Pancreatiti... |
ORPHA:99826 |
| Infection-Related Hemolytic Uremic Syndrome |
|
