Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... |
OMIM:615513 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:601859 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... |
OMIM:618459 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Increas... |
OMIM:618048 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... |
OMIM:615767 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:603909 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ... |
OMIM:616005 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... |
OMIM:308240 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... |
ORPHA:2688 |
Secretory Component Deficiency |
|
Secretory IgA deficiency |
OMIM:269650 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased... |
ORPHA:98813 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Lymphoproliferative Syndrome 3 |
|
Decreased circulating antibody level, Partial absence of specific antibody response to tetanus va... |
OMIM:618261 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, Abnormality of humor... |
ORPHA:277 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Schnitzler Syndrome |
|
Splenomegaly, Leukocytosis, Increased circulating IgM level, Anemia |
ORPHA:37748 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... |
OMIM:619281 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, B lymphocytopenia, Increased circulating IgM level, Decreased circulating antibody ... |
ORPHA:397596 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul... |
OMIM:209950 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... |
OMIM:308230 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency 102 |
|
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Partial absen... |
OMIM:301082 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste... |
OMIM:607941 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... |
OMIM:607594 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... |
OMIM:619897 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Congenital Pulmonary Lymphangiectasia |
|
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Gastroesoph... |
ORPHA:2414 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia |
OMIM:269840 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia |
OMIM:617638 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... |
OMIM:241600 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... |
OMIM:300853 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Absent ci... |
OMIM:620282 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level |
OMIM:618495 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... |
OMIM:619510 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia |
ORPHA:100024 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... |
OMIM:614069 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia |
OMIM:193670 |
Hydrops Fetalis |
|
Abnormality of the gastrointestinal tract, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema,... |
ORPHA:1041 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous... |
ORPHA:555905 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ... |
OMIM:242860 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... |
OMIM:617006 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... |
OMIM:617388 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... |
OMIM:115197 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
Boutonneuse Fever |
|
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia |
ORPHA:83313 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Poor appetite, Abnormal large intestine morphol... |
ORPHA:2198 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion, Gastrointestinal infarc... |
OMIM:602248 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
Immunodeficiency 61 |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... |
OMIM:300310 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:3092 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Increased circulating IgA level, Neutropenia |
OMIM:616395 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... |
OMIM:615779 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... |
OMIM:619752 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly... |
ORPHA:169160 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Decreased circulating IgG level, Partial absence of speci... |
OMIM:240500 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Abdominal distention, Pleural effusion, Abdominal pain |
ORPHA:48686 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Splenomegaly, Leukopenia, Decreased circulating total IgM, Lymph... |
OMIM:620210 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Leukopenia, Increased circulating IgG level, Thrombocytosis, Lym... |
OMIM:615934 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Immunodeficiency 46 |
|
Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... |
OMIM:614878 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Decreased proportion of naive T cells, Abnormal imm... |
ORPHA:276 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... |
OMIM:243700 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Pulmonic Stenosis And Deafness |
|
Ventricular hypertrophy, Pulmonic stenosis |
OMIM:178651 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ r... |
OMIM:619802 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Increased circulating IgE level |
OMIM:607676 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Abnormal T cell morphology |
OMIM:215250 |
Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Anorexia, Congestive heart failure, Paroxysmal atrial ... |
ORPHA:49827 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased ci... |
OMIM:616100 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia |
ORPHA:158014 |
Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia |
OMIM:601457 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... |
ORPHA:2041 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Gastrointestinal dysmotility, Gastroe... |
ORPHA:363705 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia, Cutaneous abscess |
OMIM:147060 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Feeding difficulties, Pleural effusion, Bradycardia, Hypertro... |
OMIM:614702 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Pallor, Oligohydramnios |
ORPHA:163596 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level |
ORPHA:411593 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy,... |
OMIM:619433 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma... |
OMIM:613101 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after dental ... |
OMIM:193400 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Edema, Pulmonary embolism, Congestive heart... |
ORPHA:90308 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... |
ORPHA:90064 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Decreased circulating antibody level |
OMIM:301045 |
Chilblain Lupus |
|
Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Immunodeficiency 22 |
|
Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion... |
OMIM:615758 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Reticular Dysgenesis |
|
Anemia, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:33355 |
Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Abscess, Increased circulating IgE level, Increased circulating I... |
OMIM:615816 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level |
OMIM:616069 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop... |
OMIM:602450 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Zika Virus Disease |
|
Increased circulating IgM level, Thrombocytopenia |
ORPHA:448237 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... |
ORPHA:275 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In... |
OMIM:260920 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, De... |
OMIM:615559 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... |
ORPHA:449400 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level |
ORPHA:343 |
Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Dysgammaglobulinemia, Anemia |
ORPHA:100025 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal tricuspid valve morphology, ... |
ORPHA:3405 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... |
OMIM:617780 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Anemia, Pulmonic stenosis |
OMIM:617408 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
Familial Hypofibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:101041 |
Familial Dysfibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:98881 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... |
ORPHA:29073 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... |
ORPHA:91139 |
Immunodeficiency 20 |
|
Reduced natural killer cell count, Reduced natural killer cell activity |
OMIM:615707 |
Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension, Ventricular septal defect |
ORPHA:79094 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Partial Atrioventricular Septal Defect |
|
Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio... |
ORPHA:1330 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... |
OMIM:275350 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Feeding difficulties... |
ORPHA:3282 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... |
ORPHA:1354 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, Valvular pulmonary... |
OMIM:212093 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Increased circula... |
ORPHA:507 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Increased nuchal translucency, Hydrops fetalis, Hypertrophic cardiomyopathy, As... |
ORPHA:295 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnormal circulating ... |
OMIM:226990 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulating antibody level, Hemophagocytosis |
OMIM:300635 |
American Trypanosomiasis |
|
Aganglionic megacolon, Edema, Abdominal pain, Periorbital edema, Myocarditis, Congestive heart fa... |
ORPHA:3386 |
Cyclic Vomiting Syndrome |
|
Anorexia, Abdominal pain, Gastrointestinal dysmotility, Cardiomyopathy, Vomiting, Pallor, Nausea |
OMIM:500007 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Feeding difficulties in infancy, Aortic valve atresia, Pedal edema, Aortop... |
ORPHA:2299 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... |
OMIM:618282 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Decreased lymphocyte proliferation in response to ... |
OMIM:618986 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... |
ORPHA:555874 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Vomiting, Pulmonic stenosis, Dehydration |
ORPHA:79159 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia |
OMIM:608184 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Immunodeficiency, Common Variable, 6 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... |
OMIM:613496 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Increased circulating IgE level, Hypereosinophilia |
ORPHA:2902 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios |
ORPHA:1909 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased c... |
OMIM:613011 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve |
OMIM:619492 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... |
OMIM:231200 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level |
OMIM:616576 |
Lassa Fever |
|
Increased circulating IgM level |
ORPHA:99824 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Rheumatic Fever |
|
Nausea and vomiting, Pericarditis, Abnormal heart valve morphology, Epistaxis, Anorexia, Abdomina... |
ORPHA:3099 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extraction, Prolonged ble... |
ORPHA:326 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro... |
ORPHA:90362 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... |
OMIM:102700 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after dental extr... |
ORPHA:465 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility, Mitral valve prolapse |
ORPHA:230839 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
ORPHA:436159 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... |
ORPHA:2494 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Prolonged... |
ORPHA:849 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... |
ORPHA:679 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi... |
OMIM:304790 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616910 |
Periventricular Nodular Heterotopia |
|
Aortic regurgitation, Abnormal bleeding, Abnormal heart valve morphology, Pyloric stenosis, Gastr... |
ORPHA:98892 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Diarrhea, Endocardial fibroelastosis, Restrictiv... |
OMIM:619313 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:615577 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Lambert Syndrome |
|
Decreased circulating antibody level |
ORPHA:1296 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulating antibody l... |
OMIM:615122 |
Pyoderma Gangrenosum |
|
Myeloid leukemia, Increased circulating antibody level |
ORPHA:48104 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Epistaxis, Cerebral hemorrhage, Abdominal pain,... |
ORPHA:99828 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Joint swelling... |
ORPHA:98878 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Feeding difficulties, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276556 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis, Prolonged QTc interval, Petechiae |
ORPHA:231111 |
Netherton Syndrome |
|
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level |
OMIM:256500 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis |
OMIM:114065 |
Tularemia |
|
Brain abscess, Leukocytosis, Anemia, Increased circulating antibody level, Thrombocytopenia, Cuta... |
ORPHA:3392 |
Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Mitral regurgitation, Bruising susceptibility, Mitral valve prolapse |
OMIM:225320 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:614224 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect, Oligohydramnios, Polyhydramnios, Aortic regurgitation |
OMIM:615476 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bone marrow hypoc... |
OMIM:301078 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Bone marrow hypocellularity, N... |
OMIM:617303 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
Sézary Syndrome |
|
Splenomegaly, Abnormal lymphocyte morphology, Abnormal immunoglobulin level |
ORPHA:3162 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... |
OMIM:618052 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Anemia |
OMIM:611283 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Pallor, Dysphagia |
OMIM:613561 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding |
OMIM:600195 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Feeding difficulties |
OMIM:620368 |
Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... |
OMIM:616501 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di... |
OMIM:612863 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Feeding difficulties, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276575 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Abnormality of the gastrointestinal tract, Gastropares... |
ORPHA:85443 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema |
OMIM:608776 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Intes... |
ORPHA:464321 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis |
OMIM:607016 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Feeding difficulti... |
OMIM:618775 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
Ataxia-Telangiectasia |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:100 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Su... |
ORPHA:169802 |
Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Pancytopenia, Panhypogammaglobulinemia |
ORPHA:251009 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Feeding difficulties, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276580 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level |
OMIM:618165 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Epistaxis, Abdominal pain, Conges... |
ORPHA:727 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Mitral regurgitation, Pulmonic stenosis, Aortic valv... |
OMIM:614823 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Cantu Syndrome |
|
Bicuspid aortic valve, Lymphedema, Pericardial effusion, Cardiomegaly, Congenital hypertrophy of ... |
OMIM:239850 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:2268 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Mitral val... |
OMIM:177850 |
Aortic Valve Disease 3 |
|
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:618496 |
Insulin-Resistance Syndrome Type B |
|
Decreased circulating complement factor B concentration, Increased circulating IgA level, Leukope... |
ORPHA:2298 |
Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
Immunodeficiency 66 |
|
Defective T cell proliferation |
OMIM:618847 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Pe... |
ORPHA:199241 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in... |
ORPHA:85446 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:612561 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... |
ORPHA:26793 |
Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Abnormal heart valve morphology, Abdominal pain, Pericardial effusion, Angio... |
ORPHA:36412 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction |
OMIM:137560 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Primary Biliary Cholangitis |
|
Increased circulating IgM level, Increased circulating IgA level |
ORPHA:186 |
Congenital Enterovirus Infection |
|
Abnormal bleeding, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops feta... |
ORPHA:292 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... |
OMIM:601495 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Intracr... |
ORPHA:853 |
Agammaglobulinemia, X-Linked |
|
Agammaglobulinemia, T lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia, Decrea... |
OMIM:300755 |
Roifman Syndrome |
|
Decreased circulating antibody level, Decreased T cell activation, Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Papa Syndrome |
|
Increased circulating antibody level |
ORPHA:69126 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Feeding difficulties, Reduced ... |
OMIM:620203 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Lymphopenia, Increased circulating antibody level, Thrombocytopenia |
ORPHA:319218 |
Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia |
OMIM:209920 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement |
OMIM:615377 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... |
OMIM:620040 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... |
ORPHA:90045 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after dental ... |
ORPHA:328 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Tick-Borne Encephalitis |
|
Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Abnor... |
ORPHA:297 |
Pneumocystosis |
|
Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Pedal edema, Ri... |
ORPHA:422 |
Polyvalvular Heart Disease Syndrome |
|
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... |
ORPHA:228410 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... |
ORPHA:100082 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects, Feeding diffi... |
OMIM:620070 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Granuloma, Increased circulating IgM level |
ORPHA:562639 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... |
ORPHA:251992 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level |
ORPHA:48377 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Portal hypertension, Edema, Diarrhea, Vomiting, Protein-losing enter... |
ORPHA:79319 |
Rift Valley Fever |
|
Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level, Anemia |
ORPHA:319251 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypoplastic left heart, Bradycardia, Dysphagia, Hypertrophic cardiomyo... |
OMIM:616276 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... |
OMIM:613179 |
C3 Glomerulopathy |
|
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... |
ORPHA:329918 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... |
ORPHA:93672 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Abnormal heart morphology, Pa... |
ORPHA:2847 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... |
ORPHA:100080 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Bacterial endocarditis |
ORPHA:1054 |
Congenital Factor Xi Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Polyhydramnios |
OMIM:615731 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Lymphedema, Secundum atrial septal defect, An... |
OMIM:223350 |
Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgM level, Increased circulating IgG4 level, Thrombocytopenia, Increased ci... |
ORPHA:79078 |
Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
Immunodeficiency 12 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Absent isohemagglutinin level, Comple... |
OMIM:615468 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
OMIM:615952 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Decreased circulating IgG2 level, Acute lymphoblastic leukemia, ... |
OMIM:208900 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:2868 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor, Anorexia |
ORPHA:79283 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion, Diarrhea |
ORPHA:411703 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Abdominal distention |
OMIM:613885 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Ventricular septal defect, Polyhydramnios, Patent ductus arteri... |
OMIM:609942 |
Mitral Valve Prolapse 3 |
|
Mitral valve prolapse |
OMIM:610840 |
Mitral Valve Prolapse 2 |
|
Mitral valve prolapse |
OMIM:607829 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Scaling skin, Hypo... |
ORPHA:79456 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Anemia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Gaucher Disease Type 1 |
|
Anorexia, Abdominal pain, Pericardial effusion, Pedal edema, Pulmonary arterial hypertension, Gin... |
ORPHA:77259 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect, Feeding difficulties |
OMIM:614249 |
Noonan Syndrome 11 |
|
Feeding difficulties in infancy, Pulmonic stenosis, Palmoplantar cutis laxa, Atrial septal defect... |
OMIM:618499 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased... |
OMIM:612301 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis |
OMIM:252605 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... |
ORPHA:210122 |
Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Aortic regurgitation, Pulmonic stenosis, Mitral valve prolapse |
OMIM:609008 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Secretory diarrhea, Feeding difficulties, Hematochezia, Ana... |
OMIM:618183 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Abnormal pulmona... |
ORPHA:860 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Malabsorption |
ORPHA:79301 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect, Mitral st... |
ORPHA:2248 |
Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Left ventricular noncompaction ca... |
OMIM:611878 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Edema, Abdominal pain, Pericardial effusion, Raynaud p... |
ORPHA:93552 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding after surgery, Prolo... |
ORPHA:35909 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
Feingold Syndrome Type 2 |
|
Jejunal atresia, Ventricular septal defect |
ORPHA:391646 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... |
ORPHA:402075 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Autoimmune Hepatitis |
|
Splenomegaly, Increased circulating IgG level, Increased circulating antibody level |
ORPHA:2137 |
Mungan Syndrome |
|
Tricuspid regurgitation, Intestinal pseudo-obstruction, Gastroparesis, Barrett esophagus, Abdomin... |
OMIM:611376 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Telangiectasia of the skin, Edema, Myocarditis, Xerostomia, Lack of skin el... |
ORPHA:81 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Anorexia, Malabsorption, Periorbital edema, Congestive he... |
ORPHA:33226 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... |
OMIM:618280 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... |
ORPHA:449432 |
Supravalvular Aortic Stenosis |
|
Pulmonic stenosis, Supravalvular aortic stenosis |
OMIM:185500 |
Griscelli Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Decreased circulating antibody level, Leukopenia, Bone ... |
ORPHA:381 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Portal hypertension, Edema, Pericardial effusion, Dry skin, Feeding difficulties, H... |
OMIM:619487 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:540 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Polyhydramnios, Feeding difficulties, Pleural effusion, Mitral regurgi... |
OMIM:615355 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart |
OMIM:241550 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Bicuspid aortic valve |
OMIM:619825 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Edema, Rectal p... |
ORPHA:329971 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Prolidase Deficiency |
|
Splenomegaly, Thrombocytopenia, Increased circulating antibody level, Anemia |
OMIM:170100 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Arrhythmia, Pallor, Diarrhea |
ORPHA:29822 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:2314 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia,... |
ORPHA:100075 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Bone marrow hypocellular... |
ORPHA:505248 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Decreased circulating antibody level, Microcytic anemia |
OMIM:619750 |
Typhoid |
|
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Constipation, A... |
ORPHA:99745 |
Aspergillosis |
|
Increased circulating IgE level, Eosinophilia, Neutropenia |
ORPHA:1163 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema |
ORPHA:79126 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr... |
ORPHA:555877 |
Macrocephaly/Autism Syndrome |
|
Splenomegaly, Lymphopenia, Decreased circulating antibody level |
OMIM:605309 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Anemia |
ORPHA:935 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Edema, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal... |
OMIM:192315 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Abnorm... |
ORPHA:284169 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Feeding difficulties, Gastroesophageal reflux, Pulmonic stenosis, Atrial s... |
OMIM:619149 |
Transaldolase Deficiency |
|
Edema, Thrombocytopenia, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Atrial s... |
ORPHA:101028 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Intestinal atresia |
OMIM:614326 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Polyhydramnios, Nonimmu... |
OMIM:265380 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... |
ORPHA:221139 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy |
OMIM:620089 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... |
OMIM:256040 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain, Lymphedema |
ORPHA:1414 |
Hemophilia B |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Joint hemorrhage, Persistent bleeding after trauma |
OMIM:306900 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension |
ORPHA:401923 |
Evans Syndrome |
|
Epistaxis, Syncope, Pallor, Bruising susceptibility, Petechiae |
ORPHA:1959 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... |
ORPHA:131 |
Familial Isolated Restrictive Cardiomyopathy |
|
Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricular arrhythmi... |
ORPHA:75249 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Polyhydramnios, Feeding difficulties in infancy, Tetralogy of Fallot, ... |
OMIM:618624 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Nausea, Congestive heart failure, Episodic abdominal pain, Palpitations, Pal... |
ORPHA:94080 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Gastritis, Myocarditis, Xeros... |
ORPHA:809 |
Ring Chromosome 21 Syndrome |
|
Decreased circulating antibody level |
ORPHA:1445 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... |
ORPHA:331235 |
Idiopathic Pulmonary Hemosiderosis |
|
Heart murmur, Pallor, Diffuse alveolar hemorrhage, Cardiomegaly |
ORPHA:99931 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease... |
OMIM:300972 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Feeding difficulties, Bradycardia, Hypertrophic cardiomyopathy, Poor suck |
OMIM:616277 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Anorexia, Abdominal pain, Myoca... |
ORPHA:3452 |
Distal Deletion 19P |
|
Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Feeding difficulties in infancy, Ventricular septal defect |
OMIM:614876 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... |
ORPHA:79124 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Benign Paroxysmal Torticollis Of Infancy |
|
Vomiting, Pallor |
ORPHA:71518 |
Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Faciocardiorenal Syndrome |
|
Tricuspid valve prolapse, Endocardial fibroelastosis |
ORPHA:1973 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Edema, Diarrhea, Intracranial hemorrhage, Oral cavity ble... |
ORPHA:324636 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Decreased circulating antibody level |
ORPHA:169105 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:66628 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Japanese Encephalitis |
|
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level |
ORPHA:79139 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Pallor, Skin ulcer |
ORPHA:848 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Abnormal bleeding, Hematemesis, Pr... |
ORPHA:274 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve |
ORPHA:228190 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis |
OMIM:264140 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Ecchymosis, Internal hemorrhag... |
ORPHA:99827 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
Stiff Skin Syndrome |
|
Gastroesophageal reflux, Bicuspid aortic valve |
OMIM:184900 |
Postinfectious Vasculitis |
|
Abnormality of humoral immunity, Cryoglobulinemia, Increased circulating antibody level, Increase... |
ORPHA:48435 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Bicuspid aortic valve, Abnormal left ventricular function |
OMIM:132900 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Subconjunctival hemorrha... |
ORPHA:464329 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... |
ORPHA:873 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level |
ORPHA:90003 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:179494 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Abdominal pain, Rectal prolapse, Adenomatous colo... |
ORPHA:79076 |
Mogs-Cdg |
|
Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating total IgM, Decrea... |
ORPHA:79330 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Decreased circulating antibody level |
OMIM:617425 |
Lead Poisoning |
|
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn... |
ORPHA:330015 |
Sarcosinemia |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:3129 |
Rhizomelic Syndrome |
|
Pulmonic stenosis |
OMIM:268250 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis, Dysphagia |
ORPHA:638 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abdominal pain, Intestinal obstruction, Nausea and vomiting |
ORPHA:543 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Leukopenia, Decreased circulating complement C3 concentration, Decre... |
OMIM:301080 |
Gaucher Disease Type 3 |
|
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... |
ORPHA:77261 |
Q Fever |
|
Pericarditis, Abnormal heart valve morphology, Anorexia, Pericardial effusion, Myocarditis, Vascu... |
ORPHA:781 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Mitral valve prolapse |
OMIM:211960 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... |
ORPHA:563 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Esophageal... |
ORPHA:974 |
Brucellosis |
|
Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Leukope... |
ORPHA:1304 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level |
ORPHA:457485 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Atrial sep... |
OMIM:618652 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Abdominal pain, Vasculitis, Skin ulcer, Gastrointestinal infarctions... |
ORPHA:91138 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Pedal edema, Sinus bradycardia |
OMIM:126320 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Prolonged bleeding time, Lymphedema, Intracranial hemorrhage, Pallor, Bruisi... |
ORPHA:3226 |
Lethal Congenital Contracture Syndrome 2 |
|
Polyhydramnios, Dilated cardiomyopathy, Ventricular septal defect, Edema |
OMIM:607598 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Anorexia, Abdominal pain, Malabsorption, Diarrh... |
ORPHA:98850 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Hypoplastic left heart, Bicuspid aortic valve |
OMIM:618845 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Feeding difficulties, Syncope, Palpitations, Pallor |
ORPHA:324575 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Feeding difficulties, Gastroesophageal reflux, ... |
OMIM:617450 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... |
ORPHA:85451 |
Autosomal Agammaglobulinemia |
|
Agammaglobulinemia, Neutropenia |
ORPHA:33110 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Anemia, Ascites, Thrombocytopenia |
ORPHA:858 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Pedal edema, Bacterial endocarditis, Ascites |
ORPHA:615 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Nonimmune hydrops fetalis, Anemia, Cardiomegaly |
OMIM:618838 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Neoplasm of the colon, In... |
ORPHA:2869 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Ext... |
OMIM:617021 |
Immunodeficiency 40 |
|
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia, Reduced antigen-specific T cell prol... |
OMIM:616433 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Subdural hemorrhage, Prolonged bl... |
OMIM:202400 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve |
OMIM:604381 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... |
OMIM:613673 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte proliferation, Abnormal lymphocyte ph... |
ORPHA:99867 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Abdominal pain, Periorbital edema, Chronic diarrhea, Chronic constip... |
OMIM:142680 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... |
ORPHA:90363 |
Immunodeficiency 59 And Hypoglycemia |
|
Decreased circulating antibody level, Complete or near-complete absence of specific antibody resp... |
OMIM:233600 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Mitral valve prolapse |
OMIM:130020 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat... |
ORPHA:99829 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibody level... |
ORPHA:1572 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... |
OMIM:235510 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased circulating IgA level |
OMIM:613385 |
Formiminoglutamic Aciduria |
|
Atrial septal defect, Anemia, Megaloblastic anemia |
ORPHA:51208 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor |
ORPHA:276608 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology |
ORPHA:2412 |
Serkal Syndrome |
|
Malrotation of small bowel, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios |
ORPHA:139466 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Villous atrophy, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Feeding di... |
OMIM:212065 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... |
ORPHA:137675 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Primary Lateral Sclerosis, Juvenile |
|
Pseudobulbar paralysis, Pallor, Dysphagia |
OMIM:606353 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Intestinal malrotation |
OMIM:615524 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged ble... |
OMIM:187900 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti... |
OMIM:614576 |
Nephronophthisis 16 |
|
Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmonic stenosis |
OMIM:615382 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Hydrops fetalis, Atrial ... |
OMIM:601927 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Anomalous pulmonary venous return, Abnormal aorti... |
ORPHA:1120 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Redundant skin, Congestive heart failure, Cutis ... |
OMIM:123700 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Poor suck, Feeding difficulties |
OMIM:619717 |
Weill-Marchesani Syndrome 3 |
|
Aortic valve stenosis, Pulmonic stenosis |
OMIM:614819 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Cardiomyopathy, Episodic vomiting |
OMIM:600721 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios |
ORPHA:3469 |
Igg4-Related Pachymeningitis |
|
Complement deficiency, Eosinophilia, Increased circulating IgG4 level |
ORPHA:449427 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
Retinitis Pigmentosa 89 |
|
Esophageal varix, Bicuspid aortic valve |
OMIM:618955 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis, Anemia, Decreased circulating antibody level |
OMIM:226300 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat... |
ORPHA:508533 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... |
ORPHA:247691 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Bicuspid pulmonary valve, Mitr... |
OMIM:609192 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse |
ORPHA:276413 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Polyhydramnios, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic card... |
OMIM:619745 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev... |
OMIM:210900 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Erythema, Ne... |
ORPHA:449285 |
Cystic Echinococcosis |
|
Eosinophilia, Abscess, Increased circulating antibody level, Splenic cyst, Peritoneal abscess |
ORPHA:400 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation |
OMIM:614651 |
Poems Syndrome |
|
Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Ascites |
ORPHA:2905 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Edema, Right ventricul... |
ORPHA:100078 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level |
OMIM:615508 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:615297 |
Coccidioidomycosis |
|
Eosinophilia, Abscess, Abnormality of the spleen, Increased circulating IgG level, Increased circ... |
ORPHA:228123 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Esophageal varix, Prolonged ... |
ORPHA:64743 |
Lynch Syndrome |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Nausea and vomiting, Abdominal pain, Malabsorp... |
ORPHA:144 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ab... |
ORPHA:537 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Agammaglobulinemia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:47 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, My... |
ORPHA:36426 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Dyspepsia, Intestinal obs... |
ORPHA:85450 |
Down Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... |
OMIM:190685 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Edema, Anorexia, Abdominal pain, Angioedema, Va... |
ORPHA:761 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:607143 |
Hydrops Fetalis, Nonimmune |
|
Anemia, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Mitral Valve Prolapse 1 |
|
Mitral valve prolapse |
OMIM:157700 |
Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Decreased liver function |
ORPHA:306550 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Intestinal polyposis, Transient ischemi... |
ORPHA:774 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Polyhydramnios, Thrombocytopenia, Patent ductus arteriosus, Hydrops fetalis, Ascite... |
ORPHA:2123 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Decreased circulat... |
ORPHA:125 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Pallor |
ORPHA:517 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul... |
OMIM:242900 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Abdominal distention, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Branchial Arch Syndrome, X-Linked |
|
Pulmonic stenosis |
OMIM:301950 |
Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level |
OMIM:212750 |
Immunodeficiency 56 |
|
Panhypogammaglobulinemia |
OMIM:615207 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix, Portal hypertension, Retinal telangiectasia |
OMIM:617341 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Gastroesophageal reflux, Atria... |
OMIM:249270 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Neoplasm of the colon, Abdominal pain, Malabsor... |
ORPHA:440437 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Pallor |
ORPHA:90037 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp... |
ORPHA:230851 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Patent duct... |
OMIM:600001 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Congestive heart failure, Midgut malrotation, Dilated cardiomyopathy, Heart... |
ORPHA:2326 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Tachycardia, Edema, Abdominal distention, Gastrointestinal dysmotility, Diarrh... |
ORPHA:90051 |
Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Feeding difficulties, Abnormal cardiac septum morphology, Constipation, Vo... |
OMIM:615009 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Hydrops fe... |
ORPHA:846 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Edema, Pericardial effusion, Hematemesis, Diarrhea, Vasculitis, Bloody diarrh... |
OMIM:615846 |
Temple-Baraitser Syndrome |
|
Atrial septal defect, Constipation, Gastroesophageal reflux, Pulmonic stenosis |
OMIM:611816 |
Alg9-Cdg |
|
Villous atrophy, Tricuspid regurgitation, Ventricular septal defect, Pericardial effusion, Diarrh... |
ORPHA:79328 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
OMIM:617822 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... |
OMIM:620294 |
Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Feeding difficulties, Constipat... |
OMIM:618027 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Nausea and vomiting, Myocardial ... |
ORPHA:117 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Esophageal varix, Truncu... |
OMIM:616589 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Panhypogammaglobulinemia, Absent circulating B cells |
OMIM:307200 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Anemia, Decreased ci... |
OMIM:620005 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... |
ORPHA:73224 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis, Ascites |
OMIM:269920 |
Glycogen Storage Disease Iv |
|
Polyhydramnios, Portal hypertension, Edema, Esophageal varix, Hydrops fetalis, Cardiomyopathy, He... |
OMIM:232500 |
Congenital Analbuminemia |
|
Increased circulating antibody level |
ORPHA:86816 |
Optic Atrophy 8 |
|
Mitral valve prolapse |
OMIM:616648 |
Encephalitis Lethargica |
|
Increased circulating antibody level |
ORPHA:83600 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... |
ORPHA:2255 |
Mucopolysaccharidosis, Type X |
|
Left ventricular hypertrophy, Aortic valve stenosis, Thickened aortic valve cusp, Aortic regurgit... |
OMIM:619698 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect |
OMIM:613759 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Recurrent intrapulmonary hemorrha... |
ORPHA:900 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Facial edema, Splenomegaly, Vacuolated lympho... |
OMIM:256550 |
Zygomycosis |
|
Periorbital edema, Unusual gastrointestinal infection, Colitis, Vomiting, Nausea, Abdominal pain,... |
ORPHA:73263 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Polyhydramnios, Feeding difficulties, Pulmonic stenosis, Atrial septal... |
OMIM:615102 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... |
ORPHA:83471 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Cardiac conduction abnormality, Anorexia, Oral-pharyng... |
ORPHA:2131 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Dysplastic pulmonary valve |
OMIM:300958 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Edema, Abdominal pain, Malabsorption, Diarrhea, Dyspha... |
ORPHA:2070 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach... |
ORPHA:44890 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia... |
OMIM:610377 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Feeding difficulties in infancy, Abnormal heart... |
ORPHA:500159 |
Vici Syndrome |
|
Decreased circulating IgG2 level, Decreased circulating IgG level |
ORPHA:1493 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Splenomegaly, Polyclonal elevation of IgM, Hepatosplenomegaly, Hi... |
ORPHA:171 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia |
OMIM:618313 |
Noonan Syndrome 5 |
|
Polyhydramnios, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy,... |
OMIM:611553 |
Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect |
ORPHA:1724 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Liver abscess, Decreased circulating total IgM, Decreased circulating IgG level, Decreased specif... |
ORPHA:183675 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a... |
OMIM:618131 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Edema, Anorexia, Reye syndrome-like episodes, Diarrhea, Dilated cardiomyopathy, D... |
ORPHA:20 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis, Feeding difficulties |
OMIM:619239 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... |
OMIM:220210 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Mitral valve prolapse |
ORPHA:2233 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Stillbirth, Aortic valve stenosis, Pulmonic stenosis,... |
OMIM:615415 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Splenomegaly, Decreased circulating IgA level |
OMIM:613327 |
Syndromic Diarrhea |
|
Aortic regurgitation, Dependency on intravenous nutrition, Villous atrophy, Ventricular septal de... |
ORPHA:84064 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poiki... |
OMIM:615631 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Aganglionic megacolon, Hypertension, Atrial septal defect |
OMIM:613870 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arrh... |
ORPHA:254346 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Hepatic failure, Melena, Paralytic ileus, Pro... |
OMIM:276700 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve |
OMIM:300997 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect, Feeding difficulties |
OMIM:620393 |
Systemic Sclerosis |
|
Intestinal bleeding, Interstitial cardiac fibrosis, Acral ulceration, Gastroesophageal reflux, Ab... |
ORPHA:90291 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Intestinal malrotation, Double outlet right ventricle, He... |
ORPHA:3426 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE... |
ORPHA:37042 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Decreased proportion ... |
ORPHA:1830 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Mitral valve prolapse |
ORPHA:2183 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Ebstein anomaly of the tricuspid valve |
OMIM:608980 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Impaired T cell function |
OMIM:201100 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Abdominal pain, Rectal prolapse, Skin ulcer, Neoplasm of the rectum, Neoplasm of the liver, Intes... |
ORPHA:424019 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... |
ORPHA:1677 |
Beta-Ketothiolase Deficiency |
|
Edema, Anorexia, Diarrhea, Dehydration, Hypertension, Vomiting, Pallor, Hypotension |
ORPHA:134 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Dysphagia |
OMIM:619083 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Pallor |
OMIM:609053 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Edema, Thrombocytopenia, Patent ductus arteriosus, Perimembranous ventricular septa... |
OMIM:608104 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val... |
ORPHA:3384 |
Infection-Related Hemolytic Uremic Syndrome |
|
Acute colitis, Edema, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Secretory di... |
ORPHA:544482 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Gastroesophageal reflux, Constipation, Atrial s... |
ORPHA:329224 |
Costello Syndrome |
|
Ventricular septal defect, Redundant skin, Polyhydramnios, Feeding difficulties in infancy, Lack ... |
ORPHA:3071 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Post-partum hemorrhage, Melena, Oral cavity bleeding, Pallor, Gingival bleeding |
ORPHA:98870 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Aortic regurgitation, Hiatus hernia, Cutis laxa, Hypertension, Ischemic ... |
OMIM:208050 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric... |
ORPHA:97214 |
Kcnq2-Related Epileptic Encephalopathy |
|
Feeding difficulties, Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios |
OMIM:263630 |
Whim Syndrome |
|
Decreased circulating antibody level, Lymphopenia, Abnormal neutrophil morphology, Neutropenia |
ORPHA:51636 |
Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Gastrointestinal dysmotility, Patent foramen ovale |
OMIM:619189 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Lymphedema, Abdominal pain, Chylopericardium, Chylothorax, Ascites |
ORPHA:538 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Nausea, Congestive heart failure, Episodic abdominal pain, Palpitations, Pal... |
ORPHA:276621 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Igg4-Related Thyroid Disease |
|
Increased circulating IgG4 level |
ORPHA:64744 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Anemic pallor, Retinal hemorrhage, Pedal edema, Palpitations |
ORPHA:86839 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect |
ORPHA:228399 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Conotruncal defect, Feeding difficulties, Abnormal cardiac septum morpholog... |
ORPHA:96147 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Bicuspid aortic valve, Chronic constipation, Gastroesophageal reflux, Hypoplastic left heart, Atr... |
OMIM:619721 |
Liver Failure, Infantile, Transient |
|
Decreased circulating IgG level |
OMIM:613070 |
Hereditary Spherocytosis |
|
Abdominal pain, Abdominal distention, Skin ulcer, Pallor, Restrictive cardiomyopathy |
ORPHA:822 |
Idiopathic Hypereosinophilic Syndrome |
|
Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorrhage, Colitis, Vomiting, ... |
ORPHA:3260 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... |
ORPHA:99125 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Bicuspid pulmonary valve, Mitr... |
OMIM:610168 |
Scleromyxedema |
|
Paraproteinemia |
ORPHA:167635 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:261243 |
Noonan Syndrome 9 |
|
Prolonged prothrombin time, Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
Mass Syndrome |
|
Mitral valve prolapse |
OMIM:604308 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Splenomegaly, Decreased circulating total IgA, T lymphocyt... |
OMIM:619381 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Congenital Heart Defects, Multiple Types, 7 |
|
Tetralogy of Fallot, Absence of the pulmonary valve, Pulmonic stenosis |
OMIM:618780 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Feeding difficulties in infan... |
ORPHA:477817 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Dehydration, Cardiomyopathy, Leukopenia, Anemia |
ORPHA:27 |
Cowden Syndrome 1 |
|
Lymphopenia, Decreased circulating antibody level |
OMIM:158350 |
Noonan Syndrome 6 |
|
Polyhydramnios, Edema, Feeding difficulties, Pulmonic stenosis, Hypertrophic cardiomyopathy |
OMIM:613224 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Riddle Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
ORPHA:420741 |
Esophageal Atresia |
|
Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Feeding dif... |
ORPHA:1199 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... |
ORPHA:1600 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte h... |
OMIM:605676 |
Tsh-Secreting Pituitary Adenoma |
|
Nausea and vomiting, Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure,... |
ORPHA:91347 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Abnormal spleen morphology, Increased circulating antibody level, An... |
ORPHA:284 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Feeding difficulties, Dextrotransposition of th... |
OMIM:618619 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect |
ORPHA:261120 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Subcutaneous hemorrhage, Pulmonary hemorrhage |
OMIM:603585 |
Vici Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, L... |
OMIM:242840 |
Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Congestive heart failure, Pallor |
ORPHA:75564 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Mitral valve prolapse |
OMIM:225310 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... |
ORPHA:371428 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Squalene Synthase Deficiency |
|
Constipation, Dry skin, Bicuspid aortic valve, Gastrostomy tube feeding in infancy |
OMIM:618156 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Increased nuchal translucency, Mitral valve prolapse,... |
OMIM:616564 |
Wells Syndrome |
|
Skin vesicle, Vasculitis, Edema |
ORPHA:901 |
Primary Myelofibrosis |
|
Abnormal bleeding, Portal hypertension, Anorexia, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
Mannosidosis, Alpha B, Lysosomal |
|
Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level |
OMIM:248500 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect, Feeding difficulties |
OMIM:618506 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Feeding difficulties in infancy, Ventricular septal defect, Bicuspid aortic valve |
OMIM:617751 |
Necrotizing Enterocolitis |
|
Shock, Edema, Abdominal distention, Diarrhea, Peritonitis, Abnormal heart morphology, Bloody diar... |
ORPHA:391673 |
Bardet-Biedl Syndrome 19 |
|
Atrial septal defect, Ventricular septal defect, Hypoplastic left heart, Partial atrioventricular... |
OMIM:615996 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Edema, Abdominal pain, Abnormal gastric mucosa morphology, D... |
ORPHA:263665 |
Aapoaiv Amyloidosis |
|
Paraproteinemia |
ORPHA:439232 |
Trichinellosis |
|
Increased circulating IgE level |
ORPHA:863 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia, Pallor |
ORPHA:90033 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Palpebral edema, Ventricular septal defect, Patent ductus arteriosus, Tricuspi... |
ORPHA:261337 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle... |
OMIM:179613 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... |
OMIM:203300 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Abdominal pain, Malabsorptio... |
ORPHA:79430 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Atrial septa... |
OMIM:601808 |
Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
Chédiak-Higashi Syndrome |
|
Abnormal bleeding, Epistaxis, Edema, Pericardial effusion, Gingival bleeding, Decreased liver fun... |
ORPHA:167 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Atelis Syndrome 1 |
|
Atrial septal defect, Dry skin, Ventricular septal defect, Feeding difficulties |
OMIM:620184 |
Gitelman Syndrome |
|
Prolonged QT interval, Nausea and vomiting, Abdominal pain, Pericardial effusion, Raynaud phenome... |
ORPHA:358 |
Cardiofaciocutaneous Syndrome 2 |
|
Mitral valve prolapse |
OMIM:615278 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Abnormal pulmonary valve morphology, Pulmonic stenosis |
ORPHA:137634 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve |
OMIM:619318 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Abdominal pain, Myocarditis, Macular edema, Abnormal left ventricular func... |
ORPHA:892 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Bruising susceptibility, Redundant skin, Mitral valve prolapse |
ORPHA:536532 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Dominant Beta-Thalassemia |
|
High-output congestive heart failure, Diarrhea, Dilated cardiomyopathy, Skin ulcer, Feeding diffi... |
ORPHA:231226 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Umbilical hernia, Tricuspid valve prolapse |
ORPHA:1101 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage |
OMIM:605735 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Polyhydramnios, Feeding difficulties in infancy, Abnormal heart morpho... |
ORPHA:254534 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries |
OMIM:231060 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,... |
ORPHA:79329 |
Ppoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97278 |
Peters Plus Syndrome |
|
Intestinal fistula, Polyhydramnios, Feeding difficulties in infancy, Bicuspid pulmonary valve, Ab... |
ORPHA:709 |
3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:7 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defec... |
OMIM:614114 |
Scimitar Syndrome |
|
Ventricular septal defect, Dextrocardia, Mitral atresia, Patent ductus arteriosus, Partial anomal... |
ORPHA:185 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM |
OMIM:618162 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop... |
ORPHA:444463 |
Geleophysic Dysplasia 2 |
|
Hepatomegaly, Tricuspid stenosis, Mitral valve prolapse, Aortic valve stenosis, Mitral stenosis |
OMIM:614185 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Mitral valve prolapse |
OMIM:616166 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... |
ORPHA:2929 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor |
ORPHA:90036 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A... |
ORPHA:392 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Hydrops fetalis, Myocardial fibrosis, Pericardial constriction, Ascites |
OMIM:253250 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, At... |
OMIM:121050 |
Solitary Rectal Ulcer Syndrome |
|
Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic constipation, Ten... |
ORPHA:209964 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Lymphedema, Mitral valve prolapse |
OMIM:247410 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation |
ORPHA:2181 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,... |
OMIM:231005 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial septal defect, Trunc... |
OMIM:617478 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Abnormal atrioventricular valve physiology, Abnormal mitral valve morpholog... |
ORPHA:576 |
Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula... |
OMIM:223370 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Th... |
OMIM:606003 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Gastroesophageal reflux, Increased nuchal translucency, Ventricular septal defect, Feeding diffic... |
OMIM:617635 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Increased nuchal translucency, Hypotension, Atrial septal defect, Pate... |
OMIM:615668 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast... |
ORPHA:3463 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Edema, Anemia of inadequate production, Spl... |
ORPHA:3202 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Abnormal heart morphology, Atrial septal defec... |
ORPHA:401935 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... |
ORPHA:95459 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
Igg4-Related Ophthalmic Disease |
|
Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level |
ORPHA:449563 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Polyhydramnios, Perimembranous ventricular septal defect, Pallor, Hepa... |
OMIM:606812 |
Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Feeding difficulties, Cutis laxa, Premature skin wrinkling, Dermal transluc... |
OMIM:616603 |
Hadziselimovic Syndrome |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect |
OMIM:612946 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... |
OMIM:618935 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Volvulus, Gastrointestinal infarctions |
ORPHA:1059 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve, Abno... |
ORPHA:466791 |
Neonatal Marfan Syndrome |
|
Abnormal cardiac ventricle morphology, Tricuspid valve prolapse, Mitral valve prolapse |
ORPHA:284979 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97280 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Alagille Syndrome 2 |
|
Atrial septal defect, Hypertension, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:610205 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Feeding difficulties in infancy, Ventricular septal defect |
OMIM:618974 |
Stickler Syndrome Type 1 |
|
Mitral valve prolapse |
ORPHA:90653 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, H... |
OMIM:618278 |
Hennekam Syndrome |
|
Lymphedema, Pericardial effusion, Malabsorption, Pyloric stenosis, Hydrops fetalis, Chylothorax, ... |
ORPHA:2136 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Feeding difficu... |
ORPHA:2306 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Decreased circulating antibody leve... |
OMIM:615688 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Leukopenia,... |
ORPHA:227990 |
Central Core Disease |
|
Mitral valve prolapse |
ORPHA:597 |
Dental Anomalies And Short Stature |
|
Mitral valve prolapse |
OMIM:601216 |
Cardiofaciocutaneous Syndrome 4 |
|
Ventricular septal hypertrophy, Polyhydramnios, Abnormal aortic valve morphology, Pulmonic stenosis |
OMIM:615280 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Heart murmur, Pulmonic stenosis |
OMIM:617600 |
Melnick-Needles Syndrome |
|
Stillbirth, Tricuspid valve prolapse, Mitral valve prolapse |
OMIM:309350 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain |
OMIM:191390 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema, Cardiomegaly |
ORPHA:3137 |
Pitt-Hopkins-Like Syndrome 2 |
|
Gastroesophageal reflux, Constipation, Pulmonic stenosis, Feeding difficulties |
OMIM:614325 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Feeding difficulties, Chronic constipation, Dou... |
OMIM:616652 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C... |
ORPHA:160148 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal ... |
OMIM:306955 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Ventricular septal defect |
OMIM:613730 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Atrial... |
OMIM:157800 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Ventricular septal defect |
OMIM:618330 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Transient ischemic attack, Edema, Cardiomegaly, Pericardial effusion, Po... |
ORPHA:51608 |
Hengel-Maroofian-Schols Syndrome |
|
Bicuspid aortic valve |
OMIM:619641 |
Grfoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97261 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Gastroesopha... |
OMIM:618494 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal lymphocyte morphology, Decreased circulating antibody level, Severe B lymphocytopenia, A... |
ORPHA:293978 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Vomiting, Pallor, Diarrhea |
ORPHA:263455 |
Beta-Thalassemia Major |
|
High-output congestive heart failure, Diarrhea, Dilated cardiomyopathy, Skin ulcer, Feeding diffi... |
ORPHA:231214 |
Baraitser-Winter Syndrome 1 |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:243310 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Left ventricular hypertrophy, Mitral regurgitation, Bicuspid aortic valve, Striae distensae |
OMIM:617168 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Peptic ulcer, Edema, Malabsorption, Joint swelling |
ORPHA:2796 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:2701 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... |
ORPHA:449395 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Hypertension, Atrial septal defect, Aortic valve... |
OMIM:139210 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Feeding difficulties, Pulmonic s... |
OMIM:607721 |
X Small Rings |
|
Ventricular septal defect, Bicuspid aortic valve, Feeding difficulties, Mitral stenosis, Oligohyd... |
ORPHA:96201 |
Methimazole Embryofetopathy |
|
Esophageal atresia, Ventricular septal defect, Tracheoesophageal fistula, Polyhydramnios |
ORPHA:1923 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou... |
OMIM:608978 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Nausea, Congestive heart failure, Episodic abdominal pain, Palpitations, Pal... |
ORPHA:29072 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Cardiomyopathy, Nonimmune hydrops fetalis, Anemia |
OMIM:618839 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Abdominal pain, Diarrhea, Joint swelling, Inflammation of the... |
ORPHA:29207 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Turnpenny-Fry Syndrome |
|
Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Tricuspid valve prolapse, Atrial... |
OMIM:618371 |
16P12.1P12.3 Triplication Syndrome |
|
Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal heart morphology |
ORPHA:485405 |
Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Esophageal varix, Pulmonic stenosis, Pulmonary arterial hypertension, P... |
OMIM:616028 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy |
OMIM:277175 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Dehydration, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic... |
OMIM:212140 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97283 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Hypertrophic cardiomyopathy, Nonimmune hydrops fetalis, Anemia |
OMIM:618835 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Leukopenia,... |
ORPHA:227982 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Poly... |
ORPHA:567 |
Camurati-Engelmann Disease, Type 2 |
|
Mitral valve prolapse |
OMIM:606631 |
Noonan Syndrome 7 |
|
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Impaired oropharyngeal swal... |
OMIM:613706 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Feeding difficulties, Duodenal a... |
ORPHA:464311 |
Fragile X Syndrome |
|
Mitral valve prolapse |
OMIM:300624 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Pulmonic stenosis, Cutis laxa |
ORPHA:75496 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Noonan Syndrome 4 |
|
Abnormal bleeding, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal de... |
OMIM:610733 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Villous atrophy, Ventricular septal defect, Polyhydramnios, Pulmonic stenos... |
OMIM:222470 |
Say-Barber-Miller Syndrome |
|
Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell... |
ORPHA:3132 |
Dahlberg-Borer-Newcomer Syndrome |
|
Lymphedema, Mitral valve prolapse |
ORPHA:1563 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect |
OMIM:615879 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Pleural effusion, Ascites |
OMIM:235200 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Pleural effusion, Hyper... |
OMIM:616897 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior... |
OMIM:616843 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Intestinal polyposis, Polyhydramnios, Increased nuchal translucency, Colon ... |
ORPHA:1052 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... |
OMIM:617877 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Chronic diarrhea, Abnormal he... |
ORPHA:457279 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Mitral regurgitation, Ventricular septal defect |
OMIM:301039 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
Prune Belly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Intestinal atresia, Constipation, Atrial septa... |
ORPHA:2970 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Increased anti-food allergen IgE antibody level |
ORPHA:411696 |
Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis, Feeding diffic... |
OMIM:618205 |
Emanuel Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Intestinal malrotation, Feeding difficulties, Gast... |
OMIM:609029 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Decreased circulating antibody level, Complement deficiency, Leukopenia, Normo... |
ORPHA:289390 |
Encephalocraniocutaneous Lipomatosis |
|
Aortic valve stenosis, Tricuspid valve prolapse |
ORPHA:2396 |
Charge Syndrome |
|
Lymphopenia, Overriding aorta, Ventricular septal defect, Polyhydramnios, Secundum atrial septal ... |
OMIM:214800 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Mitral regurgitation, Ventricular septal defect |
OMIM:603387 |
Sarcoidosis, Susceptibility To, 1 |
|
Splenomegaly, Pancytopenia, Increased circulating antibody level, Abnormality of T cell physiology |
OMIM:181000 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Cardiospondylocarpofacial Syndrome |
|
Mitral valve prolapse |
ORPHA:3238 |
Kagami-Ogata Syndrome |
|
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Pulmonary art... |
OMIM:608149 |
Grange Syndrome |
|
Coronary artery stenosis, Bicuspid aortic valve, Renovascular hypertension |
OMIM:602531 |
Cysticercosis |
|
Increased circulating antibody level |
ORPHA:1560 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Congenital thrombocytopenia, Anemia, Cardiomegaly |
OMIM:618886 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Tricuspid regurgitation, Ventricular septal defect, Increased nuchal translucency, Atrial septal ... |
OMIM:618870 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Inc... |
OMIM:603903 |
Cold Agglutinin Disease |
|
Nausea and vomiting, Diarrhea, Pallor |
ORPHA:56425 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Ascites, Mitral valve prolapse |
ORPHA:2848 |
Aymé-Gripp Syndrome |
|
Pericardial effusion, Pericarditis |
ORPHA:1272 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Tachycardia, Poor appetite, Vomiting, Pallor, Constipation |
ORPHA:35858 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Cardio... |
OMIM:605275 |
Beta-Thalassemia Intermedia |
|
High-output congestive heart failure, Skin ulcer, Pallor, Decreased liver function, Hepatocellula... |
ORPHA:231222 |
Irida Syndrome |
|
Abnormal intestine morphology, Pallor |
ORPHA:209981 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Monosomy 13Q34 |
|
Epistaxis, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, Common atrium |
ORPHA:96168 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Colitis, Enterocolitis, Crohn's disease |
OMIM:613148 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormality of the gastrointestinal tract, Ventricular septal defect, Bicuspid aortic valve, Naso... |
ORPHA:453499 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Pulmonic stenosis, Facial telangiectasia |
OMIM:620141 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Eryt... |
ORPHA:913 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect, Polyhydramnios |
ORPHA:2256 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart... |
ORPHA:85438 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Pulmonic stenosis |
OMIM:613312 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Feedin... |
OMIM:614866 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Abnormal pulmonary valve morphology, Myocar... |
ORPHA:500 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh... |
ORPHA:394 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Fragile X Syndrome |
|
Mitral valve prolapse |
ORPHA:908 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left ventricular outflo... |
ORPHA:99050 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ... |
OMIM:100300 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Patent foramen ovale, Mitral valve prolapse |
OMIM:615539 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Mitral valve prolapse |
OMIM:173900 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... |
OMIM:251260 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, ... |
OMIM:616860 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Reye syndrome-like episodes, Diarrhea, Vomiting, Pallor |
ORPHA:348 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Tricuspid regurgitation, Pyloric stenosis, Mitral valve prolapse, Biventric... |
OMIM:617402 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgA level |
ORPHA:369837 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:85202 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Asplenia, Patent... |
OMIM:164280 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Hypertension, Mitral regurgit... |
OMIM:611962 |
Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... |
ORPHA:391641 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
Frank-Ter Haar Syndrome |
|
Umbilical hernia, Mitral valve prolapse |
ORPHA:137834 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect, Edema |
OMIM:618348 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Intestinal malrotation, Partial anomalous pulmonary veno... |
OMIM:619657 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1166 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Pyloric stenosis, Feeding difficulties, Duodenal... |
ORPHA:464306 |
Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Bowel incontinence, Pyloric stenosis, Gastroeso... |
ORPHA:261494 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Redundant neck skin, Ventricular septal de... |
ORPHA:2519 |
Ogden Syndrome |
|
Cardiogenic shock, Arrhythmia, Ventricular septal defect, Cutis laxa |
ORPHA:276432 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Splenomegaly, Patent ductus arteriosus, Spherocytosis, Mitral valve prolapse, A... |
ORPHA:251066 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Redundant neck skin, Redundant skin, Congestive heart failure, Dilatation o... |
ORPHA:90348 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... |
ORPHA:542323 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Feeding difficulties in infancy, ... |
OMIM:301056 |
Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Chronic diarrhea, Aortic regurgitation |
OMIM:620072 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Atrial septal defect, Umbilical hernia, Tricuspid valve prolapse, Mitral valve prolapse |
OMIM:601776 |
Hurler Syndrome |
|
Aortic regurgitation, Cardiomyopathy, Mitral regurgitation, Protuberant abdomen, Endocardial fibr... |
OMIM:607014 |
Skraban-Deardorff Syndrome |
|
Constipation, Ventricular septal defect, Feeding difficulties |
OMIM:617616 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Atrial septal defect, Gastroesophageal reflux, Bicuspid aortic valve, Chronic constipation |
OMIM:619720 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Bicuspid aortic valve, Polyhydramnios, Lymphedema, Mitral regurgitation, Chylothorax, Aortic valv... |
OMIM:613563 |
Emanuel Syndrome |
|
Redundant neck skin, Ventricular septal defect, Truncus arteriosus, Feeding difficulties, Gastroe... |
ORPHA:96170 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular... |
ORPHA:70591 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor, Feeding difficulties |
OMIM:613839 |
Rhizomelic Syndrome, Urbach Type |
|
Pulmonic stenosis |
ORPHA:3098 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Feeding difficulties in infancy, Pyloric stenos... |
OMIM:610443 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Nausea, Abdominal pain, Hematemesis, Diarrhea, Capillary leak, Int... |
ORPHA:340 |
Plummer-Vinson Syndrome |
|
Poor appetite, Abdominal pain, Esophageal web, Pallor, Dysphagia |
ORPHA:54028 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Feeding difficulties, Perimembranous ve... |
OMIM:600987 |
Classic Multiminicore Myopathy |
|
Mitral valve prolapse, Right ventricular hypertrophy |
ORPHA:324604 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Peptic ulcer, Abdominal pain, Diarrhea, Syncope, Pallor, Hypotension, Nausea |
ORPHA:98849 |
Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Mitral valve prolapse, Bruisin... |
OMIM:614816 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle, Tetralo... |
ORPHA:3304 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology, Tricuspid valv... |
ORPHA:2556 |
Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... |
OMIM:115470 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Aganglionic megacolon, Ventricular septal defect |
OMIM:609460 |
Marfan Syndrome |
|
Mitral valve prolapse, Bicuspid aortic valve, Tricuspid valve prolapse, Mitral annular calcification |
OMIM:154700 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor, Anorexia |
OMIM:611590 |
Temtamy Syndrome |
|
Aortic regurgitation |
OMIM:218340 |
Cardiofacioneurodevelopmental Syndrome |
|
Feeding difficulties in infancy, Atrioventricular canal defect, Ventricular septal defect, Pulmon... |
OMIM:619123 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an... |
ORPHA:91500 |
Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve |
OMIM:616367 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Aortic regurgitation, Abnormal cardiac septum morphology, Mitral atresia |
ORPHA:140952 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Ventricular septal defect |
OMIM:616651 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
20Q13.33 Microdeletion Syndrome |
|
Atrial septal defect, Abnormal cardiac ventricle morphology, Hematochezia, Oligohydramnios |
ORPHA:261311 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Ventricular septal defect, Feeding difficulties in infancy, Complete... |
ORPHA:508488 |
Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Aortic regurgitation, Mitral valve calcification, Mitral stenosis, Angin... |
ORPHA:740 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Feeding difficulties in infancy, Pyloric stenosis, Abnormal cardiac septum... |
ORPHA:96169 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Constipation, Gastroesophageal reflux, Pulmonary arterial hypertension... |
ORPHA:447980 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Feeding difficulties in infancy, Gastroesophage... |
OMIM:610759 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Vomiting, Pallor |
OMIM:246450 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Intestinal malrotation, Parachute mitral valve, Gastroesophageal reflu... |
OMIM:618316 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Pulmonary edema, Left atrial enlargement, Cardiomegaly, Peripheral edema, Left vent... |
ORPHA:57777 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Ogden Syndrome |
|
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Cardiomegaly, Secundum atrial septal ... |
OMIM:300855 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Cerebral edema, Oligohy... |
OMIM:617713 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation |
OMIM:607015 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Chronic constipation, Gastroesophageal reflux, Pulmonic stenosis, Feeding difficulties |
OMIM:616977 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Anorexia, Malabsorption, Erythema, Chronic diarrhea, Hydrops fetalis, Dehydratio... |
OMIM:557000 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Prolonged prothrombin time, Pulmonic stenosis |
OMIM:614300 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Mitral valve prolapse |
ORPHA:98 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Gastroesophageal reflux, Ventricular septal defect, Dysphagia |
OMIM:619909 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polypo... |
OMIM:175500 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Bowel incontinence, Pyloric stenosis, Atrial sep... |
ORPHA:261330 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitral st... |
OMIM:617660 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Anemia, Decreased circulating antibody level |
ORPHA:79396 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Feedi... |
ORPHA:508498 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Mitral valve prolap... |
OMIM:175050 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Ventricular septal defect, Oligohydramnios, Dehydration, Atrial septal defect,... |
OMIM:208085 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... |
OMIM:607872 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Erythema, Retinal hemorrhage, Feeding difficulties, Hyper... |
OMIM:614653 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Portal hypertension, Hematemesis, Esophageal varix, Dehydration, Hypertension, Neonatal death, Ol... |
OMIM:263200 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture, Excessive wrinkled skin,... |
OMIM:225400 |
Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... |
OMIM:143095 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor, Dysphagia |
ORPHA:13 |
Classical Ehlers-Danlos Syndrome |
|
Mitral valve prolapse, Joint swelling, Blepharochalasis, Tricuspid valve prolapse, Umbilical hernia |
ORPHA:287 |
Plague |
|
Abnormal bleeding, Tachycardia, Edema, Anorexia, Hematemesis, Abdominal pain, Diarrhea, Enterocol... |
ORPHA:707 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Lysinuric Protein Intolerance |
|
Hepatosplenomegaly, Anemia, Leukopenia, Decreased circulating antibody level, Abnormality of humo... |
ORPHA:470 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Hiatus hernia, Feeding difficulties, Gastroesophageal reflux, Atrial s... |
OMIM:619769 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... |
ORPHA:261183 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Pallor, Nonimmune hydrops fetalis |
OMIM:266200 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Feeding difficulties, Gastroesophageal reflux, Constipation, Dysphagia... |
OMIM:614961 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Splenomegaly, Thrombocytop... |
OMIM:608013 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
Degcags Syndrome |
|
Tachycardia, Ventricular septal defect, Jejunal atresia, Polyhydramnios, Oral-pharyngeal dysphagi... |
OMIM:619488 |
Sheehan Syndrome |
|
Orthostatic hypotension, Poor appetite, Constipation, Palpitations, Bradycardia, Pallor, Dry skin... |
ORPHA:91355 |
2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Polyhydramnios, Feeding difficulties, Mitral regurgitation, Dysphagia |
ORPHA:261349 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... |
OMIM:619534 |
Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve |
OMIM:614900 |
Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Abnormal bleeding, Diarrhea, Intracranial hemorrhage, Prolong... |
ORPHA:90062 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypoplastic right heart |
OMIM:618142 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Sandhoff Disease, Infantile Form |
|
Hepatosplenomegaly, Mitral valve prolapse |
ORPHA:309155 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Nasogastric... |
ORPHA:268261 |
Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Feeding difficulties, Gastroesophageal refl... |
ORPHA:494344 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
ORPHA:2516 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... |
ORPHA:508542 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Feeding difficulties in infancy,... |
ORPHA:565 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Aortic valve stenosis, Bicuspid aortic valve, Feeding difficulties |
OMIM:614501 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Lymphedema, Abdominal distention,... |
OMIM:235255 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level |
OMIM:601675 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Mitral valve prolapse |
OMIM:606408 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Recurrent gastroenteritis |
ORPHA:309288 |
Cenani-Lenz Syndactyly Syndrome |
|
Pulmonic stenosis |
OMIM:212780 |
Boudin-Mortier Syndrome |
|
Mitral valve prolapse |
OMIM:619543 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Patent ductus arteriosus, Mi... |
OMIM:602782 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, Reticulocytopenia, Steroi... |
OMIM:613309 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Intestinal malrotation |
ORPHA:2143 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Malabsorption, Ventricular septal defect, Exocrine pancreatic insufficiency |
ORPHA:452 |
Geleophysic Dysplasia 1 |
|
Hepatomegaly, Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis |
OMIM:231050 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath... |
OMIM:614921 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... |
ORPHA:906 |
Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect, Feeding difficulties |
OMIM:617201 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Palpebral edema, Cardiomegaly, Congestive heart failure, Heart murmur, Mitr... |
OMIM:252500 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Pallor, Bruising susceptibility, Abnormal pulmonary valve morpho... |
ORPHA:667 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor |
OMIM:600462 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Feeding difficulties |
ORPHA:3306 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Feeding difficulties in infancy, Ventricular septal defect |
OMIM:608572 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Hypoplasia of the thy... |
OMIM:617022 |
Gabriele-De Vries Syndrome |
|
Ebstein anomaly of the tricuspid valve, Patent foramen ovale |
ORPHA:506358 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Feeding difficulties, Gastroesoph... |
OMIM:617360 |
Renal Agenesis |
|
Hypertension, Ventricular septal defect, Oligohydramnios |
ORPHA:411709 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Ventricular septal defect, Feeding ... |
ORPHA:79243 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Esophageal varix, Feeding d... |
ORPHA:731 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, A... |
OMIM:264480 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Anomalous pulmonary venous return, Conotruncal... |
ORPHA:3097 |
Adenohypophysitis |
|
Orthostatic hypotension, Pallor, Poor appetite, Nausea |
ORPHA:95512 |
Cohen Syndrome |
|
Leukopenia, Neutropenia, Mitral valve prolapse |
OMIM:216550 |
Noonan Syndrome 13 |
|
Atrial septal defect, Lymphedema, Mitral valve prolapse |
OMIM:619087 |
Brittle Cornea Syndrome 1 |
|
Mitral valve prolapse |
OMIM:229200 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Pulmonic stenosis |
ORPHA:1131 |
Pituitary Apoplexy |
|
Nausea and vomiting, Hypertension, Pallor, Hypotension |
ORPHA:95613 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Leukopenia, Increased circul... |
ORPHA:99826 |
Fanconi Anemia, Complementation Group E |
|
Bruising susceptibility, Anemic pallor, Abnormal heart morphology |
OMIM:600901 |
3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:435638 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Congestive heart failure, Hydrops fetalis, Abnormal heart morphology, ... |
ORPHA:354 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Redundant neck skin, Mitral atresia, Double outlet right ventricle, Supravalvar pulmonary stenosi... |
OMIM:618164 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari... |
OMIM:127550 |
Non-Functioning Pituitary Adenoma |
|
Nausea and vomiting, Vomiting, Pallor, Hypotension |
ORPHA:91349 |
Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Feeding difficulties |
OMIM:618950 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Oculofaciocardiodental Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Mitral valve prolapse |
ORPHA:2712 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Feeding difficulties in infan... |
OMIM:617506 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Patent foramen ovale, Pulmonic stenosis |
OMIM:618914 |
Joubert Syndrome 18 |
|
Ventricular septal defect |
OMIM:614815 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Decrease... |
OMIM:614162 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:290 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Hypoplastic left atrium, Neonatal death, Pulmonic stenosis, Atrial sep... |
OMIM:601186 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Abdominal pain, Congestive heart failure, Dilated cardiomyopathy, Chronic diarrhea, Hematochezia,... |
OMIM:615895 |
Simpson-Golabi-Behmel Syndrome |
|
Splenomegaly, Increased circulating IgE level, Polysplenia |
ORPHA:373 |
Craniofacial Dyssynostosis With Short Stature |
|
Pyloric stenosis, Ventricular septal defect |
OMIM:218350 |
Cardiofaciocutaneous Syndrome |
|
Abnormality of the gastrointestinal tract, Abnormal heart valve morphology, Redundant skin, Lymph... |
ORPHA:1340 |
Panhypophysitis |
|
Orthostatic hypotension, Pallor, Poor appetite, Nausea |
ORPHA:95513 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
Diamond-Blackfan Anemia |
|
Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morphology, Pallor, Adenocar... |
ORPHA:124 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect |
ORPHA:2345 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Fanconi Anemia, Complementation Group A |
|
Bruising susceptibility, Anemic pallor, Abnormal heart morphology |
OMIM:227650 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Intestinal malrotation, Abnormal heart morphology, Feeding difficultie... |
ORPHA:404440 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Atrial fibrillation, Abnormal heart morphology, Mitral regurgitation, Pulmo... |
ORPHA:284984 |
Scheie Syndrome |
|
Aortic regurgitation |
ORPHA:93474 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
OMIM:277600 |
Mucoepithelial Dysplasia, Hereditary |
|
Melena, Chronic diarrhea, Cor pulmonale, Corneal neovascularization |
OMIM:158310 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r... |
ORPHA:95430 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Patent ductus arteriosus, Pedal edema, Abnormal heart morphology, Abnormal cardiac ... |
ORPHA:980 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Feeding difficulties, Ventricular septal defect, Dysphagia |
OMIM:618325 |
Cap Myopathy |
|
Mitral valve prolapse |
ORPHA:171881 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Telangiectasia, Chronic constipation, Atrial septal defect, Tetralogy ... |
OMIM:612582 |
Coffin-Lowry Syndrome |
|
Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Abnormal aortic valve morp... |
ORPHA:192 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Heart murmur, Feeding difficulties |
ORPHA:166035 |
Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Esophagitis, Tetralogy ... |
OMIM:612562 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Arrhythmia, Inflammation of the large intestine |
OMIM:106300 |
Heart And Brain Malformation Syndrome |
|
Gastroesophageal reflux, Ventricular septal defect, Polyhydramnios |
OMIM:616920 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect, Gastroesophageal reflux, Constipation, Dysphagia, Dry skin, Striae dis... |
OMIM:619312 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Valvular pulmonary stenosis, Rectovaginal fistula, Atrial septal defect, P... |
OMIM:300707 |
Letterer-Siwe Disease |
|
Stomatitis, Abdominal distention, Pallor |
OMIM:246400 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... |
OMIM:615067 |
Familial Multiple Lipomatosis |
|
Abnormal tricuspid valve morphology |
ORPHA:199276 |
Prolactinoma |
|
Nausea and vomiting, Vomiting, Pallor, Hypotension |
ORPHA:2965 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Lack of skin elasticity, Mitral regurgitatio... |
OMIM:608328 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Cutis laxa, Atrial septal defect, Lef... |
OMIM:245600 |
Legionnaires Disease |
|
Splenomegaly, Lymphopenia, Bone marrow hypocellularity |
ORPHA:549 |
Kawasaki Disease |
|
Nausea and vomiting, Pericarditis, Abnormal heart valve morphology, Edema, Abdominal pain, Myocar... |
ORPHA:2331 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:612938 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased circulating antibody level, Anemia, Hepatosplenomegaly |
ORPHA:247598 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Chronic constipation, Ventricular septal defect, Feeding difficulties |
OMIM:617452 |
Gaucher Disease |
|
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia |
ORPHA:355 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Mitral valve prolapse |
OMIM:300986 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor |
OMIM:615234 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea... |
ORPHA:1727 |
Kapur-Toriello Syndrome |
|
Constipation, Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation |
ORPHA:2328 |
Chime Syndrome |
|
Ventricular septal defect, Erythema, Tetralogy of Fallot, Skin ulcer, Transposition of the great ... |
ORPHA:3474 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Ventricular septal defect |
OMIM:614424 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Umbilical hernia, Patent ductus arteriosus, Mitral valve prolapse |
OMIM:104350 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:369891 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cardiomyopathy, Mitral valve prolapse |
OMIM:258450 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Constipation, Gastroesophageal reflux, Atrial septal defect, Pulmonary... |
OMIM:616449 |
Fanconi Anemia, Complementation Group C |
|
Bruising susceptibility, Ventricular septal defect, Anemic pallor |
OMIM:227645 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Feeding difficulties, A... |
OMIM:301030 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Beck-Fahrner Syndrome |
|
Feeding difficulties in infancy, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Brachydactyly, Type B1 |
|
Ventricular septal defect |
OMIM:113000 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic failure, Ventricular septal defect |
OMIM:615630 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy, Feeding difficulties, Mitral regurgitation, Dy... |
ORPHA:261250 |
Cerebrofacioarticular Syndrome |
|
Lymphedema, Feeding difficulties in infancy, Abnormal heart morphology, Pulmonic stenosis, Gastro... |
ORPHA:314679 |
Aase-Smith Syndrome I |
|
Ventricular septal defect |
OMIM:147800 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Verheij Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Feeding difficulties |
OMIM:615583 |
King-Denborough Syndrome |
|
Ventricular septal defect |
OMIM:619542 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Leukocytosis, Mitral valve prolapse, Pleural effusion, Right atrial enlargement |
OMIM:620233 |
Congenital Contractural Arachnodactyly |
|
Mitral valve prolapse |
ORPHA:115 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Dermal translucency, Tricuspid regurgitation, Bicuspid aortic valve, Redund... |
OMIM:612289 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Inte... |
OMIM:270100 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Umbilical hernia, Mitral valve prolapse |
OMIM:130000 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Polyhydramnios |
OMIM:219730 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... |
OMIM:614947 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Chronic constipation, Ventricular septal defect, Feeding difficulties |
ORPHA:505237 |
Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Feeding difficulties |
OMIM:617516 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert... |
ORPHA:1517 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Gastrostomy tube feeding in infancy, Pulmonic stenosis, Feeding di... |
OMIM:615802 |
Trisomy 13 |
|
Atrial septal defect, Ventricular septal defect, Hydrops fetalis |
ORPHA:3378 |
Frontometaphyseal Dysplasia 2 |
|
Bicuspid aortic valve, Feeding difficulties in infancy, Pyloric stenosis, Ulcerative colitis, Gas... |
OMIM:617137 |
Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect, Heart ... |
OMIM:158170 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Feeding difficulties, Gastroesophageal reflux,... |
ORPHA:457193 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Dehydration, Umb... |
ORPHA:96191 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation |
OMIM:252600 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Abdominal distention, Diarrhea, Neoplasm of the liver, Constipation, Pallo... |
ORPHA:653 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:130720 |
Trisomy 1Q |
|
Increased nuchal translucency, Ventricular septal defect, Hydrops fetalis, Polyhydramnios |
ORPHA:261344 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Abdominal distention, Protein-los... |
ORPHA:1655 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Acrocardiofacial Syndrome |
|
Ventricular septal defect, Mitral stenosis, Feeding difficulties in infancy, Atrial septal defect... |
ORPHA:2008 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Gastroparesis, Intestinal pseudo-obstruction, F... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Gastroparesis, Intestinal pseudo-obstruction, F... |
ORPHA:352665 |
Watson Syndrome |
|
Pulmonic stenosis |
OMIM:193520 |
Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Polyhydramnios, Intesti... |
ORPHA:99776 |
19Q13.11 Microdeletion Syndrome |
|
Dry skin, Ventricular septal defect, Feeding difficulties |
ORPHA:217346 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Mitral stenosis, Subvalvular aortic stenosis |
OMIM:619461 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:75389 |
Kury-Isidor Syndrome |
|
Ventricular septal defect, Feeding difficulties |
OMIM:619762 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Double outlet right ventricle, Dry skin, Chronic constipation, Pulmona... |
ORPHA:163956 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Ventricular septal defect, Feeding difficulties, Chronic constipation, Dysphagia, Atrial septal d... |
OMIM:617061 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ... |
ORPHA:536545 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Lip telangiectasia, Palmar telangiectasia, Steat... |
OMIM:613471 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve |
OMIM:618529 |
Hereditary Mixed Polyposis Syndrome |
|
Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... |
ORPHA:157794 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect, Nasogastric tube feeding |
ORPHA:3078 |
Transketolase Deficiency |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:488618 |
Zttk Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Feeding difficulties in infancy, Chronic diarrhe... |
OMIM:617140 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... |
OMIM:253800 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis, Atrial septal ... |
OMIM:201000 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect |
ORPHA:85194 |
Adenocarcinoma Of The Anal Canal |
|
Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Skin ulcer, Neoplasm of the rectum, N... |
ORPHA:424016 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Mitral valve prolapse |
OMIM:236200 |
Robinow Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Pu... |
ORPHA:97360 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Bohring-Opitz Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Cutis laxa, Feeding difficulti... |
OMIM:605039 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:391487 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous v... |
OMIM:612474 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Palpebral edema, Abdomina... |
OMIM:619475 |
Diabetic Embryopathy |
|
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries |
ORPHA:1926 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Feeding difficulties, Hypertension, ... |
OMIM:220111 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Rectal prolapse, Volvulus, Intussusception |
OMIM:112200 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Pulmonic stenosis, Dermal translucency |
OMIM:618343 |
Seckel Syndrome 9 |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios |
OMIM:616777 |
Hardikar Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Portal hypertension, Abdominal pain, Hematemes... |
OMIM:301068 |
Incontinentia Pigmenti |
|
Pallor, Erythema, Retinal hemorrhage |
OMIM:308300 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Alagille Syndrome |
|
Atrial septal defect, Hypertension, Telangiectasia of the skin, Ventricular septal defect |
ORPHA:52 |
Pelger-Huet Anomaly |
|
Ventricular septal defect |
OMIM:169400 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect |
ORPHA:1488 |
Short Stature-Micrognathia Syndrome |
|
Gastroesophageal reflux, Ventricular septal defect, Feeding difficulties |
OMIM:617164 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Joint swelling |
ORPHA:465508 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Esophageal atresia, Tracheoesophageal fistula, Abnormal heart morphology, Bruising... |
OMIM:227646 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... |
ORPHA:1596 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lactose intolerance, Ventricular septal defect, Gastroesophageal reflux, Constipation, Dysphagia,... |
OMIM:619229 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Feeding difficulties, Patent foramen ovale, Oligohydramnios |
OMIM:620113 |
Vipoma |
|
Nausea and vomiting, Anorexia, Poor appetite, Malabsorption, Erythema, Secretory diarrhea, Dehydr... |
ORPHA:97282 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Pulmonary edema, Cardiomegaly |
OMIM:105210 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Intestinal malr... |
ORPHA:353281 |
Codas Syndrome |
|
Ventricular septal defect |
ORPHA:1458 |
Takenouchi-Kosaki Syndrome |
|
Abnormal cardiac septum morphology, Pulmonic stenosis, Lymphedema |
OMIM:616737 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, Thr... |
OMIM:274000 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Umbilical hernia, Mitral valve prolapse |
OMIM:618000 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Oligohydramnios, Cardiomegaly |
ORPHA:158687 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Esophageal atresia, Ventricular septal defect, Tracheoesophageal fistula |
ORPHA:77298 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Muscular edema, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... |
OMIM:174900 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect |
OMIM:613680 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Right ventricular hypertrophy |
OMIM:613404 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Nausea |
OMIM:229600 |
Kabuki Syndrome 2 |
|
Atrial septal defect, Feeding difficulties in infancy, Atrioventricular canal defect, Pulmonic st... |
OMIM:300867 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Feeding difficulties in infancy, Esophageal atresia, Ventricular septal defect |
OMIM:610536 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Myopathy With Extrapyramidal Signs |
|
Ventricular septal defect |
OMIM:615673 |
Atelis Syndrome 2 |
|
Vitreous hemorrhage, Gastroesophageal reflux, Pulmonic stenosis, Supravalvar pulmonary stenosis |
OMIM:620185 |
Spondyloocular Syndrome |
|
Atrial septal defect, Lymphedema, Mitral valve prolapse, Dysplastic aortic valve |
OMIM:605822 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Aortic regurgitation, Intestinal obstruction, Cerebral hemorrhag... |
ORPHA:666 |
Williams Syndrome |
|
Bicuspid aortic valve, Redundant skin, Myocardial infarction, Cardiomegaly, Periorbital edema, Re... |
ORPHA:904 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Ventricular septal defect, Polyhydramnios, Feeding difficulties in infancy, Gastroesophageal refl... |
OMIM:300998 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect, Feeding difficulties |
OMIM:620073 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... |
ORPHA:580 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:611134 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Fat malabsorption, Hepatic failure, Prolonged prothrombin time |
OMIM:214950 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:220500 |
Kapur-Toriello Syndrome |
|
Atrial septal defect, Constipation, Ventricular septal defect, Intestinal malrotation |
OMIM:244300 |
Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Eos... |
OMIM:613795 |
Williams-Beuren Syndrome |
|
Colonic diverticula, Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Feedi... |
OMIM:194050 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Eosinophilic infiltration of the esophagus, Hiatus hernia, Mitral regu... |
OMIM:615582 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1908 |
Stickler Syndrome, Type I |
|
Mitral valve prolapse |
OMIM:108300 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Ventricular septal defect, Intestinal malrotation, Hydrops fetalis, Atri... |
OMIM:263520 |
Char Syndrome |
|
Ventricular septal defect |
ORPHA:46627 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Fetal ascites, Polyhydramnios, Abnormal stomach morphology, Tracheoeso... |
ORPHA:141127 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Hypoplastic left heart,... |
ORPHA:2209 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Palpebral edema, Lymphedema, Feeding difficulties, Gastroesophageal re... |
OMIM:606232 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral regurgitation |
OMIM:271640 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor, Abdominal pain |
OMIM:300908 |
Cardiofaciocutaneous Syndrome 1 |
|
Polyhydramnios, Feeding difficulties in infancy, Vomiting, Gastroesophageal reflux, Pulmonic sten... |
OMIM:115150 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Mitral valve prolapse |
OMIM:618874 |
Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Edema, Protuberant abdomen, Ne... |
OMIM:269860 |
Sotos Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Feeding difficulties, Gastroesopha... |
OMIM:117550 |
Fg Syndrome Type 1 |
|
Atrial septal defect, Umbilical hernia, Mitral valve prolapse |
ORPHA:93932 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Nasogastric tube f... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Nasogastric tube f... |
ORPHA:363958 |
Brittle Cornea Syndrome |
|
Bruising susceptibility, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:90354 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Tricuspid stenosis |
ORPHA:100079 |
Pentalogy Of Cantrell |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal pericardium morpho... |
ORPHA:1335 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Oligohydramnios, Mitral valve prolapse |
OMIM:616914 |
Peutz-Jeghers Syndrome |
|
Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatous polyposi... |
OMIM:175200 |
Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
Autosomal Recessive Robinow Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal tricuspid valve morpholo... |
ORPHA:1507 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Abdominal distention, Gastroin... |
ORPHA:436252 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Feeding difficulties in infancy, Oligohydramnios, Pulmonic stenosis, Atrial septal defect, Duoden... |
OMIM:257300 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Colonic atresia, Atr... |
OMIM:309801 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Chronic constipation, Ventricular septal defect, Feeding difficulties |
OMIM:619575 |
Noonan Syndrome 1 |
|
Abnormal bleeding, Ventricular septal defect, Lymphedema, Feeding difficulties in infancy, Chylot... |
OMIM:163950 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia, Ventricular septal defect, Pedal edema, Mitral valve prolapse |
OMIM:617107 |
Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:270450 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:1770 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Mitral valve prolapse |
ORPHA:449291 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis |
OMIM:613001 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Hepatosplenom... |
ORPHA:217085 |
Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar... |
ORPHA:209905 |
Zellweger Syndrome |
|
Ventricular septal defect, Malabsorption, Feeding difficulties in infancy, Pyloric stenosis, Hepa... |
ORPHA:912 |
Fanconi Anemia, Complementation Group B |
|
Esophageal atresia, Ventricular septal defect, Tracheoesophageal fistula, Duodenal atresia |
OMIM:300514 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
Cohen Syndrome |
|
Neutropenia, Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
Viss Syndrome |
|
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... |
OMIM:619472 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Hepatosplenom... |
ORPHA:217093 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Encopresis... |
OMIM:616682 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Feeding difficulties in infancy, Episodic vomit... |
OMIM:618748 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Pallor |
ORPHA:300298 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal fistula, Transposition of the ... |
ORPHA:1780 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Feeding difficulties... |
ORPHA:438213 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... |
ORPHA:353277 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Polyhydramnios |
OMIM:615503 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:613355 |
Cogan Syndrome |
|
Aortic regurgitation, Vasculitis, Large vessel vasculitis |
ORPHA:1467 |
Ritscher-Schinzel Syndrome 2 |
|
Atrial septal defect, Ventricular septal defect, Intestinal malrotation |
OMIM:300963 |
Leopard Syndrome 1 |
|
Bundle branch block, Complete atrioventricular canal defect, Mitral valve prolapse, Third degree ... |
OMIM:151100 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect, Feeding difficulties |
ORPHA:261236 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Telangiectasia of the skin, Ventricular septal defect, Abdominal pain, Ery... |
ORPHA:2092 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Oligohydramnios |
OMIM:611812 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Gastrointestinal dysmotility, Ventricular septal defect, Intestinal malrotation, Duodenal atresia |
OMIM:617798 |
Codas Syndrome |
|
Ventricular septal defect, Polyhydramnios, Gastroesophageal reflux, Rectovaginal fistula, Atrial ... |
OMIM:600373 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Diarrhea, Hematochezia, Prolonged prothrombin time, Steatorrhea, Hepatic failure |
OMIM:613812 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Ulnar-Mammary Syndrome |
|
Pyloric stenosis, Arrhythmia, Ventricular septal defect |
ORPHA:3138 |
Chops Syndrome |
|
Ventricular septal defect, Gastroparesis, Anomalous pulmonary venous return, Gastroesophageal ref... |
OMIM:616368 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:145420 |
Osteogenesis Imperfecta, Type I |
|
Mitral valve prolapse |
OMIM:166200 |
Phaver Syndrome |
|
Ventricular septal defect |
ORPHA:2876 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Chronic constipation, Ventricular septal defect, Intestinal malrotation |
OMIM:617602 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Feeding difficulties, Pulmonic stenosis, Atrial septal... |
OMIM:614609 |
Recombinant 8 Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Redundant skin |
ORPHA:96167 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Ventricular septal defect, Increased nuchal translucency, Feeding difficulties, Gastroesophageal ... |
ORPHA:79345 |
Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Pleural effusion, Cardiomegaly |
OMIM:232300 |
Pmm2-Cdg |
|
Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Feeding difficulties, Intracrani... |
ORPHA:79318 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Mitral regurgitation, Recurrent gastroenteritis |
ORPHA:309282 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Dermal translucency, Intestinal bleeding, Gastrointestinal telangiectasia, Retinal telangiectasia |
OMIM:612199 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Feeding difficulties, Coronary artery fistula, Neonatal death, Atrial ... |
OMIM:620024 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Feeding difficulties in infancy, Cardiomyopathy, Abnormal cardiac septum m... |
ORPHA:3338 |
Tbck-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Oligohydramnios |
ORPHA:488632 |
Okamoto Syndrome |
|
Redundant neck skin, Ventricular septal defect, Intestinal malrotation, Abnormal left ventricle m... |
ORPHA:2729 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Chronic constipation, Ventricular septal defect |
OMIM:300472 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:617159 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Lymphedema, Cardiomegaly |
ORPHA:79280 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Enlarged kidney, Oligohydramnios |
OMIM:608836 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Abnormal left ventricular function, Vomiting, Protein-losing ent... |
OMIM:619991 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Nasogastric tube feeding in infancy, Ventricular septal defect |
OMIM:106260 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect |
ORPHA:52055 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Left ventricular hypertrophy, Pyloric stenosis, Pulmonic stenosis |
OMIM:619148 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Cor triatriatum, Secundum atrial septal defect, Mitral regurgitation, Pulmonic stenosis, Pulmonar... |
OMIM:612541 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Renal tubular epithelial necrosis, Cardiomyopathy, Abnormal myocardiu... |
ORPHA:228308 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
Leigh Syndrome |
|
Ventricular septal defect, Congestive heart failure, Gastrointestinal dysmotility, Feeding diffic... |
ORPHA:506 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Costello Syndrome |
|
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Pyloric stenosis, Mitral valve pr... |
OMIM:218040 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave, Ventricular septal defect, Mitral valve prolapse |
ORPHA:444072 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Patent foramen ovale, Ventricular septal defect, Tricuspid regurgitation, Hypoplastic right heart |
OMIM:616894 |
C Syndrome |
|
Ventricular septal defect, Cutis laxa |
OMIM:211750 |
Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect |
OMIM:272950 |
Rabson-Mendenhall Syndrome |
|
Atrial septal defect, Cardiomyopathy, Dry skin, Ventricular septal defect |
ORPHA:769 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m... |
ORPHA:500095 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Duodenal stenosis... |
OMIM:617063 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Bicuspid aortic valve, Myocardial infarction, Redundant skin in infancy, Parti... |
OMIM:150230 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Bloody diarrhea, Hematochezia, Subconjunctival hemorrhage, Inflammation of the large ... |
OMIM:617718 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dry skin, Ventricular septal defect |
OMIM:619306 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Intestinal malrotation |
OMIM:222448 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... |
OMIM:249420 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Ventricular septal defect, Nasogastric tube feeding in... |
ORPHA:1708 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Constipation, Ventricular septal defect |
ORPHA:464738 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect |
OMIM:618021 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Pulmonary arterial hypertension, Ventricular septal defect, Polyhydramnios, Aortopulmonary window |
OMIM:620025 |
Mycophenolate Mofetil Embryopathy |
|
Tracheoesophageal fistula, Ventricular septal defect, Hydrops fetalis |
ORPHA:268249 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Celiac disease, ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Celiac disease, ... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Celiac disease, ... |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Celiac disease, ... |
ORPHA:881 |
Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Shortened QT interval, Hematemesis, Diarr... |
ORPHA:652 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Ventricular septal defect, Intracranial hemorrhage, Heart murmur |
ORPHA:163979 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
Chromosome 15Q25 Deletion Syndrome |
|
Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia |
OMIM:614294 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Mitral stenosis |
OMIM:617260 |
Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... |
ORPHA:99818 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia |
ORPHA:79095 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:309520 |
Shprintzen-Goldberg Syndrome |
|
Umbilical hernia, Abnormal aortic valve morphology, Mitral valve prolapse |
ORPHA:2462 |
Caroli Syndrome |
|
Abnormal bleeding, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Hematemesis, Esophage... |
ORPHA:480520 |
Opitz Gbbb Syndrome |
|
Rectourethral fistula, Gastroesophageal reflux, Ventricular septal defect, Dysphagia |
OMIM:300000 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Atrial septal defect, Double outlet right ventricle, Pulmonic stenosis |
OMIM:618223 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect |
OMIM:612530 |
Trichohepatoneurodevelopmental Syndrome |
|
Ventricular septal defect, Polyhydramnios, Chronic diarrhea, Feeding difficulties, Gastroesophage... |
OMIM:618268 |
Orofaciodigital Syndrome V |
|
Aganglionic megacolon, Tetralogy of Fallot, Ventricular septal defect, Feeding difficulties |
OMIM:174300 |
Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Mitral valve prolapse |
ORPHA:730 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Umbilical hernia, Mitral valve prolapse |
ORPHA:1900 |
Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Hypoplastic left heart, Atrial septal defect, T... |
ORPHA:2473 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Perimembranous ventricular septal defect, Gastroesophageal reflux, Con... |
OMIM:301040 |
Mosaic Trisomy 1 |
|
Increased nuchal translucency, Ventricular septal defect, Polyhydramnios |
ORPHA:1692 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Bicuspid aortic valve |
ORPHA:1772 |
Frontometaphyseal Dysplasia 1 |
|
Cor pulmonale, Mitral valve prolapse |
OMIM:305620 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
De Barsy Syndrome |
|
Excessive wrinkled skin, Ventricular septal defect, Cutis laxa, Dermal translucency |
ORPHA:2962 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Feeding difficulties, Redundant neck skin, Ventricular septal defect, Dysphagia |
OMIM:214100 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... |
ORPHA:363700 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart |
OMIM:142900 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Mitral stenosis, Intestinal malrotation, Skin ulcer, Aortic valve sten... |
ORPHA:955 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Feeding difficulties |
OMIM:250410 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Umbilical hernia, Mitral valve prolapse |
OMIM:182212 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Gastroesophageal reflux, Ventricular septal defect, Patent foramen ovale, Feeding difficulties |
OMIM:613457 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Lymphedema, Cutis laxa, Pulmonic stenosis, Atrial septal defect,... |
ORPHA:536471 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Umbilical hernia, Cardiomegaly |
OMIM:618143 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Holoprosencephaly |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Feeding difficulties in infancy, ... |
ORPHA:2162 |
Hand-Foot-Genital Syndrome |
|
Ventricular septal defect |
ORPHA:2438 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Pulmonary arterial hypertension, Ventricular septal defect, Patent foramen ovale, Feeding difficu... |
OMIM:618454 |
Fryns Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Polyhydramnios, Intestinal malrotation, Esophag... |
OMIM:229850 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Pyloric stenosis, I... |
ORPHA:3472 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Ventricular septal defect |
ORPHA:251028 |
Kaufman Oculocerebrofacial Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Feeding difficulties in infancy, Constipation,... |
OMIM:244450 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect |
ORPHA:251038 |
Wiedemann-Rautenstrauch Syndrome |
|
Congenital malformation of the left heart, Feeding difficulties, Pulmonic stenosis, Premature ski... |
ORPHA:3455 |
Digeorge Syndrome |
|
Impaired T cell function, Splenomegaly, Anemia, Hypoplasia of the thymus, Thrombocytopenia |
OMIM:188400 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Hypoplastic left heart, Gastroesophageal reflux, Double outlet right v... |
OMIM:301043 |
Jacobsen Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Feeding difficulties in infancy, Pyloric steno... |
ORPHA:2308 |
Fucosidosis |
|
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly |
OMIM:230000 |
Trichothiodystrophy |
|
Cardiomyopathy, Dry skin, Ventricular septal defect |
ORPHA:33364 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect |
ORPHA:2789 |
Diets-Jongmans Syndrome |
|
Feeding difficulties in infancy, Ventricular septal defect, Polyhydramnios, Duodenal atresia |
OMIM:618846 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:607459 |
Osteopathia Striata With Cranial Sclerosis |
|
Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Gastroesophageal reflux, Atria... |
OMIM:300373 |
Oculodentodigital Dysplasia |
|
Arrhythmia, Ventricular septal defect |
ORPHA:2710 |
Trisomy 18 |
|
Atrial septal defect, Esophageal atresia, Ventricular septal defect, Oligohydramnios |
ORPHA:3380 |
Cranioectodermal Dysplasia 1 |
|
Hepatic failure, Bicuspid aortic valve, Protuberant abdomen |
OMIM:218330 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Acanthocytosis, Cardiomegaly, Anemia |
ORPHA:14 |
7Q11.23 Microduplication Syndrome |
|
Atrial septal defect, Chronic constipation, Aortic valve stenosis, Ventricular septal defect |
ORPHA:96121 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Splenomegaly, Cardiomyopathy, Cervical myelopathy, Umbilical hernia, Mitral stenosis |
OMIM:253200 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Pulmonic stenosis, Feeding difficulties |
ORPHA:529962 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Mitral valve prolapse |
OMIM:259600 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Fetal ascites, Facial erythema, Scaling skin, Portal hypertension, Ischemic stroke, Transposition... |
OMIM:619503 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Pyloric stenosis, Premature ventricular contraction, Feeding difficult... |
OMIM:602535 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Congestive heart failure, Abnormal heart morphology, Gastroesophageal ... |
ORPHA:444077 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Feeding difficulties in infancy, Tracheoesophageal fistula, Abnormal h... |
ORPHA:2745 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Spina bifida, Polyhydramnios, Patent ductus arterios... |
OMIM:180849 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Double outlet right ventricle,... |
OMIM:300166 |
Legius Syndrome |
|
Desmoid tumors, Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:137605 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect |
OMIM:212066 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Umbilical hernia, Abnormal aortic valve morphology, Abn... |
ORPHA:581 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Oligohydramnios, Mitral valve prolapse |
ORPHA:536467 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Muscular ventricular septal defect, Dry skin, Feeding difficulties, Hy... |
OMIM:210710 |
Keutel Syndrome |
|
Hypertension, Ventricular septal defect, Pulmonic stenosis |
OMIM:245150 |
Arboleda-Tham Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Secundum atrial septal defect, Upper eyelid ed... |
OMIM:616268 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect |
OMIM:178110 |
Specc1L-Related Hypertelorism Syndrome |
|
Atrial septal defect, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1519 |
Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:601321 |
Neurooculorenal Syndrome |
|
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro... |
OMIM:620305 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
Duane-Radial Ray Syndrome |
|
Atrial septal defect, Aganglionic megacolon, Ventricular septal defect |
OMIM:607323 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Coronary sinus enlargement, Atrial septal defect, Dry skin, Patent for... |
OMIM:619268 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric stenosis, Abnormal anato... |
ORPHA:2461 |
3Mc Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Conjunctival telangiectasia |
OMIM:257920 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, Colon can... |
ORPHA:261584 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Polyhydramnios, Feeding difficulties, Atrial septal defect, Atrioventr... |
ORPHA:3047 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Hepatoblastoma, Abnormal heart morphology, Feeding difficulties, Atria... |
ORPHA:1465 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Dry skin, Transposition of the great arteries, Subvalvular aortic sten... |
OMIM:280000 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Mitral valve prolapse |
ORPHA:369950 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, Pyloric stenosis, Gastr... |
OMIM:270400 |
Apert Syndrome |
|
Esophageal atresia, Overriding aorta, Ventricular septal defect, Pyloric stenosis |
OMIM:101200 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:251014 |
Femoral-Facial Syndrome |
|
Gastroesophageal reflux, Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Polyhydramnios, Feeding difficulties in infancy... |
ORPHA:818 |
Phace Association |
|
Ventricular septal defect |
OMIM:606519 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Exocrine pancreatic insufficiency, Ventricular septal defect, Vomiting, Tube feeding |
OMIM:619418 |
Jacobsen Syndrome |
|
Atrial septal defect, Pyloric stenosis, Ventricular septal defect |
OMIM:147791 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Hiatus hernia, Malrotation of colon, Pyloric stenosis, Gastroesophagea... |
OMIM:122470 |
Helsmoortel-Van Der Aa Syndrome |
|
Atrial septal defect, Mitral valve prolapse, Enlarged kidney, Abnormal heart morphology |
OMIM:615873 |
Meester-Loeys Syndrome |
|
Umbilical hernia, Mitral valve prolapse |
OMIM:300989 |
Goodpasture Syndrome |
|
Pallor, Pulmonary hemorrhage |
OMIM:233450 |
Cerebrocostomandibular Syndrome |
|
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect, Polyhydramnios |
OMIM:117650 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Feeding difficulties |
ORPHA:1393 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Feeding difficulties, Gastroesophageal reflux, Patent foramen ovale, D... |
OMIM:616975 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Redundant neck skin, Ventricular septal defect, Hepatoblastoma, Polyhydramnios, Cutis laxa, Feedi... |
ORPHA:96334 |
Pallister-Hall Syndrome |
|
Neonatal death, Ventricular septal defect |
OMIM:146510 |
Penile Agenesis |
|
Ventricular septal defect, Rectal fistula, Anorectal anomaly, Tracheoesophageal fistula, Atrial s... |
ORPHA:49 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Pyloric stenosis, Abdominal distention, Abnorma... |
OMIM:235730 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:300712 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Stillbirth, Transposition of the great arteries, Neona... |
OMIM:256520 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Ventricular septal hypertrophy, Oligohydramnios |
OMIM:608670 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Dilatation of the ventricular cavity, Gastroesophageal... |
ORPHA:459070 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:600460 |
Marfan Syndrome |
|
Mitral valve calcification, Meningocele, Mitral valve prolapse |
ORPHA:558 |
Neurofibroma |
|
Multiple intestinal neurofibromatosis, Intestinal bleeding |
ORPHA:252183 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Aganglioni... |
ORPHA:261552 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Polyhydramnios, Cardiomegaly, Splenomegaly, Large placenta, Umbilical hernia, Hyper... |
ORPHA:116 |
Mowat-Wilson Syndrome |
|
Dependency on intravenous nutrition, Bicuspid aortic valve, Aganglionic megacolon, Bowel incontin... |
ORPHA:2152 |
Limb Body Wall Complex |
|
Ventricular septal defect, Abnormal heart morphology, Abnormal intestine morphology, Atrial septa... |
ORPHA:2369 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Abnormal pulmonary valve morphology, Aganglionic megacolon, Bowel incontin... |
ORPHA:261537 |
Microphthalmia, Syndromic 3 |
|
Esophageal atresia, Ventricular septal defect |
OMIM:206900 |
Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:365 |
Johanson-Blizzard Syndrome |
|
Colonic diverticula, Ventricular septal defect, Portal hypertension, Malabsorption, Situs inversu... |
OMIM:243800 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenomegaly, Chronic lymphatic leukemi... |
ORPHA:51 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Hepatoblastoma, Cardiomyopathy... |
OMIM:312870 |
Alagille Syndrome 1 |
|
Ventricular septal defect, Hepatic failure, Hepatocellular carcinoma, Atrial septal defect, Tetra... |
OMIM:118450 |
Larsen Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:150250 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Pleural effusion, Subvalvul... |
OMIM:182250 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Intestinal malrotation |
OMIM:102500 |
Hydrolethalus Syndrome 1 |
|
Complete atrioventricular canal defect, Stillbirth, Ventricular septal defect, Polyhydramnios |
OMIM:236680 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventricular septal defect, Feeding difficulties in infancy, Gastroesophageal reflux, Constipation... |
ORPHA:513456 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Atrial septal defect, Gastroesophageal reflux, Partial anomalous pulmonary venous return, Ventric... |
OMIM:301044 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Ventricular septal defect, Prolonged prothrombin time, Gastroesophageal reflux, Bleeding with min... |
OMIM:619525 |
Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Tetralogy of Fallot, Ventricular septal defect |
OMIM:154400 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Gastrointestinal stroma tumor, Renovascular hypertension, Abnormal he... |
ORPHA:97685 |
Chromosome 16P13.3 Duplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613458 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot, Poo... |
OMIM:309500 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia |
OMIM:616145 |
Ulnar-Mammary Syndrome |
|
Pyloric stenosis, Arrhythmia, Ventricular septal defect |
OMIM:181450 |
Atypical Werner Syndrome |
|
Aortic valve calcification, Aortic valve stenosis, Mitral valve prolapse |
ORPHA:79474 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:613884 |
Genitopatellar Syndrome |
|
Ventricular septal defect, Polyhydramnios, Malrotation of small bowel, Feeding difficulties, Dysp... |
OMIM:606170 |
Cornelia De Lange Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Feeding difficulties in infancy, Pyloric steno... |
ORPHA:199 |
Omodysplasia 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258315 |
Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect |
OMIM:619727 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Pyloric stenosis, Hydrops fetalis... |
OMIM:216340 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect |
ORPHA:1934 |
Vater/Vacterl Association |
|
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Transposition of the gr... |
OMIM:192350 |
Peters-Plus Syndrome |
|
Ventricular septal defect, Polyhydramnios, Feeding difficulties in infancy, Pulmonic stenosis, At... |
OMIM:261540 |
Stickler Syndrome |
|
Mitral valve prolapse |
ORPHA:828 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Anemia, Mitral valve prolapse |
OMIM:130050 |
Coffin-Siris Syndrome 1 |
|
Ventricular septal defect, Intestinal malrotation, Duodenal ulcer, Feeding difficulties in infanc... |
OMIM:135900 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |
Kabuki Syndrome 1 |
|
Ventricular septal defect, Intestinal malrotation, Malabsorption, Feeding difficulties in infancy... |
OMIM:147920 |
Townes-Brocks Syndrome 1 |
|
Rectoperineal fistula, Ventricular septal defect, Tracheoesophageal fistula, Gastroesophageal ref... |
OMIM:107480 |
Wolf-Hirschhorn Syndrome |
|
Atrial septal defect, Gastroesophageal reflux, Malrotation of small bowel, Ventricular septal defect |
OMIM:194190 |
Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect, Gastrostomy tube feeding in infancy |
ORPHA:434179 |
Sotos Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Pedal edema, Abnormal heart morphology, Feeding... |
ORPHA:821 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Atrial septal defect, Feeding difficulties, Ventricular septal defect, Dysphagia |
OMIM:619522 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Constipation, Ventricular septal defect |
OMIM:620330 |
Orofaciodigital Syndrome Xiv |
|
Atrial septal defect, Ventricular septal defect |
OMIM:615948 |
Pallister-Hall Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Oligohydramnios |
ORPHA:672 |
Proboscis Lateralis |
|
Ventricular septal defect |
ORPHA:141099 |
Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, F... |
OMIM:601803 |
Microphthalmia, Syndromic 1 |
|
Aganglionic megacolon, Pyloric stenosis, Rectal prolapse, Bicuspid aortic valve |
OMIM:309800 |
Roberts-Sc Phocomelia Syndrome |
|
Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios |
OMIM:268300 |
Vascular Ehlers-Danlos Syndrome |
|
Umbilical hernia, Abnormal heart valve morphology, Mitral valve prolapse |
ORPHA:286 |
Craniofacial Microsomia 1 |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:164210 |