SE-ATLAS

PEHO syndrome Immunodeficiency due to a complement cascade protein anomaly Von Willebrand disease type 3 NLRP3-associated autoinflammatory disease Acute promyelocytic leukemia Bartter syndrome Primary immunodeficiency PAPA syndrome Subependymal giant cell astrocytoma Rare epilepsy Beckwith-Wiedemann syndrome Short-limb skeletal dysplasia with severe combined immunodeficiency Multiple intestinal atresia Schwartz-Jampel syndrome Moynahan syndrome Severe hemophilia B Glomerular disease Miller-Dieker syndrome Graft versus host disease Oculocerebrorenal syndrome of Lowe Mild hemophilia B Genetic susceptibility to infections due to particular pathogens Kleefstra syndrome due to 9q34 microdeletion Moderate hemophilia B Severe hemophilia A Isolated osteopoikilosis Lupus erythematosus panniculitis Spondyloepiphyseal dysplasia tarda Hemophilia B Hemophilia A Moderate hemophilia A Chronic cutaneous lupus erythematosus Neonatal lupus erythematosus Acute myeloid leukemia with t(8;16)(p11;p13) translocation Mild hemophilia A Autoimmune polyendocrinopathy type 2 DITRA Primary hyperoxaluria Wolf-Hirschhorn syndrome Dysosteosclerosis CNTNAP2-related developmental and epileptic encephalopathy Oculocerebrocutaneous syndrome Oligoastrocytoma Rasmussen subacute encephalitis Acute myeloid leukemia with t(8;21)(q22;q22) translocation Dendritic cell sarcoma not otherwise specified Precursor T-cell acute lymphoblastic leukemia Tick-borne encephalitis T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Hypophosphatasia DEND syndrome Melnick-Needles syndrome Primary immunodeficiency with predisposition to severe viral infection Oligoarticular juvenile idiopathic arthritis Melorheostosis PLCG2-associated antibody deficiency and immune dysregulation Other immunodeficiency syndromes due to defects in innate immunity Unspecified juvenile idiopathic arthritis Inherited acute myeloid leukemia Inverted duplicated chromosome 15 syndrome Benign familial infantile epilepsy Isovaleric acidemia Systemic-onset juvenile idiopathic arthritis Infantile spasms-broad thumbs syndrome Familial partial epilepsy Astroblastoma Benign familial neonatal-infantile seizures Paroxysmal nocturnal hemoglobinuria Hemophilia Gray platelet syndrome Polyarticular juvenile idiopathic arthritis Cystic fibrosis Epilepsy-telangiectasia syndrome Severe combined immunodeficiency due to DNA-PKcs deficiency Autosomal dominant polycystic kidney disease Acute myeloid leukemia with CEBPA somatic mutations Autoinflammatory syndrome with immune deficiency Autosomal recessive polycystic kidney disease Osteomesopyknosis High-grade astrocytoma Osteopathia striata-cranial sclerosis syndrome Psoriasis-related juvenile idiopathic arthritis Neonatal epilepsy syndrome Enthesitis-related juvenile idiopathic arthritis Dent disease type 1 Childhood-onset epilepsy syndrome Juvenile xanthogranuloma Infantile epilepsy syndrome Small cell lung cancer Adolescent-onset epilepsy syndrome Syndrome with combined immunodeficiency Primary immunodeficiency due to a defect in adaptive immunity Alport syndrome Familial hyperinsulinism Tetrasomy 12p Epilepsy syndrome Bleeding disorder in hemophilia A carriers Chromosomal anomaly with epilepsy as a major feature Neurocutaneous syndrome with epilepsy Angelman syndrome Kimura disease Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Ring chromosome 14 syndrome Reticular dysgenesis Giant cell glioblastoma W syndrome Monogenic disease with epilepsy Bleeding disorder in hemophilia B carriers Acute myeloid leukemia with recurrent genetic anomaly Buschke-Ollendorff syndrome Cerebral malformation with epilepsy Ring chromosome 20 syndrome Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes Pycnodysostosis Chronic graft versus host disease Acute graft versus host disease Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) PHACE syndrome Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent Anaplastic astrocytoma Aromatase excess syndrome Dermatomyositis Von Willebrand disease Gitelman syndrome Acute myeloid leukemia with 11q23 abnormalities Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor Diffuse astrocytoma Combined T and B cell immunodeficiency Acute undifferentiated leukemia Von Willebrand disease type 1 Glioblastoma Cerebral diseases of vascular origin with epilepsy Unclassified acute myeloid leukemia Familial glucocorticoid deficiency Acute biphenotypic leukemia Low-grade astrocytoma Bilineal acute leukemia Fragile X syndrome Infectious disease with epilepsy Von Willebrand disease type 2 Juvenile idiopathic arthritis Protoplasmic astrocytoma Immunodeficiency predominantly affecting antibody production Astrocytoma Fibrillary astrocytoma Acute panmyelosis with myelofibrosis Rhabdomyosarcoma Ependymoblastoma Ataxia-telangiectasia Simpson-Golabi-Behmel syndrome Acute myeloid leukemia and myelodysplastic syndromes related to radiation Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome Immune dysregulation disease with immunodeficiency Therapy related acute myeloid leukemia and myelodysplastic syndrome Quantitative and/or qualitative congenital phagocyte defect Gemistocytic astrocytoma Acute basophilic leukemia Pilocytic astrocytoma Neonatal inflammatory skin and bowel disease Primary immunodeficiency due to a defect in innate immunity Acute monoblastic/monocytic leukemia Medulloepithelioma of the central nervous system Acute leukemia of ambiguous lineage Melorheostosis with osteopoikilosis PEHO-like syndrome Chronic granulomatous disease Aneurysm of sinus of Valsalva Rare pulmonary hypertension Coronary artery congenital malformation Left sided atrial isomerism Transposition of the great arteries Levocardia Supravalvular aortic stenosis Patent arterial duct Hypoplastic left heart syndrome Tricuspid valve agenesis Congenital tricuspid stenosis Congenital mitral valve insufficiency and/or stenosis Mitral valve agenesis Congenital anomaly of the inferior vena cava Atrial septal defect, coronary sinus type Persistent left superior vena cava connecting through coronary sinus to left-sided atrium Azygos continuation of the inferior vena cava Truncus arteriosus Congenital renal artery stenosis Congenitally uncorrected transposition of the great arteries Pulmonary artery/pulmonary branch anomaly Bockenheimer syndrome Ventricular septal defect Congenital aortopulmonary window Congenital heart block Scimitar syndrome Congenital aortic valve insufficiency Congenital aortic valve atresia Bicuspid aortic valve Tetralogy of Fallot Congenital mitral stenosis Congenital coronary artery aneurysm Congenital anomaly of superior vena cava Right sided atrial isomerism Cor triatriatum sinister Atrial septal defect, sinus venosus type Atrial septal defect, ostium primum type Persistent left superior vena cava connecting to the roof of left-sided atrium Agenesis of the superior vena cava Congenital total pulmonary venous return anomaly Congenital partial pulmonary venous return anomaly Uhl anomaly Ebstein malformation of the tricuspid valve Double outlet right ventricle Double outlet left ventricle Infective endocarditis Heart position anomaly Idiopathic recurrent pericarditis Aorta coarctation Eisenmenger syndrome Interatrial communication Pulmonary valve agenesis Pulmonary arteriovenous malformation Dextrocardia Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Congenital pulmonary venous return anomaly Glutaryl-CoA dehydrogenase deficiency Rheumatic fever Propionic acidemia Metabolic diseases with epilepsy Supravalvular pulmonary stenosis Very long chain acyl-CoA dehydrogenase deficiency Phenylketonuria Valvular pulmonary stenosis Galactosemia Disorder of carnitine cycle and carnitine transport Hypoplastic right heart syndrome Maple syrup urine disease Medium chain acyl-CoA dehydrogenase deficiency Inflammatory and autoimmune disease with epilepsy Atrial septal defect, ostium secundum type Glycogen storage disease Disorder of purine or pyrimidine metabolism Hereditary fructose intolerance Congenital aortic valve stenosis