SE-ATLAS

Immunodeficiency due to a complement cascade protein anomaly PEHO syndrome Von Willebrand disease type 3 Acute promyelocytic leukemia NLRP3-associated autoinflammatory disease Primary immunodeficiency Bartter syndrome 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 Lupus erythematosus panniculitis Isolated osteopoikilosis 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 Rare gastroenterologic disease 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 PLCG2-associated antibody deficiency and immune dysregulation Oligoarticular juvenile idiopathic arthritis Melorheostosis Other immunodeficiency syndromes due to defects in innate immunity Unspecified juvenile idiopathic arthritis Inverted duplicated chromosome 15 syndrome Inherited acute myeloid leukemia Isovaleric acidemia Benign familial infantile epilepsy Systemic-onset juvenile idiopathic arthritis Infantile spasms-broad thumbs syndrome Familial partial epilepsy Astroblastoma Benign familial neonatal-infantile seizures Paroxysmal nocturnal hemoglobinuria Gray platelet syndrome Hemophilia Cystic fibrosis Polyarticular juvenile idiopathic arthritis 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 Osteomesopyknosis Autosomal recessive polycystic kidney disease High-grade astrocytoma Osteopathia striata-cranial sclerosis syndrome Psoriasis-related juvenile idiopathic arthritis Neonatal epilepsy syndrome Enthesitis-related juvenile idiopathic arthritis Juvenile xanthogranuloma Dent disease type 1 Childhood-onset epilepsy syndrome Infantile epilepsy syndrome Small cell lung cancer Adolescent-onset epilepsy syndrome Syndrome with combined immunodeficiency Alport syndrome Primary immunodeficiency due to a defect in adaptive immunity Rare hematologic disease Familial hyperinsulinism Tetrasomy 12p Epilepsy syndrome Chromosomal anomaly with epilepsy as a major feature Bleeding disorder in hemophilia A carriers Neurocutaneous syndrome with epilepsy Angelman syndrome Kimura disease Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Reticular dysgenesis Ring chromosome 14 syndrome Monogenic disease with epilepsy Giant cell glioblastoma W syndrome 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 myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Acute graft versus host disease Anaplastic astrocytoma PHACE syndrome Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent Aromatase excess syndrome Dermatomyositis Von Willebrand disease Gitelman syndrome Acute myeloid leukemia with 11q23 abnormalities Diffuse astrocytoma Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor Acute undifferentiated leukemia Combined T and B cell immunodeficiency Cerebral diseases of vascular origin with epilepsy Von Willebrand disease type 1 Glioblastoma Unclassified acute myeloid leukemia Acute biphenotypic leukemia Familial glucocorticoid deficiency Bilineal acute leukemia Low-grade astrocytoma 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 Acute myeloid leukemia and myelodysplastic syndromes related to radiation Simpson-Golabi-Behmel syndrome 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 Pilocytic astrocytoma Acute basophilic leukemia Neonatal inflammatory skin and bowel disease Acute monoblastic/monocytic leukemia Primary immunodeficiency due to a defect in innate immunity Acute leukemia of ambiguous lineage Medulloepithelioma of the central nervous system Melorheostosis with osteopoikilosis Chronic granulomatous disease PEHO-like syndrome Congenital aortic valve stenosis 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 Dextrocardia 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 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