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 Neonatale Haut- und Darmerkrankung, entzündliche Primärer Immundefekt durch Anomalie des angeborenen Immunsystems Leukämie, akute monoblastische Medulloepitheliom des Zentralnervensystems Leukämie, akute, gemischter Linienzugehörigkeit Melorheostose mit Osteopoikilosis PEHO-ähnliches Syndrom Granulomatose, chronische Sinus-Valsalva-Aneurysma, kongenitales Pulmonale Hypertonie, seltene Fehlbildung der Koronararterien, kongenitale Linksatrialer Isomerismus Transposition der großen Arterien Laevokardie Aortenstenose, supravalvuläre Persistierender Ductus arteriosus Hypoplastisches Linksherzsyndrom Trikuspidalklappen-Agenesie Trikuspidalklappenstenose, kongenitale Mitralklappeninsuffizienz oder -stenose, kongenitale Mitralklappenagenesie Vena cava inferior, kongenitale Anomalie der Atriumseptumdefekt, Koronarsinus Typ Persistenz der linken Vena cava superior mit Mündung in den linken Vorhof über den Koronarsinus Azygoskontinuität der Vena cava inferior Truncus arteriosus communis Nierenarterienstenose, kongenitale Kongenitale unkorrigierte Transposition der großen Arterien Pulmonalarterie/Pulmonalishauptstamm, Anomalie der Bockenheimer-Syndrom Ventrikelseptumdefekt Aorto-pulmonale Fenster, kongenitales Herzblock, kongenitaler Scimitar-Syndrom Aortenklappeninsuffizienz, kongenitale Aortenklappenatresie, kongenitale Aortenklappe, bikuspide Fallot-Tetralogie Mitralstenose, kongenitale Koronararterienaneurysma, kongenitales Vena cava superior, kongenitale Anomalie der Rechtsatriale Isomerie Cor triatriatum sinister Atriumseptumdefekt, Sinus venosus Typ Atriumseptumdefekt, Ostium primum Typ Persistenz der linken Vena cava superior mit Verbindung zum dorsalen Bereich des linken Vorhofes Vena cava superior, Agenesie der Lungenvenenfehlmündung, kongenitale totale Lungenvenenfehlmündung, kongenitale partielle Uhl-Anomalie Ebstein-Anomalie der Trikuspidalklappe Doppelausstromventrikel, rechter Doppelausstromventrikel, linker Endokarditis, infektiöse Herzposition, anomale Perikarditis, idiopathische rekurrente Aortenisthmusstenose Eisenmenger-Syndrom Interatriale Kommunikation Pulmonalklappenagenesie Fehlbildung, arteriovenöse pulmonale Dextrokardie Langketten-3-Hydroxyacyl-CoA-Dehydrogenase-Mangel Lungenvenenfehlmündung, kongenitale Glutaryl-CoA-Dehydrogenase-Mangel Rheumatisches Fieber Propionazidämie Stoffwechselstörung mit Epilepsie Pulmonalstenose, supravalvuläre Sehr langkettige-Acyl-CoA-Dehydrogenase-Mangel Phenylketonurie Valvuläre Pulmonalstenose Galaktosämie Carnitin-Stoffwechselstörung Hypoplastische Rechtsherzsyndrom Ahornsirup-Krankheit Mittelketten-Acyl-CoA-Dehydrogenase-Mangel Inflammatorische und autoimmune Krankheit mit Epilepsie Atriumseptumdefekt, Sekundum-Typ Glykogenose Purin/Pyrimidin-Stoffwechselstörung Fruktoseintoleranz, hereditäre Aortenklappenstenose, kongenitale