{"orpha":459348,"name":"Immunodeficiency due to a complement regulatory deficiency","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-459348/","orphanet_url":"https://www.orpha.net/en/disease/detail/459348","names":{"fr":{"name":"Déficit immunitaire par déficit d'une protéine régulatrice de la cascade du complément","synonyms":["Immunodéficience due à un déficit d'une protéine régulatrice de la cascade du complément"]},"de":{"name":"Immundefekt durch regulatorischen Proteinen-Mangel des Komplementsystems"},"es":{"name":"Inmunodeficiencia por una deficiencia reguladora del complemento"},"it":{"name":"Immunodeficienza da deficit della proteina regolatrice del complemento"},"nl":{"name":"Immuundeficiëntie door deficiëntie van een regulatorische component van complementsysteem"},"pt":{"name":"Imunodeficiência por deficiência da regulação do complemento"},"pl":{"name":"Niedobór odporności spowodowany deficytem regulacji układu dopełniacza"},"cs":{"name":"Imunodeficit způsobený deficitem regulátorů komplementu"},"uk":{"name":"Імунодефіцит, зумовлений дефіцитом регуляторного комплементу"},"zh":{"name":"补体调节缺陷引起的免疫缺陷病"},"tr":{"name":"Kompleman düzenleyici eksikliğe bağlı immün yetmezlik"}},"xrefs":[{"source":"MONDO","code":"18727","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681111","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":101992,"name":"Immunodeficiency due to a complement cascade protein anomaly","classifications":[156,195]}],"children":[{"orpha":200421,"name":"Immunodeficiency with factor H anomaly","type":"Disease"},{"orpha":200418,"name":"Immunodeficiency with factor I anomaly","type":"Disease"},{"orpha":169464,"name":"Primary CD59 deficiency","type":"Disease"},{"orpha":2966,"name":"Properdin deficiency","type":"Disease"},{"orpha":169467,"name":"Recurrent Neisseria infections due to factor D deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}