{"orpha":674648,"name":"Syndrome with congenital phagocyte functional defect as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Syndrome with congenital functional defect of phagocyte as a major feature","Syndrome with constitutional functional phagocyte defect as a major feature"],"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-674648/","orphanet_url":"https://www.orpha.net/en/disease/detail/674648","names":{"fr":{"name":"Syndrome avec déficit fonctionnel congénital des phagocytes comme manifestation majeure","synonyms":["Syndrome avec déficit fonctionnel constitutionnel des phagocytes comme manifestation majeure"]},"de":{"name":"Syndrom mit kongenitalem Phagozyten-Funktionsdefekt als Hauptmerkmal","synonyms":["Syndrom mit kongenitalem Funktionsdefekt der Phagozyten als Hauptmerkmal","Syndrom mit konstitutionellem funktionellem Phagozytendefekt"]},"es":{"name":"Síndrome con defecto funcional congénito de los fagocitos como característica principal","synonyms":["Síndrome con defecto funcional constitucional de los fagocitos como característica principal"]},"it":{"name":"Sindrome con difetto funzionale congenito della fagocitosi come caratteristica principale","synonyms":["Sindrome con difetto funzionale congenito della fagocitosi come caratteristica principale","Sindrome con difetto funzionale costituzionale della fagocitosi come caratteristica principale"]},"nl":{"name":"Syndroom met congenitaal functioneel defect van fagocyt als hoofdkenmerk","synonyms":["Syndroom met constitutioneel functioneel defect van fagocyt als hoofdkenmerk"]},"pt":{"name":"Síndrome com defeito funcional fagocítico congénito como característica principal","synonyms":["Síndrome com defeito constitucional funcional fagocítico","Síndrome com defeito funcional dos fagócitos congénito como característica principal"]},"pl":{"name":"Zespół z wrodzonym defektem czynnościowym fagocytów jako główną cechą","synonyms":["Syndrome with congenital functional defect of phagocyte as a major feature","Syndrome with constitutional functional phagocyte defect as a major feature"]},"cs":{"name":"Syndrom s vrozeným funkčním defektem fagocytů jako hlavním příznakem","synonyms":["Syndrome with congenital functional defect of phagocyte as a major feature","Syndrome with constitutional functional phagocyte defect as a major feature"]},"uk":{"name":"Синдром з вродженим функціональним дефектом фагоцитів як основною ознакою","synonyms":["Синдром з вродженим функціональним дефектом фагоцитів як основною ознакою","Синдром з конституційним функціональним дефектом фагоцитів як основною ознакою"]}},"xrefs":[{"source":"UMLS","code":"C5925089","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183681,"name":"Congenital functional phagocyte defect","classifications":[156,195]}],"children":[{"orpha":674653,"name":"Actinomyopathy-associated syndromic thrombocytopenia","type":"Disease"},{"orpha":447740,"name":"Aggressive periodontitis","type":"Disease"},{"orpha":2968,"name":"Leukocyte adhesion deficiency","type":"Disease"},{"orpha":678,"name":"Papillon-Lefèvre syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}