{"orpha":1984,"name":"Fechtner syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Alport syndrome with leukocyte inclusions and macrothrombocytopenia"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to MYH9-related disease","url":"https://raremap.alftech.space/d/ORPHA-1984/","orphanet_url":"https://www.orpha.net/en/disease/detail/1984","names":{"fr":{"name":"Syndrome de Fechtner","synonyms":["Syndrome d'Alport avec inclusions leucocytaires et macrothrombocytopénie"]},"de":{"name":"Fechtner-Syndrom","synonyms":["Alport-Syndrom mit Leukozyteneinschlüssen und Makrothrombozytopenie"]},"es":{"name":"Síndrome de Fechtner"},"it":{"name":"Sindrome di Fechtner","synonyms":["Sindrome di Alport con inclusioni leucocitarie e macrotrombocitopenia"]},"nl":{"name":"Syndroom van Fechtner","synonyms":["Syndroom van Alport met leukocytinclusies en macrotrombocytopenie"]},"pt":{"name":"Síndrome Fechtner","synonyms":["Síndrome Alport com inclusões leucocitárias e macrotrombocitopenia"]},"pl":{"name":"Zespół Fechtnera","synonyms":["Zespół Alporta z wtrętami leukocytarnymi i makrotrombocytopenią"]},"cs":{"name":"Fechtnerův syndrom","synonyms":["Alportův syndrom provázený makrotrombocytopenií a inkluzemi v leukocytech"]},"uk":{"name":"Синдром Фехтнера","synonyms":["Синдром Альпорта з лейкоцитарними включеннями та макротромбоцитопенією"]},"zh":{"name":"Fechtner综合征","synonyms":["Alport综合征伴白细胞包涵体和巨血小板减少症"]},"tr":{"name":"Fechtner sendromu","synonyms":["Lökosit inklüzyonları ve makrotrombositopeni ile seyreden Alport sendromu"]}},"xrefs":[{"source":"MeSH","code":"C537078","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0403445","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":182050,"name":"MYH9-related syndromic thrombocytopenia"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}