{"orpha":596008,"name":"Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-596008/","orphanet_url":"https://www.orpha.net/en/disease/detail/596008","names":{"fr":{"name":"Syndrome d'Antley-Bixler sans anomalie génitale et trouble de la stéroïdogenèse"},"de":{"name":"Antley-Bixler-Syndrom ohne Genialanomalien und Steroidstoffwechselstörung"},"es":{"name":"Síndrome de Antley-Bixler sin anomalías genitales o trastorno de la esteroidogénesis"},"it":{"name":"Sindrome di Antley-Bixler senza anomalie genitali o disturbi della steroidogenesi"},"nl":{"name":"Syndroom van Antley-Bixler zonder genitale anomalie of stoornis van steroïdogenese"},"pt":{"name":"Síndrome Antley-Bixler sem anomalias genitais ou distúrbio da génese dos esteróides"},"pl":{"name":"Zespół Antleya i Bixlera bez wad narządów płciowych zewnętrznych lub bez zaburzeń steroidogenezy"},"cs":{"name":"Antley-Bixlerův syndrom bez genitální anomálie nebo poruchy steroidogeneze"},"uk":{"name":"Синдром Ентлі-Бікслера без генітальної аномалії або порушення стероїдогенезу"},"zh":{"name":"Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis"},"tr":{"name":"Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis"}},"xrefs":[{"source":"OMIM","code":"207410","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.GY","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0020667","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2936791","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":83,"name":"Antley-Bixler syndrome","classifications":[147,156,181,199]}],"children":[],"genes":[{"symbol":"FGFR2","name":"fibroblast growth factor receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301592[PMID]","hgnc":"3689","ensembl":"ENSG00000066468","omim":"176943","loci":["10q26.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}