{"orpha":63269,"name":"Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Ambiguous genitalia-disordered steroidogenesis Antley-Bixler syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-63269/","orphanet_url":"https://www.orpha.net/en/disease/detail/63269","names":{"fr":{"name":"Syndrome d'Antley-Bixler avec anomalie génitale et trouble de la stéroïdogenèse","synonyms":["Syndrome d'Antley-Bixler avec ambiguïté génitale-troubles de la stéroïdogenèse"]},"de":{"name":"Antley-Bixler-Syndrom mit Genitalanomalien und Steroidstoffwechselstörung","synonyms":["Antley-Bixler-Syndrom, POR-abhängiges","Intersexuelles Genitale-Störung der Steroidgenesis-Antley-Bixler ähnliches-Syndrom"]},"es":{"name":"Síndrome de Antley-Bixler con anomalías genitales y alteración de la esteroidogénesis","synonyms":["Síndrome de Antley-Bixler-genitales ambiguos-alteración de la esteroidogénesis"]},"it":{"name":"Sindrome di Antley-Bixler con anomalia genitale e difetto della steroidogenesi","synonyms":["Sindrome Antley-Bixler-simile - genitali ambigui - difetto della steroidogenesi"]},"nl":{"name":"Syndroom van Antley-Bixler met genitale anomalie en stoornis van steroïdogenese","synonyms":["Ambigue genitaliën - verstoorde steroïdogenese-Antley-Bixler-achtig syndroom"]},"pt":{"name":"Síndrome Antley-Bixler com anomalia genital e disfunção da esteroidogénese","synonyms":["Síndrome Antley-Bixler - ambiguidade genital - anomalias da esteroidogénese"]},"pl":{"name":"Zespół Antley'a i Bixlera z wadą narządów płciowych i zaburzeniami steroidogenezy","synonyms":["Zespół Antley'a i Bixlera typu 2","Zespół Antley'a i Bixlera związany z POR","Zespół podobny do zespołu Antley'a i Bixlera-obojnacze narządy płciowe-zaburzenia steroidogenezy"]},"cs":{"name":"Antleyho-Bixlerův syndrom s anomáliemi genitálu a poruchou steroidogeneze","synonyms":["Syndrom podobný Antleyho-Bixlerovu, zahrnující neurčité pohlaví a porušenou steroidogenezi","Antleyho-Bixlerův syndrom, typ 2","POR-vázaný Antleyho-Bixlerův syndrom","Antley-Bixlerův syndrom s anomáliemi genitálu a poruchou steroidogeneze","Syndrom podobný Antley-Bixlerovu, zahrnující neurčité pohlaví a porušenou steroidogenezi","Antley-Bixlerův syndrom, typ 2","POR-vázaný Antley-Bixlerův syndrom"]},"uk":{"name":"Синдром Ентлі-Бікслера з аномалією геніталій та порушенням стероїдогенезу","synonyms":["Синдром невизначених геніталій- порушенного стероїдогенезу Ентлі-Бікслера"]},"zh":{"name":"Antley-Bixler综合征伴生殖器异常和类固醇激素紊乱","synonyms":["POR相关性Antley-Bixler综合征"]},"tr":{"name":"Genital anomali ve steroidogenez bozukluğu ile seyreden Antley-Bixler sendromu","synonyms":["Belirsiz genitalya bozuk steroidogenez Antley-Bixler benzeri sendrom","Antley-Bixler sendromu tip 2","Antley-Bixler sendromu, POR ile ilgili"]}},"xrefs":[{"source":"OMIM","code":"201750","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":"0008726","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150099","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90776,"name":"46,XX difference of sex development induced by fetal androgens excess","classifications":[147,156,185,193,205]},{"orpha":90786,"name":"46,XY difference of sex development due to adrenal and testicular steroidogenesis defect","classifications":[147,156,185,193,205,233]},{"orpha":83,"name":"Antley-Bixler syndrome","classifications":[147,156,181,199]},{"orpha":418,"name":"Congenital adrenal hyperplasia","classifications":[156,193]}],"children":[],"genes":[{"symbol":"POR","name":"cytochrome p450 oxidoreductase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"15483095[PMID]","hgnc":"9208","ensembl":"ENSG00000127948","omim":"124015","loci":["7q11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}