{"orpha":261647,"name":"Okihiro syndrome due to a point mutation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Duane-radial ray syndrome due to a point mutation"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-261647/","orphanet_url":"https://www.orpha.net/en/disease/detail/261647","names":{"fr":{"name":"Syndrome d'Okihiro dû à une mutation ponctuelle","synonyms":["Syndrome de Duane-anomalie du rayon radial dû à une mutation ponctuelle"]},"de":{"name":"Okihiro-Syndrom durch Punktmutationen","synonyms":["Duane-Retraktionssyndrom durch Punktmutationen"]},"es":{"name":"Síndrome de Okihiro por una mutación puntual","synonyms":["Síndrome de Duane del rayo radial por una mutación puntual"]},"it":{"name":"Sindrome di Okihiro da mutazione puntiforme","synonyms":["Sindrome di Duane - anomalia del raggio radiale da mutazione puntiforme"]},"nl":{"name":"Syndroom van Okihiro als gevolg van een puntmutatie","synonyms":["Duane-radiale lijnsyndroom als gevolg van een puntmutatie"]},"pt":{"name":"Síndrome Okihiro por uma mutação pontual"},"pl":{"name":"Zespół Okihiro z powodu mutacji punktowej","synonyms":["Duane-radial ray syndrome due to a point mutation"]},"cs":{"name":"Okihirův syndrom způsobený bodovou mutací","synonyms":["Duanova anomálie s abnormalitami radiálního paprsku, způsobená bodovou mutací"]},"uk":{"name":"Синдром Окіхіро, зумовлений точковою мутацією","synonyms":["Синдром Дуейна-радіального променя, спричинений точковою мутацією"]},"zh":{"name":"点突变所致Okihiro综合征","synonyms":["点突变所致Duane-radial ray综合征"]},"tr":{"name":"Nokta mutasyonuna bağlı Okihiro sendromu","synonyms":["Bir nokta mutasyonuna bağlı Duane-radyal ışın sendromu"]}},"xrefs":[{"source":"OMIM","code":"607323","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016864","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679683","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93293,"name":"Okihiro syndrome","classifications":[147,156,181,182,189,199,233]}],"children":[],"genes":[{"symbol":"SALL4","name":"spalt like transcription factor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16086360[PMID]_20301547[PMID]","hgnc":"15924","ensembl":"ENSG00000101115","omim":"607343","loci":["20q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}