{"orpha":261638,"name":"Okihiro syndrome due to 20q13 microdeletion","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Duane-radial ray syndrome due to monosomy 20q13","Okihiro syndrome due to del(20)(q13)","Okihiro syndrome due to monosomy 20q13"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-261638/","orphanet_url":"https://www.orpha.net/en/disease/detail/261638","names":{"fr":{"name":"Syndrome d'Okihiro dû à une microdélétion 20q13","synonyms":["Syndrome d'Okihiro dû à une del(20)(q13)","Syndrome d'Okihiro dû à une monosomie 20q13","Syndrome de Duane-anomalie du rayon radial dû à une monosomie 20q13"]},"de":{"name":"Okihiro-Syndrom durch Monosomie 20q13","synonyms":["Duane-Retraktionssyndrom durch Monosomie 20q13","Okihiro-Syndrom bei Del(20)(q13)"]},"es":{"name":"Síndrome de Okihiro por microdeleción 20q13","synonyms":["Síndrome de Duane-anomalía del rayo radial por monosomía 20q13","Síndrome de Okihiro por del(20)(q13)","Síndrome de Okihiro por monosomía 20q13"]},"it":{"name":"Sindrome di Okihiro da microdelezione 20q13","synonyms":["Sindrome di Duane - anomalia del raggio radiale da monosomia 20q13","Sindrome di Okihiro da del(20)(q13)","Sindrome di Okihiro da monosomia 20q13"]},"nl":{"name":"Syndroom van Okihiro door 20q13-microdeletie","synonyms":["Duane-'radial ray'-syndroom door monosomie 20q13","Syndroom van Okihiro door del(20)(q13)","Syndroom van Okihiro door monosomie 20q13"]},"pt":{"name":"Síndrome Okihiro por microdeleção 20q13","synonyms":["Síndrome Okihiro por monossomia 20q13"]},"pl":{"name":"Zespół Okihiro z powodu mikrodelecji 20q13","synonyms":["Zespół Okihiro z powodu del(20)(q13)","Zespół Okihiro z powodu monosomii 20q13"]},"cs":{"name":"Okihirův syndrom způsobený 20q13 mikrodelecí","synonyms":["Duanova anomálie s abnormalitami radiálního paprsku, způsobená monozomií 20q13","Okihirův syndrom způsobený del(20)(q13)","Okihirův syndrom způsobený monozomií 20q13"]},"uk":{"name":"Синдром Окіхіро, зумовлений мікроделецією 20q13","synonyms":["Синдром Дуейна-радіального променя, зумовлений моносомією 20q13","Синдром Окіхіро через дефект del(20)(q13)","Синдром Окіхіро внаслідок моносомії 20q13"]},"zh":{"name":"20q13微缺失所致Okihiro综合征","synonyms":["20q13单体所致Duane-radial ray综合征"]},"tr":{"name":"20q13 mikrodelesyonuna bağlı Okihiro sendromu","synonyms":["Del (20) (q13) nedeniyle Okihiro sendromu","Monozomi 20q13'e bağlı Okihiro sendromu","Monozomi 20q13'e 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":"LD44.L0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1107706171"},{"source":"MONDO","code":"0016863","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679682","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]},{"orpha":262164,"name":"Partial deletion of the long arm of chromosome 20 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"SALL4","name":"spalt like transcription factor 4","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"16086360[PMID]_20301547[PMID]","hgnc":"15924","ensembl":"ENSG00000101115","omim":"607343","loci":["20q13.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}