{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-139036/","orphanet_url":"https://www.orpha.net/en/disease/detail/139036","names":{"fr":{"name":"Syndrome des arcs branchiaux ou syndrome oro-acral"},"de":{"name":"Kiemenbogen- oder oroakrales-Syndrom"},"es":{"name":"Síndrome del arco branquial u oral-acro"},"it":{"name":"Sindrome dell'arco branchiale o orale-acrale"},"nl":{"name":"Kieuwboog- of oraal-acraal-syndroom"},"pt":{"name":"Síndrome dos arcos branquiais ou oral-acrais"},"pl":{"name":"Zespół łuku skrzelowego lub ustno-kończynowy"},"cs":{"name":"Syndromy s poruchou vývoje žaberních oblouků nebo orálně-akrálních oblastí"},"uk":{"name":"Зяброва дуга або орально-акральний синдром"},"zh":{"name":"鳃弓或口腔-肢端综合征"},"tr":{"name":"Brankial ark veya oral akral sendrom"}},"xrefs":[{"source":"MONDO","code":"15334","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680620","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19907","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93890,"name":"Rare developmental defect during embryogenesis","classifications":[147]}],"children":[{"orpha":567,"name":"22q11.2 deletion syndrome","type":"Malformation syndrome"},{"orpha":1786,"name":"Acrofacial dysostosis, Catania type","type":"Malformation syndrome"},{"orpha":64542,"name":"Acrofacial dysostosis, Kennedy-Teebi type","type":"Malformation syndrome"},{"orpha":1787,"name":"Acrofacial dysostosis, Palagonia type","type":"Malformation syndrome"},{"orpha":1788,"name":"Acrofacial dysostosis, Rodríguez type","type":"Malformation syndrome"},{"orpha":952,"name":"Acrofacial dysostosis, Weyers type","type":"Malformation syndrome"},{"orpha":137888,"name":"Auriculocondylar syndrome","type":"Malformation syndrome"},{"orpha":107,"name":"BOR syndrome","type":"Malformation syndrome"},{"orpha":1406,"name":"Charlie M syndrome","type":"Malformation syndrome"},{"orpha":141132,"name":"Craniofacial microsomia","type":"Malformation syndrome"},{"orpha":2554,"name":"Ear-patella-short stature syndrome","type":"Malformation syndrome"},{"orpha":231742,"name":"Epibulbar lipodermoid-preauricular appendage-polythelia syndrome","type":"Malformation syndrome"},{"orpha":1791,"name":"Frontofacionasal dysplasia","type":"Malformation syndrome"},{"orpha":306542,"name":"Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome","type":"Malformation syndrome"},{"orpha":2213,"name":"Hypertelorism-microtia-facial clefting syndrome","type":"Malformation syndrome"},{"orpha":989,"name":"Hypoglossia-hypodactyly syndrome","type":"Malformation syndrome"},{"orpha":1296,"name":"Lambert syndrome","type":"Malformation syndrome"},{"orpha":357158,"name":"Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome","type":"Disease"},{"orpha":79113,"name":"Mandibulofacial dysostosis-microcephaly syndrome","type":"Malformation syndrome"},{"orpha":570,"name":"Moebius syndrome","type":"Disease"},{"orpha":245,"name":"Nager syndrome","type":"Malformation syndrome"},{"orpha":2549,"name":"Oculoauriculovertebral spectrum with radial defects","type":"Malformation syndrome"},{"orpha":140997,"name":"Orofaciodigital syndrome","type":"Clinical group"},{"orpha":2792,"name":"Otofaciocervical syndrome","type":"Malformation syndrome"},{"orpha":90650,"name":"Otopalatodigital syndrome type 1","type":"Malformation syndrome"},{"orpha":90652,"name":"Otopalatodigital syndrome type 2","type":"Malformation syndrome"},{"orpha":2439,"name":"Patterson-Stevenson-Fontaine syndrome","type":"Malformation syndrome"},{"orpha":246,"name":"Postaxial acrofacial dysostosis","type":"Malformation syndrome"},{"orpha":2063,"name":"Splenogonadal fusion-limb defects-micrognathia syndrome","type":"Malformation syndrome"},{"orpha":861,"name":"Treacher-Collins syndrome","type":"Malformation syndrome"},{"orpha":3456,"name":"Wildervanck syndrome","type":"Malformation syndrome"},{"orpha":1131,"name":"X-linked mandibulofacial dysostosis","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}