{"orpha":155899,"name":"Mandibulofacial dysostosis","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Bilateral and symmetric oto-mandibular dysplasia"],"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-155899/","orphanet_url":"https://www.orpha.net/en/disease/detail/155899","names":{"fr":{"name":"Dysostose mandibulo-faciale","synonyms":["Dysplasie oto-mandibulaire bilatérale et symétrique"]},"de":{"name":"Dysostose, mandibulofaziale","synonyms":["Dysplasie, otomandibuläre, bilaterale und symmetrische"]},"es":{"name":"Disóstosis mandibulofacial","synonyms":["Displasia oromandibular bilateral y simétrica","Displasia otomandibular bilateral y simétrica"]},"it":{"name":"Disostosi mandibolofacciale","synonyms":["Displasia otomandibolare bilaterale e simmetrica"]},"nl":{"name":"Mandibulofaciale dysostose","synonyms":["Bilaterale en symmetrische otomandibulaire dysplasie"]},"pt":{"name":"Disostose mandibulofacial"},"pl":{"name":"Dyzostoza żuchwowo-twarzowa","synonyms":["Obustronna i symetryczna dysplazja uszno-żuchwowa"]},"cs":{"name":"Mandibulofaciální dysostóza","synonyms":["Bilaterální a symetrická oto-mandibulární dysplázie"]},"uk":{"name":"Мандибулофаціальний дизостоз","synonyms":["Двобічна та симетрична дисплазія нижньої щелепи"]},"zh":{"name":"下颌骨颜面发育不全","synonyms":["双侧对称性耳-下颌发育不良"]},"tr":{"name":"Mandibulofasiyal dizostoz","synonyms":["Bilateral ve simetrik oto-mandibular displazi"]}},"xrefs":[{"source":"ICD-10","code":"Q75.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD2F.16","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"470731247"},{"source":"MONDO","code":"0015483","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15483","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D008342","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10051456","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":155896,"name":"Otomandibular dysplasia","classifications":[147,156,199,200,209]}],"children":[{"orpha":950,"name":"Acrodysostosis","type":"Malformation syndrome"},{"orpha":443995,"name":"Mandibulofacial dysostosis with alopecia","type":"Malformation syndrome"},{"orpha":357158,"name":"Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome","type":"Disease"},{"orpha":861,"name":"Treacher-Collins syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}