{"orpha":93453,"name":"Dysostosis with predominant craniofacial involvement","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-93453/","orphanet_url":"https://www.orpha.net/en/disease/detail/93453","names":{"fr":{"name":"Dysostose craniofaciale"},"de":{"name":"Dysostose mit vorwiegend kraniofazialer Beteiligung"},"es":{"name":"Disostosis con afectación predominantemente craneofacial"},"it":{"name":"Disostosi con prevalente coinvolgimento craniofacciale"},"nl":{"name":"Dysostose met overheersende craniofaciale betrokkenheid"},"pt":{"name":"Disostose com envolvimento predominantemente craniofacial"},"pl":{"name":"Dyzostoza z dominującym udziałem czaszkowo-twarzowym"},"cs":{"name":"Dysostózy s predominantním kraniofaciálním postižením"},"uk":{"name":"Дизостоз з переважним ураженням черепно-лицьового відділу"},"zh":{"name":"骨发育不全伴颅面受累"},"tr":{"name":"Dominant kraniyofasiyal tutulum ile seyreden disostoz"}},"xrefs":[{"source":"ICD-11","code":"LD25.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2114373392"},{"source":"UMLS","code":"C5681592","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":364559,"name":"Dysostosis","classifications":[147,199]},{"orpha":404568,"name":"Dysostosis of genetic origin","classifications":[156]}],"children":[{"orpha":1517,"name":"Cantú syndrome","type":"Malformation syndrome"},{"orpha":459061,"name":"Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":363705,"name":"Craniofaciofrontodigital syndrome","type":"Disease"},{"orpha":3262,"name":"Dobrow syndrome","type":"Malformation syndrome"},{"orpha":314555,"name":"Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome","type":"Malformation syndrome"},{"orpha":2769,"name":"Familial osteodysplasia, Anderson type","type":"Malformation syndrome"},{"orpha":250,"name":"Frontonasal dysplasia","type":"Clinical group"},{"orpha":2549,"name":"Oculoauriculovertebral spectrum with radial defects","type":"Malformation syndrome"},{"orpha":1794,"name":"Oculomaxillofacial dysostosis","type":"Malformation syndrome"},{"orpha":140997,"name":"Orofaciodigital syndrome","type":"Clinical group"},{"orpha":155896,"name":"Otomandibular dysplasia","type":"Category"},{"orpha":3291,"name":"Teebi-Shaltout syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}