{"orpha":364574,"name":"Acrofacial dysostosis","type":"Clinical group","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-364574/","orphanet_url":"https://www.orpha.net/en/disease/detail/364574","names":{"fr":{"name":"Dysostose acrofaciale"},"de":{"name":"Dysostose, akrofaziale"},"es":{"name":"Disostosis acrofacial"},"it":{"name":"Disostosi acrofacciale"},"nl":{"name":"Acrofaciale dysostose"},"pt":{"name":"Disostose acrofacial"},"pl":{"name":"Dyzostoza kończynowo-twarzowa"},"cs":{"name":"Akrofaciální dysostóza"},"uk":{"name":"Акрофаціальний дизостоз"},"zh":{"name":"肩胛骨发育不良"},"tr":{"name":"Akrofasiyal disostoz"}},"xrefs":[{"source":"ICD-11","code":"LD25.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1702160042"},{"source":"MONDO","code":"0018237","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18237","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1332140","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":364571,"name":"Dysostosis with limb and face anomalies as a major feature","classifications":[147,156,199]}],"children":[{"orpha":949,"name":"Acrocraniofacial dysostosis","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":1784,"name":"Acrofrontofacionasal dysostosis","type":"Malformation syndrome"},{"orpha":1827,"name":"Acromelic frontonasal dysplasia","type":"Malformation syndrome"},{"orpha":1520,"name":"Craniofrontonasal dysplasia","type":"Malformation syndrome"},{"orpha":79113,"name":"Mandibulofacial dysostosis-microcephaly syndrome","type":"Malformation syndrome"},{"orpha":245,"name":"Nager syndrome","type":"Malformation syndrome"},{"orpha":2439,"name":"Patterson-Stevenson-Fontaine syndrome","type":"Malformation syndrome"},{"orpha":246,"name":"Postaxial acrofacial dysostosis","type":"Malformation syndrome"},{"orpha":3102,"name":"Richieri Costa-Pereira syndrome","type":"Malformation syndrome"},{"orpha":1131,"name":"X-linked mandibulofacial dysostosis","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}