{"orpha":1569,"name":"De Sanctis-Cacchione syndrome","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Xeroderma pigmentosum with neurologic manifestation"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Xeroderma pigmentosum","url":"https://raremap.alftech.space/d/ORPHA-1569/","orphanet_url":"https://www.orpha.net/en/disease/detail/1569","names":{"fr":{"name":"Syndrome de De Sanctis-Cacchione","synonyms":["Xeroderma pigmentosum avec manifestations neurologiques"]},"de":{"name":"De Sanctis-Cacchione-Syndrom","synonyms":["Xeroderma pigmentosum mit neurologischen Manifestationen"]},"es":{"name":"Síndrome de De Sanctis-Cacchione"},"it":{"name":"Sindrome di De Sanctis-Cacchione"},"nl":{"name":"Syndroom van De Sanctis-Cacchione","synonyms":["Xeroderma pigmentosum met neurologische manifestatie"]},"pt":{"name":"Síndrome De Sanctis-Cacchione"},"pl":{"name":"Zespół De Sanctis i Cacchione","synonyms":["Skóra pergaminowaz objawami neurologicznymi"]},"cs":{"name":"De Sanctisův-Cacchioneho syndrom","synonyms":["Xeroderma pigmentosum s neurologickou manifestací","De Sanctis-Cacchioneho syndrom"]},"uk":{"name":"Синдром Де Санктіса-Каккіоне","synonyms":["Пігментна ксеродермія з неврологічними проявами"]},"zh":{"name":"De Sanctis-Cacchione 综合征","synonyms":["着色性干皮病伴神经系统表现"]},"tr":{"name":"De Sanctis-Cacchione sendromu","synonyms":["Nörolojik belirti ile seyreden kseroderma pigmentozum"]}},"xrefs":[{"source":"OMIM","code":"278800","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535992","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265201","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8276","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":910,"name":"Xeroderma pigmentosum"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}