{"entities":{"Q56856":{"pageid":47229,"ns":120,"title":"Item:Q56856","lastrevid":259555,"modified":"2026-08-14T04:33:09Z","type":"item","id":"Q56856","labels":{"mul":{"language":"mul","value":"ID_1206275070"},"pt-br":{"language":"pt-br","value":"S\u00edndrome de Cockayne"},"en":{"language":"en","value":"Cockayne syndrome"}},"descriptions":{"pt-br":{"language":"pt-br","value":"S\u00edndrome de Cockayne (SC) \u00e9 uma condi\u00e7\u00e3o multissist\u00eamica caracterizada por baixa estatura, apar\u00eancia facial caracter\u00edstica, envelhecimento prematuro, fotossensibilidade, disfun\u00e7\u00e3o neurol\u00f3gica progressiva e d\u00e9ficit intelectual. A incid\u00eancia anual de SC \u00e9 pr\u00f3xima a 1/200.000 em pa\u00edses europeus. A gravidade da doen\u00e7a e a idade de apresenta\u00e7\u00e3o s\u00e3o vari\u00e1veis. Na SC cl\u00e1ssica do tipo I, os primeiros sintomas geralmente aparecem durante o primeiro ano de vida. Casos de in\u00edcio precoce com sintomas mais graves (tipo II) e casos de in\u00edcio tardio com sintomas mais leves (tipo III) tamb\u00e9m foram descritos. A SC pertence \u00e0 fam\u00edlia dos transtornos relacionadas a repara\u00e7\u00e3o por excis\u00e3o de nucle\u00f3tideos (NER)."},"en":{"language":"en","value":"Cockayne syndrome (CS) is a multisystem condition characterised by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit. The annual incidence of CS is close to 1/200,000 in European countries. Disease severity and the age of onset are variable. In classical type I CS, the first symptoms usually appear during the first year of life. Early-onset cases with more severe symptoms (type II) and late-onset cases with milder symptoms (type III) have also been described. CS belongs to the family of NER (nucleotide excision repair)-related disorders."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"a500d9a66e0bb41e9c7a1de22ff372b6baf771a5","datavalue":{"value":"https://id.who.int/icd/entity/1206275070","type":"string"},"datatype":"url"},"type":"statement","id":"Q56856$8AAE0CA9-2573-41E8-8C7E-E6897A2F641A","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"30d39853a2f68824b4446a4ab2f47b9b6d68ac67","datavalue":{"value":"CID11:ID_1206275070","type":"string"},"datatype":"string"},"type":"statement","id":"Q56856$8A198991-E1DF-4EDB-9736-7D12DE170D04","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"c92f31cd2a4992f8b553e573497f16a9e51d5c0f","datavalue":{"value":"dki-india-ID_1206275070","type":"string"},"datatype":"string"},"type":"statement","id":"Q56856$5742B96C-4C18-4472-B08B-CD5EE63DC1B1","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q56856$A61F0863-04AC-4899-AE0F-50D89F5857E9","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q56856$21673EA8-2FEE-4E5F-BD1F-14784571F1B5","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q56856$3F2AEEE2-F103-41A5-BF3E-57E1D0368BE7","rank":"normal"}]},"sitelinks":{}}}}