{"entities":{"Q46632":{"pageid":37003,"ns":120,"title":"Item:Q46632","lastrevid":182881,"modified":"2026-08-13T15:21:13Z","type":"item","id":"Q46632","labels":{"mul":{"language":"mul","value":"LD24.G2"},"pt-br":{"language":"pt-br","value":"S\u00edndrome de Apert"},"en":{"language":"en","value":"Apert syndrome"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A s\u00edndrome de Apert \u00e9 uma craniossinostose sindr\u00f4mica associada a muta\u00e7\u00f5es no gene FGFR2 e caracterizada por fechamento prematuro da sutura coronal e in\u00edcio tardio de pansinostose. Patognom\u00f4nico \u00e9 uma sindactilia \u00f3ssea e membranosa de pelo menos Digitus II-IV (dedos das m\u00e3os e dos p\u00e9s). Alta incid\u00eancia de hipoplasia da face m\u00e9dia com estenose orbit\u00e1ria e facial, fenda palatina, fus\u00e3o vertebral. D\u00e9ficits intelectuais em 30%."},"en":{"language":"en","value":"Apert syndrome is a syndromic craniosynostosis associated with mutations in the FGFR2 gene and characterised by premature closure of coronal suture and a later onset of pansynostosis. Pathognomonic is an osseous and membranous syndactyly of at least Digitus II-IV (fingers and toes). High incidence of midface hypoplasia with orbital and facial stenosis, cleft palate, vertebral fusion. Mental deficits in 30%."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"660d042da3d4da46210d63b54f9a59bc733edbf6","datavalue":{"value":"https://id.who.int/icd/entity/1962779847","type":"string"},"datatype":"url"},"type":"statement","id":"Q46632$C7C1E8EA-9588-4DDF-8AF2-79CD50C16E69","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"ba0dafed6a34288c1cb7a3cb0c6356b03b9add5b","datavalue":{"value":"CID11:LD24.G2","type":"string"},"datatype":"string"},"type":"statement","id":"Q46632$CFD968B2-5DF9-4EEC-83F5-B2EFF20A852E","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"45c2c72ff642be4af96b189df5d4cb7cd9257891","datavalue":{"value":"dki-india-LD24.G2","type":"string"},"datatype":"string"},"type":"statement","id":"Q46632$81FA8E2C-B5FD-48A5-8C5F-E34293DFEB1B","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q46632$D3A48B70-1572-47DF-9BEB-F5CBF8440855","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":"Q46632$BDC79B84-1A75-419C-8959-C29D7E250A32","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":"Q46632$882B7DA6-95D3-45B7-8739-5EC7B9D1D51F","rank":"normal"}],"P89":[{"mainsnak":{"snaktype":"value","property":"P89","hash":"38712009e937870dccc449cddedfef849c714512","datavalue":{"value":{"entity-type":"item","numeric-id":798,"id":"Q798"},"type":"wikibase-entityid"},"datatype":"wikibase-item"},"type":"statement","id":"Q46632$74FF89D6-E004-44DA-9594-6C5C8BABE261","rank":"normal"}]},"sitelinks":{}}}}