{"entities":{"Q59118":{"pageid":49491,"ns":120,"title":"Item:Q59118","lastrevid":275643,"modified":"2026-08-14T06:39:49Z","type":"item","id":"Q59118","labels":{"mul":{"language":"mul","value":"ID_1990646046"},"pt-br":{"language":"pt-br","value":"S\u00edndrome oro-facial-digital tipo 6"},"en":{"language":"en","value":"Oral-facial-digital syndrome type 6"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A s\u00edndrome de Joubert com defici\u00eancia orofaciodigital \u00e9 um subtipo muito raro de dist\u00farbios relacionados \u00e0 s\u00edndrome de Joubert (JSRD, consulte este termo), caracterizada pelos aspectos neurol\u00f3gicos de JS associados a anomalias orofaciais e frequentemente polidactilia. Os achados orais t\u00edpicos incluem l\u00edngua b\u00edfida ou lobulada, hamartomas linguais e m\u00faltiplas fr\u00eanulas orais, mas fenda labial ou palatina tamb\u00e9m podem estar presentes. A polidactilia \u00e9 tipicamente mesaxial com metacarpos em forma de Y, mas tamb\u00e9m pode ser pr\u00e9-axial ou p\u00f3s-axial."},"en":{"language":"en","value":"Joubert syndrome with orofaciodigital defect is a very rare subtype of Joubert syndrome related disorders (JSRD, see this term) characterised by the neurological features of JS associated with orofacial anomalies and often polydactyly. Typical oral findings include bifid or lobulated tongue, lingual hamartomas and multiple oral frenulae, but cleft lip and/or palate can also be present. Polydactyly is typically mesaxial with Y-shaped metacarpals, but can also be preaxial or postaxial."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"f2d5df416eb749545a5e494dde595bbb3a79eb08","datavalue":{"value":"https://id.who.int/icd/entity/1990646046","type":"string"},"datatype":"url"},"type":"statement","id":"Q59118$A321A6B4-74EE-4915-88FB-9B44195CFF77","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"46ec7b6821270838c6ac34a4fdec4d86b7d68d40","datavalue":{"value":"CID11:ID_1990646046","type":"string"},"datatype":"string"},"type":"statement","id":"Q59118$80856111-730F-467F-8266-FDCEC879667E","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"c153aab35fd9f3d58e69fc8ce19598c20ca35865","datavalue":{"value":"dki-india-ID_1990646046","type":"string"},"datatype":"string"},"type":"statement","id":"Q59118$AE7A6E13-4F83-4A3B-8993-AED2927283AF","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q59118$2645DE5C-BE49-4977-A9E8-43BE21FB9DCF","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q59118$F408A792-25D9-460A-AFC1-1C974C12EC47","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":"Q59118$7FB33AE6-9858-40F9-A6E1-61E1FCD16A17","rank":"normal"}]},"sitelinks":{}}}}