{"entities":{"Q94045":{"pageid":84438,"ns":120,"title":"Item:Q94045","lastrevid":526792,"modified":"2026-08-16T09:09:43Z","type":"item","id":"Q94045","labels":{"mul":{"language":"mul","value":"ID_959745817"},"pt-br":{"language":"pt-br","value":"Defici\u00eancia de glicosidase"},"en":{"language":"en","value":"Glucosidase 1 deficiency"}},"descriptions":{"pt-br":{"language":"pt-br","value":"As s\u00edndromes CDG (dist\u00farbios cong\u00eanitos de glicosila\u00e7\u00e3o) s\u00e3o um grupo de doen\u00e7as autoss\u00f4micas recessivas que afetam a s\u00edntese de glicoprote\u00ednas. A s\u00edndrome CDG tipo 2B \u00e9 caracterizada por hepatomegalia, hipoventila\u00e7\u00e3o, convuls\u00f5es e problemas de alimenta\u00e7\u00e3o. At\u00e9 o momento, foi relatado em apenas uma crian\u00e7a que morreu nos primeiros tr\u00eas meses de vida. A s\u00edndrome est\u00e1 associada a uma defici\u00eancia da enzima do ret\u00edculo endoplasm\u00e1tico, glicosidase I."},"en":{"language":"en","value":"The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIb is characterised by hepatomegaly, hypoventilation, seizures and feeding problems. To date, it has been reported in only one child who died within the first three months of life. The syndrome is associated with a deficiency in the endoplasmic reticulum enzyme, glucosidase I."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"2cf1e0a52529a5cb664fc8a6dd9167e424f1c6ae","datavalue":{"value":"https://id.who.int/icd/entity/959745817","type":"string"},"datatype":"url"},"type":"statement","id":"Q94045$8CDBC1AE-93DD-48DB-BD34-3E4E8C81D28B","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"6c0dabf67b96b251f0b755bf218869615704329c","datavalue":{"value":"CID11:ID_959745817","type":"string"},"datatype":"string"},"type":"statement","id":"Q94045$22372385-60E6-430E-A592-D299E5C5A6DD","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"6f39b22d88e61ee46e1d97d498c2664dae3df061","datavalue":{"value":"dki-india-ID_959745817","type":"string"},"datatype":"string"},"type":"statement","id":"Q94045$813B02F5-C514-4A1F-9BA1-739FD22F2524","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q94045$780BE343-B147-4CEE-AF20-AC57D6F87F88","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":"Q94045$8791FD8C-5F50-4605-824F-B3B57532B1F0","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"378ac503ed43f21e1f461d2823a6ad59da580514","datavalue":{"value":{"time":"+2026-08-15T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q94045$11E63038-8877-4687-99FA-4A4BD81F0609","rank":"normal"}]},"sitelinks":{}}}}