{"entities":{"Q94037":{"pageid":84430,"ns":120,"title":"Item:Q94037","lastrevid":526730,"modified":"2026-08-16T09:09:16Z","type":"item","id":"Q94037","labels":{"mul":{"language":"mul","value":"ID_1768777374"},"pt-br":{"language":"pt-br","value":"Defici\u00eancia de manosiltransferase 2"},"en":{"language":"en","value":"Mannosyltransferase 2 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 1I \u00e9 caracterizada por atraso psicomotor grave, convuls\u00f5es, colobomas bilaterais da \u00edris, catarata, nistagmo e anomalias de coagula\u00e7\u00e3o. At\u00e9 o momento, a s\u00edndrome foi relatada em apenas uma menina. Est\u00e1 associada a uma muta\u00e7\u00e3o no gene ALG2 (localizado na regi\u00e3o q22 do cromossomo 9) levando a uma defici\u00eancia na enzima alfa-1,3-manosil transferase do ret\u00edculo endoplasm\u00e1tico."},"en":{"language":"en","value":"The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ii is characterised by severe psychomotor delay, seizures, bilateral colobomas of the iris, cataract, nystagmus and coagulation anomalies. To date, the syndrome has been reported in only one girl. It is associated with a mutation in the ALG2 gene (localised to the q22 region of chromosome 9) leading to a deficiency in the endoplasmic reticulum enzyme alpha-1,3-mannosyl transferase."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"de6073cf823aa5160ef99a0aecccc8063c9b76f8","datavalue":{"value":"https://id.who.int/icd/entity/1768777374","type":"string"},"datatype":"url"},"type":"statement","id":"Q94037$7778A1BF-7FC1-4C30-90A4-9152619478F4","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"9fdee96442539d6303852b8ad3242dbe4ae3d0dd","datavalue":{"value":"CID11:ID_1768777374","type":"string"},"datatype":"string"},"type":"statement","id":"Q94037$B5968268-4573-4C88-9E45-6C6BF97AE701","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"fde8099f224d37944a8b925ba2a233137b375289","datavalue":{"value":"dki-india-ID_1768777374","type":"string"},"datatype":"string"},"type":"statement","id":"Q94037$A954423D-9702-4806-9FBF-8B1EF28A63F0","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q94037$0D0B9139-6DFA-43B4-804A-9EBE49D0BDD6","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q94037$BF4D15BB-12A6-4C7A-8AD2-7649CDBEDAB2","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":"Q94037$71927DCA-B034-412F-9E3E-76F73D4B13CA","rank":"normal"}]},"sitelinks":{}}}}