{"entities":{"Q94047":{"pageid":84440,"ns":120,"title":"Item:Q94047","lastrevid":526808,"modified":"2026-08-16T09:09:50Z","type":"item","id":"Q94047","labels":{"mul":{"language":"mul","value":"ID_2996593"},"pt-br":{"language":"pt-br","value":"Defici\u00eancia de manosiltransferase 7-9"},"en":{"language":"en","value":"Mannosyltransferase 7-9 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 do tipo 1L \u00e9 caracterizada por atraso psicomotor, convuls\u00f5es, hipotonia e hepatomegalia. Foi descrito em duas meninas. A s\u00edndrome est\u00e1 associada a muta\u00e7\u00f5es no gene ALG9 (localizado na regi\u00e3o q23 do cromossomo 11), levando a uma defici\u00eancia na enzima alfa-1,2-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 IL is characterised by psychomotor delay, seizures, hypotonia and hepatomegaly. It has been described in two girls. The syndrome is associated with mutations in the ALG9 gene (localised to the q23 region of chromosome 11) leading to a deficiency in the endoplasmic reticulum enzyme alpha-1,2-mannosyl transferase."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"f009b7ec0b27ae3d39e01631a899177704125f91","datavalue":{"value":"https://id.who.int/icd/entity/2996593","type":"string"},"datatype":"url"},"type":"statement","id":"Q94047$2FF41EC0-4B63-4790-8B79-45E717047CC4","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"6ebca64311f78099039cc153a3df85644ec1baea","datavalue":{"value":"CID11:ID_2996593","type":"string"},"datatype":"string"},"type":"statement","id":"Q94047$13880FB9-D01A-41C2-AB68-1AA78CEE15EE","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"a1de8168c0839f806eda2035c095db262dd1ea81","datavalue":{"value":"dki-india-ID_2996593","type":"string"},"datatype":"string"},"type":"statement","id":"Q94047$4FC6B5EC-07DF-4D75-BE9A-4CD198CF0171","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q94047$FADC0246-57CB-4D85-A5F8-8A70E4E1A387","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":"Q94047$C482602B-0226-4880-A2BD-903A1BEDE801","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"378ac503ed43f21e1f461d2823a6ad59da580514","datavalue":{"value":{"time":"+2026-08-15T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q94047$AA641BF6-F974-46EF-9605-B4D9257F6706","rank":"normal"}]},"sitelinks":{}}}}