{"entities":{"Q94038":{"pageid":84431,"ns":120,"title":"Item:Q94038","lastrevid":526738,"modified":"2026-08-16T09:09:19Z","type":"item","id":"Q94038","labels":{"mul":{"language":"mul","value":"ID_1699521762"},"pt-br":{"language":"pt-br","value":"Defici\u00eancia de manosiltransferase 6"},"en":{"language":"en","value":"Mannosyltransferase 6 deficiency"}},"descriptions":{"pt-br":{"language":"pt-br","value":"As s\u00edndromes CDG (doen\u00e7as cong\u00eanitas 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 1D \u00e9 caracterizada por atraso psicomotor grave, convuls\u00f5es, hipotonia, dismorfismo facial, microcefalia e anomalias oculares. Foi descrito em cinco crian\u00e7as. A s\u00edndrome \u00e9 causada por muta\u00e7\u00f5es no gene ALG3 (localizado na regi\u00e3o q27 do cromossomo 3) levando a uma defici\u00eancia de uma das manosiltransferases 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 Id is characterised by severe psychomotor delay, seizures, hypotonia, facial dysmorphism, microcephaly and ocular anomalies. It has been described in five children. The syndrome is caused by mutations in the ALG3 gene (localised to the q27 region of chromosome 3) leading to a deficiency of one of the endoplasmic reticulum mannosyltransferases (dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase)."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"bd5607296aaafa877e73c522a5eef7abbc5b314a","datavalue":{"value":"https://id.who.int/icd/entity/1699521762","type":"string"},"datatype":"url"},"type":"statement","id":"Q94038$475BE121-218A-403B-B8C8-E53DB84C7161","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"e0a7a78cc2ee939bae41b426f261311ffd435d29","datavalue":{"value":"CID11:ID_1699521762","type":"string"},"datatype":"string"},"type":"statement","id":"Q94038$B26637DA-7ED3-4A71-9B4F-0090C24EDA85","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"4d1a5ec2ac595d1ccb86c6d71deedc6d42215a30","datavalue":{"value":"dki-india-ID_1699521762","type":"string"},"datatype":"string"},"type":"statement","id":"Q94038$9E3D7CB1-6EAC-478C-A340-935B5D421B20","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q94038$96E5DAD4-FE89-4A77-A85F-D31DA90B9997","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":"Q94038$6DA314CF-E7C8-4132-8F58-5B9CDF67CB45","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":"Q94038$7836D11E-E97F-4E67-9CCD-0C420FC6D8B9","rank":"normal"}]},"sitelinks":{}}}}