{"entities":{"Q102276":{"pageid":92669,"ns":120,"title":"Item:Q102276","lastrevid":586378,"modified":"2026-08-16T19:12:50Z","type":"item","id":"Q102276","labels":{"mul":{"language":"mul","value":"ID_510540173"},"pt-br":{"language":"pt-br","value":"S\u00edndrome GRACILE (atraso de crescimento-aminoacid\u00faria-colestase-sobrecarga de ferro-acidose l\u00e1tica- morte precoce)"},"en":{"language":"en","value":"GRACILE - [Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death] syndrome"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A s\u00edndrome GRACILE \u00e9 caracterizada por retardo do crescimento fetal, aminoacid\u00faria, colestase, sobrecarga de ferro, cidose l\u00e1tica e morte precoce. A s\u00edndrome afeta principalmente a popula\u00e7\u00e3o finlandesa, na qual a incid\u00eancia \u00e9 de aproximadamente 1 em 47.000. \u00c9 transmitida de forma autoss\u00f4mica recessiva. O gene causador foi identificado como BCS1L (cromossomo 2q33-37), que codifica uma prote\u00edna da membrana interna mitocondrial."},"en":{"language":"en","value":"GRACILE syndrome is characterised by fetal growth retardation (G), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E). The syndrome affects principally the Finnish population, in which the incidence is approximately 1 in 47 000. It is transmitted in an autosomal recessive manner. The causative gene has been identified as BCS1L (chromosome 2q33-37), which encodes a mitochondrial inner membrane protein."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"a4d825f7f9ec6483918d1a165bfdfb4585472f0c","datavalue":{"value":"https://id.who.int/icd/entity/510540173","type":"string"},"datatype":"url"},"type":"statement","id":"Q102276$C5248173-5026-4EA5-8CBF-F2FB11DA253B","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"e4e9bcf54b220bfd07dbe00b2357abf2fad1c421","datavalue":{"value":"CID11:ID_510540173","type":"string"},"datatype":"string"},"type":"statement","id":"Q102276$1BEB9CC4-4244-4D0B-8EBA-404FC9982DD2","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"80ac568908f7e7bd4b901f8ee8115fdc77c49052","datavalue":{"value":"dki-india-ID_510540173","type":"string"},"datatype":"string"},"type":"statement","id":"Q102276$EC21BA2C-3945-4B13-96BF-51FB42BB05C8","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q102276$0FA9B839-8483-44D1-A54E-FB87890CEB90","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q102276$D2CFDBCE-5E67-4BAF-B37C-99A72BBB7286","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":"Q102276$B1137A47-69B3-4923-847A-6095027F4148","rank":"normal"}]},"sitelinks":{}}}}