{"entities":{"Q94614":{"pageid":85007,"ns":120,"title":"Item:Q94614","lastrevid":530965,"modified":"2026-08-16T09:55:45Z","type":"item","id":"Q94614","labels":{"mul":{"language":"mul","value":"ID_1188780559"},"pt-br":{"language":"pt-br","value":"Cardiomiopatia-hipotonia-acidose l\u00e1tica"},"en":{"language":"en","value":"Cardiomyopathy - hypotonia - lactic acidosis"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Esta s\u00edndrome \u00e9 caracterizada por cardiomiopatia hipertr\u00f3fica, hipotonia muscular e presen\u00e7a de acidose l\u00e1ctica ao nascimento. Foi descrito em duas irm\u00e3s (ambas morreram no primeiro ano de vida) de uma fam\u00edlia turca n\u00e3o consangu\u00ednea. A s\u00edndrome \u00e9 causada por uma muta\u00e7\u00e3o pontual homozig\u00f3tica no exon 3A do gene SLC25A3 que codifica um transportador de membrana mitocondrial"},"en":{"language":"en","value":"This syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"dd0fa65f39e7b1214272817f3d7287de690bf741","datavalue":{"value":"https://id.who.int/icd/entity/1188780559","type":"string"},"datatype":"url"},"type":"statement","id":"Q94614$5A16AB47-43C1-439A-8BD6-233349367CED","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"e7da80b1def1597972238806bef7f54d88c42660","datavalue":{"value":"CID11:ID_1188780559","type":"string"},"datatype":"string"},"type":"statement","id":"Q94614$C2C14CC9-259A-48EB-9683-0FF868373291","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"131359eb8a86b1d8c3c4272bfb9348225994bf02","datavalue":{"value":"dki-india-ID_1188780559","type":"string"},"datatype":"string"},"type":"statement","id":"Q94614$6C7264E3-1AAB-4388-A6F5-4AC8CE0B7EAF","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q94614$DA431249-FA2D-477F-840B-DE8665E2B0F7","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":"Q94614$693FFF83-5466-4793-90AA-418867FA4CEB","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":"Q94614$22A03D68-4CC4-4D47-9BA9-B6D0ACA326BC","rank":"normal"}]},"sitelinks":{}}}}