{"entities":{"Q41036":{"pageid":31404,"ns":120,"title":"Item:Q41036","lastrevid":134796,"modified":"2026-08-13T07:05:13Z","type":"item","id":"Q41036","labels":{"mul":{"language":"mul","value":"8A03.12"},"pt-br":{"language":"pt-br","value":"Ataxia devida \u00e0 doen\u00e7a de Refsum"},"en":{"language":"en","value":"Ataxia due to Refsum disease"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Ataxia no contexto da doen\u00e7a de Refsum, uma doen\u00e7a autoss\u00f4mica recessiva rara causada por uma muta\u00e7\u00e3o no gene PHYH, que codifica a hidroxilase peroxiss\u00f4mica fitanoil-CoA, ou no PEX7, que codifica a prote\u00edna receptora da peroxina 7. O in\u00edcio \u00e9 geralmente no final da inf\u00e2ncia, apresentando inicialmente retinite pigmentosa, com progress\u00e3o para ataxia e polineuropatia cr\u00f4nica."},"en":{"language":"en","value":"Ataxia in the setting of Refsum disease, a rare autosomal recessive disorder caused by a mutation in the PHYH gene coding for peroxisomal phytanoyl-CoA hydroxylase or PEX7, coding for peroxin 7 receptor protein. Onset is usually in late childhood, initially presenting with retinitis pigmentosa, with progression to ataxia and chronic polyneuropathy."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"3d640e68509ecb978b65407ee9b4437ce866bd3e","datavalue":{"value":"https://id.who.int/icd/entity/2055588684","type":"string"},"datatype":"url"},"type":"statement","id":"Q41036$001EF26F-182E-4E24-8CF7-E31BCE7ED87B","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"bd4211c576a32ce8fb17ba57eee692551444a172","datavalue":{"value":"CID11:8A03.12","type":"string"},"datatype":"string"},"type":"statement","id":"Q41036$34CB451A-50DD-4743-80E1-C4938FFEC4D1","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"8c35640b150c505130483a9b4e3499c0fadc7ffd","datavalue":{"value":"dki-india-8A03.12","type":"string"},"datatype":"string"},"type":"statement","id":"Q41036$1E9878CA-13FB-4ED7-A6B4-C0D1F86CE481","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q41036$2483920F-0652-4A1D-831C-69C81A69A699","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":"Q41036$5E9F7384-280E-4399-9ECE-F88FE2F47BA5","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q41036$C9578203-FC09-4BFC-8BC6-927B72605F79","rank":"normal"}],"P89":[{"mainsnak":{"snaktype":"value","property":"P89","hash":"3f643971cfec16268e9f563a0091da0944ac4f8e","datavalue":{"value":{"entity-type":"item","numeric-id":16811,"id":"Q16811"},"type":"wikibase-entityid"},"datatype":"wikibase-item"},"type":"statement","id":"Q41036$4B6C67DA-89E5-4C18-938E-C9B8E6EF2EBB","rank":"normal"}]},"sitelinks":{}}}}