{"entities":{"Q39496":{"pageid":29862,"ns":120,"title":"Item:Q39496","lastrevid":121236,"modified":"2026-08-13T04:56:11Z","type":"item","id":"Q39496","labels":{"mul":{"language":"mul","value":"3A03.0"},"pt-br":{"language":"pt-br","value":"Acid\u00faria or\u00f3tica heredit\u00e1ria"},"en":{"language":"en","value":"Hereditary orotic aciduria"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A acid\u00faria or\u00f3tica heredit\u00e1ria \u00e9 uma doen\u00e7a autoss\u00f4mica recessiva extremamente rara (menos de 20 casos identificados em todo o mundo) caracterizada por atraso de crescimento , anemia e excre\u00e7\u00e3o urin\u00e1ria excessiva de \u00e1cido or\u00f3tico. \u00c9 devida a uma defici\u00eancia grave na atividade da enzima da via da pirimidina uridina 5'-monofosfato sintase (enzima bifuncional contendo duas atividades: orotato fosforibosiltransferase e orotidina-5'-fosfato descarboxilase, codificada por um \u00fanico gene (UMPS) localizado no cromossomo 3q13."},"en":{"language":"en","value":"Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterised by retarded growth, anaemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localised to chromosome 3q13."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"2c92ec35cd79249944676cfe94c625bde18668e5","datavalue":{"value":"https://id.who.int/icd/entity/449856959","type":"string"},"datatype":"url"},"type":"statement","id":"Q39496$E73D9025-2864-451C-8EB7-AF0C26256033","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"44a439bae797053128f88fd664effc0fd2803932","datavalue":{"value":"CID11:3A03.0","type":"string"},"datatype":"string"},"type":"statement","id":"Q39496$3E22FA32-F115-41E9-897B-6D9529344AF2","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"e2fbb8b1a5391c50c4fbf2ac500ed943071a9669","datavalue":{"value":"dki-india-3A03.0","type":"string"},"datatype":"string"},"type":"statement","id":"Q39496$E2A16D5B-8D35-4473-8143-9BDB41DB4A67","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q39496$61EC23AC-2A96-4F3D-8702-66AFC71522F9","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":"Q39496$1BDFE676-286E-4B5F-AD97-809299289DC1","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q39496$D8D836AA-32B8-49A9-80FD-B8BD760FE3E0","rank":"normal"}],"P89":[{"mainsnak":{"snaktype":"value","property":"P89","hash":"56f80e8ace568d21251ced720d1c48075ba5cda1","datavalue":{"value":{"entity-type":"item","numeric-id":14634,"id":"Q14634"},"type":"wikibase-entityid"},"datatype":"wikibase-item"},"type":"statement","id":"Q39496$E273ECEA-E8FB-4B30-A1DA-546ABB02F7ED","rank":"normal"}]},"sitelinks":{}}}}