{"@context":{"dc":"http:\/\/purl.org\/dc\/elements\/1.1\/","skos":"http:\/\/www.w3.org\/2004\/02\/skos\/core#","skos:broader":{"@type":"@id"},"skos:inScheme":{"@type":"@id"},"skos:related":{"@type":"@id"},"skos:narrower":{"@type":"@id"},"skos:hasTopConcept":{"@type":"@id"},"skos:topConceptOf":{"@type":"@id"}},"@id":"https:\/\/vocabulario.abcd.usp.br\/pt-br\/?tema=19485","@type":"skos:Concept","skos:prefLabel":{"@language":"pt","@value=":"CISTIN\u00daRIA"},"skos:inScheme":"https:\/\/vocabulario.abcd.usp.br\/pt-br\/","dct:created":"2001-10-01 00:00:00","dct:modified":"2001-10-01 00:00:00","skos:scopeNote":[{"@lang":"PT","@value":"Transtorno heredit\u00e1rio devido a reabsor\u00e7\u00e3o deficiente de cistina e outros amino\u00e1cidos b\u00e1sicos pelos t\u00fabulos renais proximais. Esta forma de aminoacid\u00faria \u00e9 caracterizada pelos altos n\u00edveis urin\u00e1rios de cistina, lisina, arginina e ornitina. As muta\u00e7\u00f5es envolvem o gene SLC3A1 da prote\u00edna de transporte de amino\u00e1cidos.Fonte: DeCS. Dispon\u00edvel em: https:\/\/decs.bvsalud.org"}],"skos:narrower":["https:\/\/vocabulario.abcd.usp.br\/pt-br\/?tema=67575"],"skos:broader":["https:\/\/vocabulario.abcd.usp.br\/pt-br\/?tema=36903"]}