PubMed:2793865 / 0-264 JSONTXT

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{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":139,"end":152},"obj":"HP_0001427"},{"id":"T2","span":{"begin":236,"end":255},"obj":"HP_0000007"}],"text":"Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy.\nA generalized deficiency of the mitochondrial enzyme, ornithine aminotransferase (OAT) is the inborn error in gyrate atrophy, an autosomal recessive degenera"}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"2793865-0#43#79#gene4942","span":{"begin":43,"end":79},"obj":"gene4942"},{"id":"2793865-0#91#105#diseaseC0018425","span":{"begin":91,"end":105},"obj":"diseaseC0018425"},{"id":"2793865-1#82#85#gene4942","span":{"begin":189,"end":192},"obj":"gene4942"}],"relations":[{"id":"43#79#gene494291#105#diseaseC0018425","pred":"associated_with","subj":"2793865-0#43#79#gene4942","obj":"2793865-0#91#105#diseaseC0018425"}],"text":"Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy.\nA generalized deficiency of the mitochondrial enzyme, ornithine aminotransferase (OAT) is the inborn error in gyrate atrophy, an autosomal recessive degenera"}

{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":91,"end":105},"obj":"Disease"},{"id":"T2","span":{"begin":189,"end":192},"obj":"Disease"},{"id":"T3","span":{"begin":217,"end":231},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0009796"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0004483"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MONDO_0009796"}],"text":"Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy.\nA generalized deficiency of the mitochondrial enzyme, ornithine aminotransferase (OAT) is the inborn error in gyrate atrophy, an autosomal recessive degenera"}