PubMed:14707127 / 0-256 JSONTXT

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{"project":"GlyCosmos6-Glycan-Motif-Structure","denotations":[{"id":"T1","span":{"begin":17,"end":36},"obj":"https://glytoucan.org/Structures/Glycans/G64581RP"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the"}

{"project":"Glycosmos6-MAT","denotations":[{"id":"T1","span":{"begin":205,"end":211},"obj":"http://purl.obolibrary.org/obo/MAT_0000025"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the"}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":149,"end":157},"obj":"HP_0003198"},{"id":"T2","span":{"begin":163,"end":178},"obj":"HP_0003805"},{"id":"T3","span":{"begin":185,"end":204},"obj":"HP_0000007"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the"}

{"project":"NGLY1-deficiency","denotations":[{"id":"PD-NGLY1-deficiency-B_T1","span":{"begin":17,"end":36},"obj":"chem:24139"}],"namespaces":[{"prefix":"hgnc","uri":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:"},{"prefix":"omim","uri":"https://www.omim.org/entry/"},{"prefix":"chem","uri":"https://pubchem.ncbi.nlm.nih.gov/compound/"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the"}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"14707127-0#13#75#gene10020","span":{"begin":13,"end":75},"obj":"gene10020"},{"id":"14707127-0#104#140#diseaseC1853926","span":{"begin":104,"end":140},"obj":"diseaseC1853926"}],"relations":[{"id":"13#75#gene10020104#140#diseaseC1853926","pred":"associated_with","subj":"14707127-0#13#75#gene10020","obj":"14707127-0#104#140#diseaseC1853926"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the"}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":13,"end":75},"obj":"gene:10020"},{"id":"T1","span":{"begin":104,"end":140},"obj":"disease:C1853926"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the"}

{"project":"Anatomy-MAT","denotations":[{"id":"T1","span":{"begin":205,"end":211},"obj":"Body_part"}],"attributes":[{"id":"A1","pred":"mat_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MAT_0000025"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the"}

{"project":"HP-phenotype","denotations":[{"id":"T1","span":{"begin":111,"end":119},"obj":"Phenotype"},{"id":"T2","span":{"begin":125,"end":140},"obj":"Phenotype"},{"id":"T3","span":{"begin":149,"end":157},"obj":"Phenotype"},{"id":"T4","span":{"begin":163,"end":178},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0003198"},{"id":"A2","pred":"hp_id","subj":"T2","obj":"HP:0003805"},{"id":"A3","pred":"hp_id","subj":"T3","obj":"HP:0003198"},{"id":"A4","pred":"hp_id","subj":"T4","obj":"HP:0003805"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the"}

{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":104,"end":140},"obj":"Disease"},{"id":"T3","span":{"begin":142,"end":178},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0007827"},{"id":"A2","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0011603"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MONDO_0007827"},{"id":"A4","pred":"mondo_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MONDO_0011603"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the"}

{"project":"GlyCosmos15-HP","denotations":[{"id":"T1","span":{"begin":111,"end":119},"obj":"Phenotype"},{"id":"T2","span":{"begin":125,"end":140},"obj":"Phenotype"},{"id":"T3","span":{"begin":149,"end":157},"obj":"Phenotype"},{"id":"T4","span":{"begin":163,"end":178},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0003198"},{"id":"A2","pred":"hp_id","subj":"T2","obj":"HP:0003805"},{"id":"A3","pred":"hp_id","subj":"T3","obj":"HP:0003198"},{"id":"A4","pred":"hp_id","subj":"T4","obj":"HP:0003805"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the"}

{"project":"GlyCosmos15-MONDO","denotations":[{"id":"T1","span":{"begin":104,"end":140},"obj":"Disease"},{"id":"T3","span":{"begin":142,"end":178},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0007827"},{"id":"A2","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0011603"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MONDO_0007827"},{"id":"A4","pred":"mondo_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MONDO_0011603"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the"}

{"project":"GlyCosmos15-UBERON","denotations":[{"id":"T1","span":{"begin":205,"end":211},"obj":"Body_part"}],"attributes":[{"id":"A1","pred":"uberon_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/UBERON_0001630"},{"id":"A2","pred":"uberon_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/UBERON_0005090"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the"}

{"project":"GlyCosmos15-MAT","denotations":[{"id":"T1","span":{"begin":205,"end":211},"obj":"Body_part"}],"attributes":[{"id":"A1","pred":"mat_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MAT_0000025"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the"}

{"project":"sentences","denotations":[{"id":"T1","span":{"begin":0,"end":141},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the"}

{"project":"GlyCosmos15-Sentences","blocks":[{"id":"T1","span":{"begin":0,"end":141},"obj":"Sentence"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the"}

{"project":"Lectin-Jamboree-Sentence","blocks":[{"id":"T1","span":{"begin":0,"end":141},"obj":"Sentence"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the"}

{"project":"Anatomy-UBERON","denotations":[{"id":"T1","span":{"begin":205,"end":211},"obj":"Body_part"}],"attributes":[{"id":"A1","pred":"uberon_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/UBERON_0001630"},{"id":"A2","pred":"uberon_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/UBERON_0005090"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the"}