PubMed:16361247 / 145-612 JSONTXT

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    sentences

    {"project":"sentences","denotations":[{"id":"TextSentencer_T2","span":{"begin":0,"end":467},"obj":"Sentence"},{"id":"T2","span":{"begin":0,"end":467},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Sialidosis and galactosialidosis are lysosomal storage diseases caused by the genetic defects of lysosomal sialidase (neuraminidase-1; NEU1) and lysosomal protective protein/cathepsin A (PPCA), respectively, associated with a NEU1 deficiency, excessive accumulation of sialylglycoconjugates, and development of progressive neurosomatic manifestations; in addition, the latter disorder is accompanied by simultaneous deficiencies of beta-galactosidase and cathepsin A."}

    GlycoBiology-GDGDB

    {"project":"GlycoBiology-GDGDB","denotations":[{"id":"_T1","span":{"begin":135,"end":139},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00012"},{"id":"_T2","span":{"begin":135,"end":139},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00013"},{"id":"_T3","span":{"begin":135,"end":139},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00014"},{"id":"_T4","span":{"begin":135,"end":139},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00015"},{"id":"_T5","span":{"begin":135,"end":139},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00016"},{"id":"_T6","span":{"begin":135,"end":139},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00017"},{"id":"_T7","span":{"begin":226,"end":230},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00012"},{"id":"_T8","span":{"begin":226,"end":230},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00013"},{"id":"_T9","span":{"begin":226,"end":230},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00014"},{"id":"_T10","span":{"begin":226,"end":230},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00015"},{"id":"_T11","span":{"begin":226,"end":230},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00016"},{"id":"_T12","span":{"begin":226,"end":230},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00017"}],"text":"Sialidosis and galactosialidosis are lysosomal storage diseases caused by the genetic defects of lysosomal sialidase (neuraminidase-1; NEU1) and lysosomal protective protein/cathepsin A (PPCA), respectively, associated with a NEU1 deficiency, excessive accumulation of sialylglycoconjugates, and development of progressive neurosomatic manifestations; in addition, the latter disorder is accompanied by simultaneous deficiencies of beta-galactosidase and cathepsin A."}

    uniprot-human

    {"project":"uniprot-human","denotations":[{"id":"T1","span":{"begin":97,"end":116},"obj":"http://www.uniprot.org/uniprot/Q99519"},{"id":"T2","span":{"begin":135,"end":139},"obj":"http://www.uniprot.org/uniprot/Q99519"},{"id":"T3","span":{"begin":226,"end":230},"obj":"http://www.uniprot.org/uniprot/Q99519"},{"id":"T8","span":{"begin":145,"end":173},"obj":"http://www.uniprot.org/uniprot/P10619"},{"id":"T9","span":{"begin":187,"end":191},"obj":"http://www.uniprot.org/uniprot/P10619"},{"id":"T11","span":{"begin":455,"end":466},"obj":"http://www.uniprot.org/uniprot/P10619"},{"id":"T12","span":{"begin":432,"end":450},"obj":"http://www.uniprot.org/uniprot/P16278"}],"text":"Sialidosis and galactosialidosis are lysosomal storage diseases caused by the genetic defects of lysosomal sialidase (neuraminidase-1; NEU1) and lysosomal protective protein/cathepsin A (PPCA), respectively, associated with a NEU1 deficiency, excessive accumulation of sialylglycoconjugates, and development of progressive neurosomatic manifestations; in addition, the latter disorder is accompanied by simultaneous deficiencies of beta-galactosidase and cathepsin A."}

    uniprot-mouse

    {"project":"uniprot-mouse","denotations":[{"id":"T1","span":{"begin":97,"end":116},"obj":"http://www.uniprot.org/uniprot/O35657"},{"id":"T2","span":{"begin":145,"end":173},"obj":"http://www.uniprot.org/uniprot/P16675"},{"id":"T3","span":{"begin":187,"end":191},"obj":"http://www.uniprot.org/uniprot/P16675"},{"id":"T5","span":{"begin":455,"end":466},"obj":"http://www.uniprot.org/uniprot/P16675"},{"id":"T6","span":{"begin":432,"end":450},"obj":"http://www.uniprot.org/uniprot/P23780"}],"text":"Sialidosis and galactosialidosis are lysosomal storage diseases caused by the genetic defects of lysosomal sialidase (neuraminidase-1; NEU1) and lysosomal protective protein/cathepsin A (PPCA), respectively, associated with a NEU1 deficiency, excessive accumulation of sialylglycoconjugates, and development of progressive neurosomatic manifestations; in addition, the latter disorder is accompanied by simultaneous deficiencies of beta-galactosidase and cathepsin A."}

    GlycoBiology-NCBITAXON

    {"project":"GlycoBiology-NCBITAXON","denotations":[{"id":"T1","span":{"begin":432,"end":436},"obj":"http://purl.bioontology.org/ontology/NCBITAXON/3554"},{"id":"T2","span":{"begin":432,"end":436},"obj":"http://purl.bioontology.org/ontology/NCBITAXON/158455"}],"text":"Sialidosis and galactosialidosis are lysosomal storage diseases caused by the genetic defects of lysosomal sialidase (neuraminidase-1; NEU1) and lysosomal protective protein/cathepsin A (PPCA), respectively, associated with a NEU1 deficiency, excessive accumulation of sialylglycoconjugates, and development of progressive neurosomatic manifestations; in addition, the latter disorder is accompanied by simultaneous deficiencies of beta-galactosidase and cathepsin A."}

    GO-BP

    {"project":"GO-BP","denotations":[{"id":"T1","span":{"begin":47,"end":54},"obj":"http://purl.obolibrary.org/obo/GO_0051235"},{"id":"T2","span":{"begin":47,"end":54},"obj":"http://purl.obolibrary.org/obo/GO_0035732"},{"id":"T3","span":{"begin":296,"end":307},"obj":"http://purl.obolibrary.org/obo/GO_0032502"}],"text":"Sialidosis and galactosialidosis are lysosomal storage diseases caused by the genetic defects of lysosomal sialidase (neuraminidase-1; NEU1) and lysosomal protective protein/cathepsin A (PPCA), respectively, associated with a NEU1 deficiency, excessive accumulation of sialylglycoconjugates, and development of progressive neurosomatic manifestations; in addition, the latter disorder is accompanied by simultaneous deficiencies of beta-galactosidase and cathepsin A."}

    GO-CC

    {"project":"GO-CC","denotations":[{"id":"T1","span":{"begin":37,"end":46},"obj":"http://purl.obolibrary.org/obo/GO_0005764"},{"id":"T2","span":{"begin":97,"end":106},"obj":"http://purl.obolibrary.org/obo/GO_0005764"},{"id":"T3","span":{"begin":145,"end":154},"obj":"http://purl.obolibrary.org/obo/GO_0005764"}],"text":"Sialidosis and galactosialidosis are lysosomal storage diseases caused by the genetic defects of lysosomal sialidase (neuraminidase-1; NEU1) and lysosomal protective protein/cathepsin A (PPCA), respectively, associated with a NEU1 deficiency, excessive accumulation of sialylglycoconjugates, and development of progressive neurosomatic manifestations; in addition, the latter disorder is accompanied by simultaneous deficiencies of beta-galactosidase and cathepsin A."}

    EDAM-topics

    {"project":"EDAM-topics","denotations":[{"id":"T1","span":{"begin":37,"end":46},"obj":"http://edamontology.org/topic_0616"},{"id":"T2","span":{"begin":55,"end":63},"obj":"http://edamontology.org/topic_0634"},{"id":"T3","span":{"begin":78,"end":85},"obj":"http://edamontology.org/topic_3053"},{"id":"T4","span":{"begin":97,"end":106},"obj":"http://edamontology.org/topic_0616"},{"id":"T5","span":{"begin":145,"end":154},"obj":"http://edamontology.org/topic_0616"},{"id":"T6","span":{"begin":166,"end":173},"obj":"http://edamontology.org/topic_0078"}],"text":"Sialidosis and galactosialidosis are lysosomal storage diseases caused by the genetic defects of lysosomal sialidase (neuraminidase-1; NEU1) and lysosomal protective protein/cathepsin A (PPCA), respectively, associated with a NEU1 deficiency, excessive accumulation of sialylglycoconjugates, and development of progressive neurosomatic manifestations; in addition, the latter disorder is accompanied by simultaneous deficiencies of beta-galactosidase and cathepsin A."}

    EDAM-DFO

    {"project":"EDAM-DFO","denotations":[{"id":"T2","span":{"begin":155,"end":173},"obj":"http://edamontology.org/format_1219"},{"id":"T3","span":{"begin":166,"end":173},"obj":"http://edamontology.org/format_1208"},{"id":"T4","span":{"begin":166,"end":173},"obj":"http://edamontology.org/data_1467"}],"text":"Sialidosis and galactosialidosis are lysosomal storage diseases caused by the genetic defects of lysosomal sialidase (neuraminidase-1; NEU1) and lysosomal protective protein/cathepsin A (PPCA), respectively, associated with a NEU1 deficiency, excessive accumulation of sialylglycoconjugates, and development of progressive neurosomatic manifestations; in addition, the latter disorder is accompanied by simultaneous deficiencies of beta-galactosidase and cathepsin A."}

    DisGeNET5_gene_disease

    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and galactosialidosis are lysosomal storage diseases caused by the genetic defects of lysosomal sialidase (neuraminidase-1; NEU1) and lysosomal protective protein/cathepsin A (PPCA), respectively, associated with a NEU1 deficiency, excessive accumulation of sialylglycoconjugates, and development of progressive neurosomatic manifestations; in addition, the latter disorder is accompanied by simultaneous deficiencies of beta-galactosidase and cathepsin A."}

    GlycoBiology-MAT

    {"project":"GlycoBiology-MAT","denotations":[{"id":"T1","span":{"begin":369,"end":375},"obj":"http://purl.obolibrary.org/obo/MAT_0000488"}],"text":"Sialidosis and galactosialidosis are lysosomal storage diseases caused by the genetic defects of lysosomal sialidase (neuraminidase-1; NEU1) and lysosomal protective protein/cathepsin A (PPCA), respectively, associated with a NEU1 deficiency, excessive accumulation of sialylglycoconjugates, and development of progressive neurosomatic manifestations; in addition, the latter disorder is accompanied by simultaneous deficiencies of beta-galactosidase and cathepsin A."}

    DisGeNET

    {"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":97,"end":116},"obj":"gene:4758"},{"id":"T1","span":{"begin":15,"end":32},"obj":"disease:C0268233"},{"id":"T2","span":{"begin":97,"end":116},"obj":"gene:4758"},{"id":"T3","span":{"begin":37,"end":63},"obj":"disease:C0085078"},{"id":"T4","span":{"begin":97,"end":116},"obj":"gene:4758"},{"id":"T5","span":{"begin":226,"end":241},"obj":"disease:C0268228"},{"id":"T6","span":{"begin":135,"end":139},"obj":"gene:4758"},{"id":"T7","span":{"begin":15,"end":32},"obj":"disease:C0268233"},{"id":"T8","span":{"begin":135,"end":139},"obj":"gene:51162"},{"id":"T9","span":{"begin":15,"end":32},"obj":"disease:C0268233"},{"id":"T10","span":{"begin":135,"end":139},"obj":"gene:4758"},{"id":"T11","span":{"begin":37,"end":63},"obj":"disease:C0085078"},{"id":"T12","span":{"begin":135,"end":139},"obj":"gene:51162"},{"id":"T13","span":{"begin":37,"end":63},"obj":"disease:C0085078"},{"id":"T14","span":{"begin":135,"end":139},"obj":"gene:4758"},{"id":"T15","span":{"begin":226,"end":241},"obj":"disease:C0268228"},{"id":"T16","span":{"begin":135,"end":139},"obj":"gene:51162"},{"id":"T17","span":{"begin":226,"end":241},"obj":"disease:C0268228"},{"id":"T18","span":{"begin":145,"end":173},"obj":"gene:5476"},{"id":"T19","span":{"begin":15,"end":32},"obj":"disease:C0268233"},{"id":"T20","span":{"begin":145,"end":173},"obj":"gene:5476"},{"id":"T21","span":{"begin":226,"end":241},"obj":"disease:C0268228"},{"id":"T22","span":{"begin":174,"end":185},"obj":"gene:5476"},{"id":"T23","span":{"begin":15,"end":32},"obj":"disease:C0268233"},{"id":"T24","span":{"begin":455,"end":466},"obj":"gene:5476"},{"id":"T25","span":{"begin":226,"end":241},"obj":"disease:C0268228"},{"id":"T26","span":{"begin":432,"end":450},"obj":"gene:2720"},{"id":"T27","span":{"begin":15,"end":32},"obj":"disease:C0268233"},{"id":"T28","span":{"begin":432,"end":450},"obj":"gene:2720"},{"id":"T29","span":{"begin":37,"end":63},"obj":"disease:C0085078"},{"id":"T30","span":{"begin":432,"end":450},"obj":"gene:2720"},{"id":"T31","span":{"begin":226,"end":241},"obj":"disease:C0268228"},{"id":"T32","span":{"begin":455,"end":466},"obj":"gene:5476"},{"id":"T33","span":{"begin":15,"end":32},"obj":"disease:C0268233"},{"id":"T34","span":{"begin":455,"end":466},"obj":"gene:5476"},{"id":"T35","span":{"begin":37,"end":63},"obj":"disease:C0085078"},{"id":"T36","span":{"begin":174,"end":185},"obj":"gene:5476"},{"id":"T37","span":{"begin":226,"end":241},"obj":"disease:C0268228"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"},{"id":"R6","pred":"associated_with","subj":"T10","obj":"T11"},{"id":"R7","pred":"associated_with","subj":"T12","obj":"T13"},{"id":"R8","pred":"associated_with","subj":"T14","obj":"T15"},{"id":"R9","pred":"associated_with","subj":"T16","obj":"T17"},{"id":"R10","pred":"associated_with","subj":"T18","obj":"T19"},{"id":"R11","pred":"associated_with","subj":"T20","obj":"T21"},{"id":"R12","pred":"associated_with","subj":"T22","obj":"T23"},{"id":"R13","pred":"associated_with","subj":"T24","obj":"T25"},{"id":"R14","pred":"associated_with","subj":"T26","obj":"T27"},{"id":"R15","pred":"associated_with","subj":"T28","obj":"T29"},{"id":"R16","pred":"associated_with","subj":"T30","obj":"T31"},{"id":"R17","pred":"associated_with","subj":"T32","obj":"T33"},{"id":"R18","pred":"associated_with","subj":"T34","obj":"T35"},{"id":"R19","pred":"associated_with","subj":"T36","obj":"T37"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Sialidosis and galactosialidosis are lysosomal storage diseases caused by the genetic defects of lysosomal sialidase (neuraminidase-1; NEU1) and lysosomal protective protein/cathepsin A (PPCA), respectively, associated with a NEU1 deficiency, excessive accumulation of sialylglycoconjugates, and development of progressive neurosomatic manifestations; in addition, the latter disorder is accompanied by simultaneous deficiencies of beta-galactosidase and cathepsin A."}

    mondo_disease

    {"project":"mondo_disease","denotations":[{"id":"T3","span":{"begin":0,"end":10},"obj":"Disease"},{"id":"T4","span":{"begin":15,"end":32},"obj":"Disease"},{"id":"T5","span":{"begin":37,"end":63},"obj":"Disease"},{"id":"T6","span":{"begin":226,"end":241},"obj":"Disease"},{"id":"T7","span":{"begin":416,"end":450},"obj":"Disease"}],"attributes":[{"id":"A3","pred":"mondo_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MONDO_0017734"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"http://purl.obolibrary.org/obo/MONDO_0009737"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"http://purl.obolibrary.org/obo/MONDO_0002561"},{"id":"A6","pred":"mondo_id","subj":"T6","obj":"http://purl.obolibrary.org/obo/MONDO_0009738"},{"id":"A7","pred":"mondo_id","subj":"T7","obj":"http://purl.obolibrary.org/obo/MONDO_0018149"}],"text":"Sialidosis and galactosialidosis are lysosomal storage diseases caused by the genetic defects of lysosomal sialidase (neuraminidase-1; NEU1) and lysosomal protective protein/cathepsin A (PPCA), respectively, associated with a NEU1 deficiency, excessive accumulation of sialylglycoconjugates, and development of progressive neurosomatic manifestations; in addition, the latter disorder is accompanied by simultaneous deficiencies of beta-galactosidase and cathepsin A."}