[ { "record_id": "doid.0110294", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0110294", "0110294", "mondo:0014142", "0014142", "mim:615352", "615352" ] }, { "record_id": "doid.0110294", "record_type": "disease", "section": "disease_name", "phraselist": [ "autosomal", "recessive", "limb", "girdle", "muscular", "dystrophy", "type", "2t", "autosomal recessive", "recessive limb", "limb girdle", "girdle muscular", "muscular dystrophy", "dystrophy type", "type 2t", "autosomal recessive limb", "recessive limb girdle", "limb girdle muscular", "girdle muscular dystrophy", "muscular dystrophy type", "dystrophy type 2t", "autosomal recessive limb girdle", "recessive limb girdle muscular", "limb girdle muscular dystrophy", "girdle muscular dystrophy type", "muscular dystrophy type 2t", "autosomal recessive limb girdle muscular", "recessive limb girdle muscular dystrophy", "limb girdle muscular dystrophy type", "girdle muscular dystrophy type 2t", "dystrophy limb", "girdle type", "muscular dystrophy limb", "dystrophy limb girdle", "limb girdle type", "girdle type 2t", "muscular dystrophy limb girdle", "dystrophy limb girdle type", "limb girdle type 2t", "muscular dystrophy limb girdle type", "dystrophy limb girdle type 2t", "dystrophy dystroglycanopathy", "type c14", "muscular dystrophy dystroglycanopathy", "dystroglycanopathy limb", "dystrophy dystroglycanopathy limb", "dystroglycanopathy limb girdle", "girdle type c14", "muscular dystrophy dystroglycanopathy limb", "dystrophy dystroglycanopathy limb girdle", "limb girdle type c14", "girdle gmppb", "gmppb related", "limb girdle gmppb", "girdle gmppb related", "dystroglycanopathy limb girdle gmppb", "limb girdle gmppb related", "muscular dystrophy dystroglycanopathy limb girdle", "dystrophy dystroglycanopathy limb girdle gmppb", "dystroglycanopathy limb girdle gmppb related", "gmppb autosomal", "gmppb autosomal recessive", "gmppb autosomal recessive limb", "gmppb autosomal recessive limb girdle", "lgmd gmppb", "lgmd gmppb related", "dystrophy caused", "caused by", "by mutation", "mutation in", "in gmppb", "muscular dystrophy caused", "dystrophy caused by", "caused by mutation", "by mutation in", "mutation in gmppb", "girdle muscular dystrophy caused", "muscular dystrophy caused by", "dystrophy caused by mutation", "caused by mutation in", "by mutation in gmppb", "limb girdle muscular dystrophy caused", "girdle muscular dystrophy caused by", "muscular dystrophy caused by mutation", "dystrophy caused by mutation in", "caused by mutation in gmppb", "type c", "c 14", "type c 14", "girdle type c", "girdle c14", "limb girdle c14", "dystroglycanopathy limb girdle c14", "dystrophy dystroglycanopathy limb girdle c14" ] }, { "record_id": "doid.0110294", "record_type": "disease", "section": "species", "phraselist": [ "7227", "drosophila", "melanogaster", "drosophila melanogaster", "fruit", "fly", "fruit fly", "melanogaster 7227", "drosophila melanogaster 7227" ] }, { "record_id": "doid.0110294", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "doid.0110294", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "doid.0110294", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "doid.0110294", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "doid.0110294", "record_type": "disease", "section": "species", "phraselist": [ "559292", "saccharomyces", "cerevisiae", "s288c", "saccharomyces cerevisiae", "cerevisiae s288c", "saccharomyces cerevisiae s288c", "yeast", "baker's", "baker's yeast", "s288c 559292", "cerevisiae s288c 559292", "saccharomyces cerevisiae s288c 559292" ] }, { "record_id": "doid.0110294", "record_type": "disease", "section": "proteins", "phraselist": [ "q7jzb4", "q7jzb4 1", "gmppb_drome", "np_001189177", "glycoprotein", "gmppb", "cg1129", "dmel\\cg1129", "cg1129 dmel\\cg1129", "dmel_cg1129", "q9y5p6", "q9y5p6 1", "gmppb_human", "np_037466", "lgmdr19", "mddga14", "mddgb14", "mddgc14", "lgmdr19 mddga14", "mddga14 mddgb14", "mddgb14 mddgc14", "lgmdr19 mddga14 mddgb14", "mddga14 mddgb14 mddgc14", "q6dbu5", "q6dbu5 1", "gmppb_danre", "cb1066", "fc79b10", "gmppl", "wu:fc79b10", "zgc:92026", "q8btz7", "q8btz7 1", "gmppb_mouse", "np_808578", "e430010h19", "d4a746", "d4a746 1", "d4a746_rat", "p41940", "p41940 1", "mpg1_yeast", "np_010228", "psa1", "mpg1", "srb1", "vig9", "mpg1 srb1", "srb1 vig9", "mpg1 srb1 vig9" ] }, { "record_id": "doid.0110294", "record_type": "disease", "section": "proteins", "phraselist": [ "mannose 1", "1 phosphate", "phosphate guanylyltransferase", "guanylyltransferase catalytic", "catalytic subunit", "subunit beta", "mannose 1 phosphate", "1 phosphate guanylyltransferase", "phosphate guanylyltransferase catalytic", "guanylyltransferase catalytic subunit", "catalytic subunit beta", "mannose 1 phosphate guanylyltransferase", "1 phosphate guanylyltransferase catalytic", "phosphate guanylyltransferase catalytic subunit", "guanylyltransferase catalytic subunit beta", "mannose 1 phosphate guanylyltransferase catalytic", "1 phosphate guanylyltransferase catalytic subunit", "phosphate guanylyltransferase catalytic subunit beta", "cg1129 pd", "gmppb pd", "pd gmppb", "cg1129 pd gmppb", "pd gmppb pd", "cg1129 pd gmppb pd", "gdp mannose", "mannose pyrophosphorylase", "pyrophosphorylase b", "isoform d", "gdp mannose pyrophosphorylase", "mannose pyrophosphorylase b", "b isoform", "gdp mannose pyrophosphorylase b", "pyrophosphorylase b isoform", "b isoform d", "mannose pyrophosphorylase b isoform", "pyrophosphorylase b isoform d", "gtp mannose", "guanylyltransferase beta", "gtp mannose 1", "phosphate guanylyltransferase beta", "gtp mannose 1 phosphate", "1 phosphate guanylyltransferase beta", "gtp mannose 1 phosphate guanylyltransferase", "mannose 1 phosphate guanylyltransferase beta", "phosphate guanyltransferase", "guanyltransferase beta", "1 phosphate guanyltransferase", "phosphate guanyltransferase beta", "beta gtp", "beta mannose", "mannose 1 phosphate guanyltransferase", "1 phosphate guanyltransferase beta", "guanyltransferase beta gtp", "beta gtp mannose", "guanylyltransferase beta mannose", "beta mannose 1", "mannose 1 phosphate guanyltransferase beta", "phosphate guanyltransferase beta gtp", "guanyltransferase beta gtp mannose", "beta gtp mannose 1", "phosphate guanylyltransferase beta mannose", "guanylyltransferase beta mannose 1", "beta mannose 1 phosphate", "beta isoform", "isoform 1", "subunit beta isoform", "beta isoform 1", "catalytic subunit beta isoform", "subunit beta isoform 1", "guanylyltransferase catalytic subunit beta isoform", "catalytic subunit beta isoform 1", "atp mannose", "atp mannose 1", "atp mannose 1 phosphate", "atp mannose 1 phosphate guanylyltransferase", "ndp hexose", "hexose pyrophosphorylase", "ndp hexose pyrophosphorylase" ] } ]