PubMed:15033202 / 91-354 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/15033202","sourcedb":"PubMed","sourceid":"15033202","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/15033202","text":"The Nijmegen breakage syndrome is a rare autosomal recessive chromosomal instability disorder characterized by early growth retardation, congenital microcephaly, immunodeficiency, borderline mental development, and a high tendency to lymphoreticular malignancies.","tracks":[{"project":"LitCoin-entities","denotations":[{"id":"576","span":{"begin":4,"end":30},"obj":"DiseaseOrPhenotypicFeature"},{"id":"577","span":{"begin":41,"end":93},"obj":"DiseaseOrPhenotypicFeature"},{"id":"578","span":{"begin":117,"end":135},"obj":"DiseaseOrPhenotypicFeature"},{"id":"579","span":{"begin":137,"end":160},"obj":"DiseaseOrPhenotypicFeature"},{"id":"580","span":{"begin":162,"end":178},"obj":"DiseaseOrPhenotypicFeature"},{"id":"581","span":{"begin":234,"end":262},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A3","pred":"db_id","subj":"576","obj":"MESH:D049932"},{"id":"A4","pred":"db_id","subj":"577","obj":"MESH:D043171"},{"id":"A5","pred":"db_id","subj":"578","obj":"MESH:D006130"},{"id":"A6","pred":"db_id","subj":"579","obj":"MESH:D008831"},{"id":"A7","pred":"db_id","subj":"580","obj":"MESH:D007153"},{"id":"A8","pred":"db_id","subj":"581","obj":"MESH:D049932"},{"subj":"576","pred":"source","obj":"LitCoin-entities"},{"subj":"577","pred":"source","obj":"LitCoin-entities"},{"subj":"578","pred":"source","obj":"LitCoin-entities"},{"subj":"579","pred":"source","obj":"LitCoin-entities"},{"subj":"580","pred":"source","obj":"LitCoin-entities"},{"subj":"581","pred":"source","obj":"LitCoin-entities"}],"namespaces":[{"prefix":"_base","uri":"https://w3id.org/biolink/vocab/"},{"prefix":"MESH","uri":"http://id.nlm.nih.gov/mesh/"},{"prefix":"NCBITaxon","uri":"https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id="},{"prefix":"NCBIGene","uri":"https://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"OMIM","uri":"https://www.omim.org/entry/"},{"prefix":"DBSNP","uri":"https://www.ncbi.nlm.nih.gov/snp/"}]},{"project":"LitCoin-sentences","denotations":[{"id":"T2","span":{"begin":0,"end":263},"obj":"Sentence"}],"attributes":[{"subj":"T2","pred":"source","obj":"LitCoin-sentences"}]},{"project":"LitCoin_Mondo","denotations":[{"id":"T3","span":{"begin":4,"end":30},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":36,"end":40},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":137,"end":147},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":148,"end":160},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0009623"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0021136"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0021140"},{"id":"A6","pred":"mondo_id","subj":"T6","obj":"0001149"},{"subj":"T3","pred":"source","obj":"LitCoin_Mondo"},{"subj":"T4","pred":"source","obj":"LitCoin_Mondo"},{"subj":"T5","pred":"source","obj":"LitCoin_Mondo"},{"subj":"T6","pred":"source","obj":"LitCoin_Mondo"}]},{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T2","span":{"begin":22,"end":30},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":36,"end":40},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":111,"end":116},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":117,"end":123},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":162,"end":178},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":217,"end":221},"obj":"GeneOrGeneProduct"}],"attributes":[{"subj":"T2","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T3","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T4","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T5","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T6","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T7","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"}]},{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T2","span":{"begin":22,"end":30},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":36,"end":40},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":111,"end":116},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":117,"end":123},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":162,"end":178},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":217,"end":221},"obj":"GeneOrGeneProduct"}],"attributes":[{"subj":"T2","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v2"},{"subj":"T3","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v2"},{"subj":"T4","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v2"},{"subj":"T5","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v2"},{"subj":"T6","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v2"},{"subj":"T7","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v2"}]},{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T3","span":{"begin":4,"end":30},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":61,"end":84},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":148,"end":160},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":250,"end":262},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A3","pred":"originalLabel","subj":"T3","obj":"D049932"},{"id":"A4","pred":"originalLabel","subj":"T4","obj":"D043171"},{"id":"A5","pred":"originalLabel","subj":"T5","obj":"D008831"},{"id":"A6","pred":"originalLabel","subj":"T6","obj":"D009369"},{"subj":"T3","pred":"source","obj":"LitCoin-Disease-MeSH"},{"subj":"T4","pred":"source","obj":"LitCoin-Disease-MeSH"},{"subj":"T5","pred":"source","obj":"LitCoin-Disease-MeSH"},{"subj":"T6","pred":"source","obj":"LitCoin-Disease-MeSH"}]},{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T2","span":{"begin":4,"end":30},"obj":"GeneOrGeneProduct"}],"attributes":[{"subj":"T2","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v3"}]},{"project":"LitCoin_Mondo_095","denotations":[{"id":"T3","span":{"begin":4,"end":30},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":148,"end":160},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":162,"end":178},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0009623"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0001149"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0021094"},{"subj":"T3","pred":"source","obj":"LitCoin_Mondo_095"},{"subj":"T4","pred":"source","obj":"LitCoin_Mondo_095"},{"subj":"T5","pred":"source","obj":"LitCoin_Mondo_095"}]},{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T3","span":{"begin":4,"end":30},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":61,"end":84},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":117,"end":135},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":148,"end":160},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":162,"end":178},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":250,"end":262},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A3","pred":"ID:","subj":"T3","obj":"D049932"},{"id":"A4","pred":"ID:","subj":"T4","obj":"D043171"},{"id":"A5","pred":"ID:","subj":"T5","obj":"DISEASE"},{"id":"A6","pred":"ID:","subj":"T6","obj":"D008831"},{"id":"A7","pred":"ID:","subj":"T7","obj":"DISEASE"},{"id":"A8","pred":"ID:","subj":"T8","obj":"D009369"},{"subj":"T3","pred":"source","obj":"LitCoin-MeSH-Disease-2"},{"subj":"T4","pred":"source","obj":"LitCoin-MeSH-Disease-2"},{"subj":"T5","pred":"source","obj":"LitCoin-MeSH-Disease-2"},{"subj":"T6","pred":"source","obj":"LitCoin-MeSH-Disease-2"},{"subj":"T7","pred":"source","obj":"LitCoin-MeSH-Disease-2"},{"subj":"T8","pred":"source","obj":"LitCoin-MeSH-Disease-2"}]},{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T3","span":{"begin":4,"end":30},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":61,"end":84},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":117,"end":135},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":148,"end":160},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":162,"end":178},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":250,"end":262},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A3","pred":"#label","subj":"T3","obj":"D049932"},{"id":"A4","pred":"#label","subj":"T4","obj":"D043171"},{"id":"A5","pred":"#label","subj":"T5","obj":"DISEASE"},{"id":"A6","pred":"#label","subj":"T6","obj":"D008831"},{"id":"A7","pred":"#label","subj":"T7","obj":"DISEASE"},{"id":"A8","pred":"#label","subj":"T8","obj":"D009369"},{"subj":"T3","pred":"source","obj":"LitCoin-MONDO_bioort2019"},{"subj":"T4","pred":"source","obj":"LitCoin-MONDO_bioort2019"},{"subj":"T5","pred":"source","obj":"LitCoin-MONDO_bioort2019"},{"subj":"T6","pred":"source","obj":"LitCoin-MONDO_bioort2019"},{"subj":"T7","pred":"source","obj":"LitCoin-MONDO_bioort2019"},{"subj":"T8","pred":"source","obj":"LitCoin-MONDO_bioort2019"}]},{"project":"LitCoin-training-merged","denotations":[{"id":"T2","span":{"begin":4,"end":30},"obj":"GeneOrGeneProduct"},{"id":"T13360","span":{"begin":250,"end":262},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T23922","span":{"begin":162,"end":178},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T84434","span":{"begin":148,"end":160},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T925","span":{"begin":117,"end":135},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2738","span":{"begin":61,"end":84},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T83827","span":{"begin":4,"end":30},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A8","pred":"#label","subj":"T13360","obj":"D009369"},{"id":"A7","pred":"#label","subj":"T23922","obj":"DISEASE"},{"id":"A6","pred":"#label","subj":"T84434","obj":"D008831"},{"id":"A5","pred":"#label","subj":"T925","obj":"DISEASE"},{"id":"A4","pred":"#label","subj":"T2738","obj":"D043171"},{"id":"A3","pred":"#label","subj":"T83827","obj":"D049932"},{"subj":"T2","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T13360","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T23922","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T84434","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T925","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T2738","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T83827","pred":"source","obj":"LitCoin-training-merged"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"LitCoin-entities","color":"#c493ec","default":true},{"id":"LitCoin-sentences","color":"#93ecaa"},{"id":"LitCoin_Mondo","color":"#ec9395"},{"id":"LitCoin-GeneOrGeneProduct-v0","color":"#93afec"},{"id":"LitCoin-GeneOrGeneProduct-v2","color":"#c9ec93"},{"id":"LitCoin-Disease-MeSH","color":"#ec93e3"},{"id":"LitCoin-GeneOrGeneProduct-v3","color":"#93ecda"},{"id":"LitCoin_Mondo_095","color":"#ecc093"},{"id":"LitCoin-MeSH-Disease-2","color":"#a693ec"},{"id":"LitCoin-MONDO_bioort2019","color":"#99ec93"},{"id":"LitCoin-training-merged","color":"#ec93b3"}]}]}}