PubMed:8301658
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/8301658","sourcedb":"PubMed","sourceid":"8301658","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/8301658","text":"X linked recessive thrombocytopenia.\nA Saudi Arab boy presented in early childhood with thrombocytopenia, morphologically large and normal sized platelets, increased mean platelet volume, and a hypermegakaryocytic bone marrow. There was no clinical and laboratory evidence of any significant immunological abnormalities. Similar findings in two other brothers suggested strongly that they were all suffering from an X linked recessive thrombocytopenic disorder. Results of DNA analysis with the probe M27 beta are consistent with X linkage and indicate also that the locus of the relevant gene lies close to or is identical to the locus of the gene for the Wiskott-Aldrich syndrome (WAS). Because of various features which include the presence of large and normal sized platelets (rather than small platelets) and freedom from significant immune deficiencies, it is likely that the X linked recessive thrombocytopenia in this family is an isolated entity quite distinct from the classical WAS phenotype. However, a modified expression of the WAS gene producing a mild phenotypic variant cannot be excluded entirely.","tracks":[{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":0,"end":35},"obj":"SpecificDisease:OMIM:313900"},{"id":"T2","span":{"begin":88,"end":104},"obj":"SpecificDisease:D013921"},{"id":"T3","span":{"begin":292,"end":319},"obj":"DiseaseClass:D007154"},{"id":"T4","span":{"begin":416,"end":460},"obj":"SpecificDisease:OMIM:313900"},{"id":"T5","span":{"begin":657,"end":681},"obj":"SpecificDisease:D014923"},{"id":"T6","span":{"begin":683,"end":686},"obj":"SpecificDisease:D014923"},{"id":"T7","span":{"begin":839,"end":858},"obj":"DiseaseClass:D007154"},{"id":"T8","span":{"begin":882,"end":917},"obj":"SpecificDisease:OMIM:313900"},{"id":"T9","span":{"begin":989,"end":992},"obj":"Modifier:D014923"},{"id":"T10","span":{"begin":1042,"end":1045},"obj":"Modifier:D014923"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T2","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T3","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T4","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T5","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T6","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T7","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T8","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T9","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T10","pred":"source","obj":"NCBIDiseaseCorpus"}]},{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":214,"end":225},"obj":"http://purl.obolibrary.org/obo/UBERON_0002371"}],"attributes":[{"subj":"PD-UBERON-AE-B_T1","pred":"source","obj":"performance-test"}]},{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":36},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":37,"end":226},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":227,"end":320},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":321,"end":461},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":462,"end":688},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":689,"end":1003},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":1004,"end":1115},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":36},"obj":"Sentence"},{"id":"T2","span":{"begin":37,"end":226},"obj":"Sentence"},{"id":"T3","span":{"begin":227,"end":320},"obj":"Sentence"},{"id":"T4","span":{"begin":321,"end":461},"obj":"Sentence"},{"id":"T5","span":{"begin":462,"end":688},"obj":"Sentence"},{"id":"T6","span":{"begin":689,"end":1003},"obj":"Sentence"},{"id":"T7","span":{"begin":1004,"end":1115},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"attributes":[{"subj":"TextSentencer_T1","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T2","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T3","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T4","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T5","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T6","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T7","pred":"source","obj":"sentences"},{"subj":"T1","pred":"source","obj":"sentences"},{"subj":"T2","pred":"source","obj":"sentences"},{"subj":"T3","pred":"source","obj":"sentences"},{"subj":"T4","pred":"source","obj":"sentences"},{"subj":"T5","pred":"source","obj":"sentences"},{"subj":"T6","pred":"source","obj":"sentences"},{"subj":"T7","pred":"source","obj":"sentences"}]},{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":214,"end":225},"obj":"http://purl.obolibrary.org/obo/UBERON_0002371"}],"attributes":[{"subj":"PD-UBERON-AE-B_T1","pred":"source","obj":"UBERON-AE"}]},{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":19,"end":35},"obj":"HP:0001873"},{"id":"AB1","span":{"begin":88,"end":104},"obj":"HP:0001873"},{"id":"AB2","span":{"begin":156,"end":186},"obj":"HP:0011877"},{"id":"AB3","span":{"begin":901,"end":917},"obj":"HP:0001873"}],"attributes":[{"subj":"TI1","pred":"source","obj":"PubCasesHPO"},{"subj":"AB1","pred":"source","obj":"PubCasesHPO"},{"subj":"AB2","pred":"source","obj":"PubCasesHPO"},{"subj":"AB3","pred":"source","obj":"PubCasesHPO"}]},{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":657,"end":681},"obj":"ORDO:906"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"attributes":[{"subj":"AB1","pred":"source","obj":"PubCasesORDO"}]},{"project":"NCBI-Disease-Train","denotations":[{"id":"T4753","span":{"begin":0,"end":35},"obj":"SpecificDisease"},{"id":"T4754","span":{"begin":88,"end":104},"obj":"SpecificDisease"},{"id":"T4755","span":{"begin":292,"end":319},"obj":"DiseaseClass"},{"id":"T4756","span":{"begin":416,"end":460},"obj":"SpecificDisease"},{"id":"T4757","span":{"begin":657,"end":681},"obj":"SpecificDisease"},{"id":"T4758","span":{"begin":683,"end":686},"obj":"SpecificDisease"},{"id":"T4759","span":{"begin":839,"end":858},"obj":"DiseaseClass"},{"id":"T4760","span":{"begin":882,"end":917},"obj":"SpecificDisease"},{"id":"T4761","span":{"begin":989,"end":992},"obj":"Modifier"},{"id":"T4762","span":{"begin":1042,"end":1045},"obj":"Modifier"}],"attributes":[{"id":"A4753","pred":"database_id","subj":"T4753","obj":"OMIM:313900"},{"id":"A4754","pred":"database_id","subj":"T4754","obj":"D013921"},{"id":"A4755","pred":"database_id","subj":"T4755","obj":"D007154"},{"id":"A4756","pred":"database_id","subj":"T4756","obj":"OMIM:313900"},{"id":"A4757","pred":"database_id","subj":"T4757","obj":"D014923"},{"id":"A4758","pred":"database_id","subj":"T4758","obj":"D014923"},{"id":"A4759","pred":"database_id","subj":"T4759","obj":"D007154"},{"id":"A4760","pred":"database_id","subj":"T4760","obj":"OMIM:313900"},{"id":"A4761","pred":"database_id","subj":"T4761","obj":"D014923"},{"id":"A4762","pred":"database_id","subj":"T4762","obj":"D014923"},{"subj":"T4753","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T4754","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T4755","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T4756","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T4757","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T4758","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T4759","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T4760","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T4761","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T4762","pred":"source","obj":"NCBI-Disease-Train"}]},{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T4753","span":{"begin":0,"end":35},"obj":"SpecificDisease"},{"id":"T4754","span":{"begin":88,"end":104},"obj":"SpecificDisease"},{"id":"T4755","span":{"begin":292,"end":319},"obj":"DiseaseClass"},{"id":"T4756","span":{"begin":416,"end":460},"obj":"SpecificDisease"},{"id":"T4757","span":{"begin":657,"end":681},"obj":"SpecificDisease"},{"id":"T4758","span":{"begin":683,"end":686},"obj":"SpecificDisease"},{"id":"T4759","span":{"begin":839,"end":858},"obj":"DiseaseClass"},{"id":"T4760","span":{"begin":882,"end":917},"obj":"SpecificDisease"},{"id":"T4761","span":{"begin":989,"end":992},"obj":"Modifier"},{"id":"T4762","span":{"begin":1042,"end":1045},"obj":"Modifier"}],"attributes":[{"id":"A4753","pred":"database_id","subj":"T4753","obj":"OMIM:313900"},{"id":"A4754","pred":"database_id","subj":"T4754","obj":"D013921"},{"id":"A4755","pred":"database_id","subj":"T4755","obj":"D007154"},{"id":"A4756","pred":"database_id","subj":"T4756","obj":"OMIM:313900"},{"id":"A4757","pred":"database_id","subj":"T4757","obj":"D014923"},{"id":"A4758","pred":"database_id","subj":"T4758","obj":"D014923"},{"id":"A4759","pred":"database_id","subj":"T4759","obj":"D007154"},{"id":"A4760","pred":"database_id","subj":"T4760","obj":"OMIM:313900"},{"id":"A4761","pred":"database_id","subj":"T4761","obj":"D014923"},{"id":"A4762","pred":"database_id","subj":"T4762","obj":"D014923"},{"subj":"T4753","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T4754","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T4755","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T4756","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T4757","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T4758","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T4759","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T4760","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T4761","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T4762","pred":"source","obj":"NCBI-Disease-Corpus-All"}]},{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":19,"end":35},"obj":"DiseaseClass"},{"id":"T2","span":{"begin":88,"end":104},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":435,"end":460},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":657,"end":681},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":683,"end":686},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":901,"end":917},"obj":"DiseaseClass"},{"id":"T7","span":{"begin":989,"end":992},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":1042,"end":1045},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T7","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T8","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"}]},{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":19,"end":35},"obj":"DiseaseClass"},{"id":"T2","span":{"begin":88,"end":104},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":657,"end":681},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":683,"end":686},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":901,"end":917},"obj":"DiseaseClass"},{"id":"T6","span":{"begin":989,"end":1002},"obj":"Modifier"},{"id":"T7","span":{"begin":1042,"end":1045},"obj":"Modifier"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"},{"subj":"T7","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"}]},{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":0,"end":35},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":88,"end":104},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":416,"end":460},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":657,"end":681},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":882,"end":917},"obj":"Modifier"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"}]},{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":0,"end":35},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":88,"end":104},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":292,"end":319},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":416,"end":460},"obj":"CompositeMention"},{"id":"T5","span":{"begin":657,"end":687},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":839,"end":858},"obj":"DiseaseClass"},{"id":"T7","span":{"begin":882,"end":917},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":989,"end":1002},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1015,"end":1034},"obj":"Modifier"},{"id":"T10","span":{"begin":1042,"end":1086},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T7","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T8","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T9","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T10","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"NCBIDiseaseCorpus","color":"#ecb393","default":true},{"id":"performance-test","color":"#9993ec"},{"id":"sentences","color":"#a7ec93"},{"id":"UBERON-AE","color":"#ec93c1"},{"id":"PubCasesHPO","color":"#93dbec"},{"id":"PubCasesORDO","color":"#ece393"},{"id":"NCBI-Disease-Train","color":"#c993ec"},{"id":"NCBI-Disease-Corpus-All","color":"#93ecaf"},{"id":"NCBI-Disease-Corpus-2stage-All","color":"#ec9593"},{"id":"NCBI-Disease-Corpus-rezarta-All","color":"#93abec"},{"id":"NCBI-Disease-Corpus-4oGuideline-All","color":"#c5ec93"},{"id":"NCBI-Disease-Corpus-Simple-All","color":"#ec93df"}]}]}}