PubMed:16440883 / 0-153
Annnotations
sentences
{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":98},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":98},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.\nThe Apert syndrome is characterized by craniosynostosi"}
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":87,"end":92},"obj":"gene:2263"},{"id":"T1","span":{"begin":0,"end":14},"obj":"disease:C0001193"},{"id":"T2","span":{"begin":87,"end":92},"obj":"gene:2263"},{"id":"T3","span":{"begin":20,"end":40},"obj":"disease:C0345354"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.\nThe Apert syndrome is characterized by craniosynostosi"}
DisGeNET5_variant_disease
{"project":"DisGeNET5_variant_disease","denotations":[{"id":"16440883-0#70#79#geners79184941","span":{"begin":70,"end":79},"obj":"geners79184941"},{"id":"16440883-0#0#14#diseaseC0001193","span":{"begin":0,"end":14},"obj":"diseaseC0001193"}],"relations":[{"id":"70#79#geners791849410#14#diseaseC0001193","pred":"associated_with","subj":"16440883-0#70#79#geners79184941","obj":"16440883-0#0#14#diseaseC0001193"}],"text":"Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.\nThe Apert syndrome is characterized by craniosynostosi"}
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"16440883-0#87#92#gene2263","span":{"begin":87,"end":92},"obj":"gene2263"},{"id":"16440883-0#20#40#diseaseC0345354","span":{"begin":20,"end":40},"obj":"diseaseC0345354"}],"relations":[{"id":"87#92#gene226320#40#diseaseC0345354","pred":"associated_with","subj":"16440883-0#87#92#gene2263","obj":"16440883-0#20#40#diseaseC0345354"}],"text":"Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.\nThe Apert syndrome is characterized by craniosynostosi"}
PubCasesHPO
{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":20,"end":40},"obj":"HP:0100258"}],"text":"Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.\nThe Apert syndrome is characterized by craniosynostosi"}
PubCasesORDO
{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":0,"end":14},"obj":"ORDO:87"},{"id":"AB1","span":{"begin":103,"end":117},"obj":"ORDO:87"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.\nThe Apert syndrome is characterized by craniosynostosi"}