PMC:7274950 / 1870-2324
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/7274950","sourcedb":"PMC","sourceid":"7274950","source_url":"https://www.ncbi.nlm.nih.gov/pmc/7274950","text":"Typical signs and symptoms in the early phase of the classic phenotype are acroparesthesia, episodes of diarrhea and abdominal pain, cornea verticillata, dyshidrosis, tinnitus, angiokeratomas, and microalbuminuria [1]. Severe organ manifestations become evident during the third decade of life in males and approximately the fourth decade of life in females [2,3]. Cardiac hypertrophy, renal dysfunction, and stroke are the most severe complications [4].","tracks":[{"project":"LitCovid-PMC-OGER-BB","denotations":[{"id":"T24","span":{"begin":117,"end":126},"obj":"UBERON:0000916"},{"id":"T25","span":{"begin":133,"end":139},"obj":"UBERON:0000964"},{"id":"T26","span":{"begin":226,"end":231},"obj":"UBERON:0000062"},{"id":"T27","span":{"begin":289,"end":293},"obj":"UBERON:0000104"},{"id":"T28","span":{"begin":342,"end":346},"obj":"UBERON:0000104"},{"id":"T29","span":{"begin":365,"end":372},"obj":"UBERON:0000948"},{"id":"T30","span":{"begin":386,"end":391},"obj":"UBERON:0002113"},{"id":"T45454","span":{"begin":117,"end":126},"obj":"UBERON:0000916"},{"id":"T95453","span":{"begin":133,"end":139},"obj":"UBERON:0000964"},{"id":"T23173","span":{"begin":226,"end":231},"obj":"UBERON:0000062"},{"id":"T27671","span":{"begin":289,"end":293},"obj":"UBERON:0000104"},{"id":"T65885","span":{"begin":342,"end":346},"obj":"UBERON:0000104"},{"id":"T31116","span":{"begin":365,"end":372},"obj":"UBERON:0000948"},{"id":"T76687","span":{"begin":386,"end":391},"obj":"UBERON:0002113"}],"attributes":[{"subj":"T24","pred":"source","obj":"LitCovid-PMC-OGER-BB"},{"subj":"T25","pred":"source","obj":"LitCovid-PMC-OGER-BB"},{"subj":"T26","pred":"source","obj":"LitCovid-PMC-OGER-BB"},{"subj":"T27","pred":"source","obj":"LitCovid-PMC-OGER-BB"},{"subj":"T28","pred":"source","obj":"LitCovid-PMC-OGER-BB"},{"subj":"T29","pred":"source","obj":"LitCovid-PMC-OGER-BB"},{"subj":"T30","pred":"source","obj":"LitCovid-PMC-OGER-BB"},{"subj":"T45454","pred":"source","obj":"LitCovid-PMC-OGER-BB"},{"subj":"T95453","pred":"source","obj":"LitCovid-PMC-OGER-BB"},{"subj":"T23173","pred":"source","obj":"LitCovid-PMC-OGER-BB"},{"subj":"T27671","pred":"source","obj":"LitCovid-PMC-OGER-BB"},{"subj":"T65885","pred":"source","obj":"LitCovid-PMC-OGER-BB"},{"subj":"T31116","pred":"source","obj":"LitCovid-PMC-OGER-BB"},{"subj":"T76687","pred":"source","obj":"LitCovid-PMC-OGER-BB"}]},{"project":"LitCovid-PubTator","denotations":[{"id":"72","span":{"begin":75,"end":90},"obj":"Disease"},{"id":"73","span":{"begin":104,"end":112},"obj":"Disease"},{"id":"74","span":{"begin":117,"end":131},"obj":"Disease"},{"id":"75","span":{"begin":154,"end":165},"obj":"Disease"},{"id":"76","span":{"begin":167,"end":175},"obj":"Disease"},{"id":"77","span":{"begin":177,"end":191},"obj":"Disease"},{"id":"78","span":{"begin":197,"end":213},"obj":"Disease"},{"id":"79","span":{"begin":365,"end":384},"obj":"Disease"},{"id":"80","span":{"begin":386,"end":403},"obj":"Disease"},{"id":"81","span":{"begin":409,"end":415},"obj":"Disease"}],"attributes":[{"id":"A72","pred":"tao:has_database_id","subj":"72","obj":"MESH:D010292"},{"id":"A73","pred":"tao:has_database_id","subj":"73","obj":"MESH:D003967"},{"id":"A74","pred":"tao:has_database_id","subj":"74","obj":"MESH:D015746"},{"id":"A76","pred":"tao:has_database_id","subj":"76","obj":"MESH:D014012"},{"id":"A77","pred":"tao:has_database_id","subj":"77","obj":"MESH:D000794"},{"id":"A79","pred":"tao:has_database_id","subj":"79","obj":"MESH:D006332"},{"id":"A80","pred":"tao:has_database_id","subj":"80","obj":"MESH:D007674"},{"id":"A81","pred":"tao:has_database_id","subj":"81","obj":"MESH:D020521"},{"subj":"72","pred":"source","obj":"LitCovid-PubTator"},{"subj":"73","pred":"source","obj":"LitCovid-PubTator"},{"subj":"74","pred":"source","obj":"LitCovid-PubTator"},{"subj":"75","pred":"source","obj":"LitCovid-PubTator"},{"subj":"76","pred":"source","obj":"LitCovid-PubTator"},{"subj":"77","pred":"source","obj":"LitCovid-PubTator"},{"subj":"78","pred":"source","obj":"LitCovid-PubTator"},{"subj":"79","pred":"source","obj":"LitCovid-PubTator"},{"subj":"80","pred":"source","obj":"LitCovid-PubTator"},{"subj":"81","pred":"source","obj":"LitCovid-PubTator"}],"namespaces":[{"prefix":"Tax","uri":"https://www.ncbi.nlm.nih.gov/taxonomy/"},{"prefix":"MESH","uri":"https://id.nlm.nih.gov/mesh/"},{"prefix":"Gene","uri":"https://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"CVCL","uri":"https://web.expasy.org/cellosaurus/CVCL_"}]},{"project":"LitCovid-PD-FMA-UBERON","denotations":[{"id":"T6","span":{"begin":133,"end":139},"obj":"Body_part"},{"id":"T7","span":{"begin":226,"end":231},"obj":"Body_part"}],"attributes":[{"id":"A6","pred":"fma_id","subj":"T6","obj":"http://purl.org/sig/ont/fma/fma58238"},{"id":"A7","pred":"fma_id","subj":"T7","obj":"http://purl.org/sig/ont/fma/fma67498"},{"subj":"T6","pred":"source","obj":"LitCovid-PD-FMA-UBERON"},{"subj":"T7","pred":"source","obj":"LitCovid-PD-FMA-UBERON"}]},{"project":"LitCovid-PD-UBERON","denotations":[{"id":"T2","span":{"begin":133,"end":139},"obj":"Body_part"},{"id":"T3","span":{"begin":226,"end":231},"obj":"Body_part"}],"attributes":[{"id":"A2","pred":"uberon_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/UBERON_0000964"},{"id":"A3","pred":"uberon_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/UBERON_0000062"},{"subj":"T2","pred":"source","obj":"LitCovid-PD-UBERON"},{"subj":"T3","pred":"source","obj":"LitCovid-PD-UBERON"}]},{"project":"LitCovid-PD-MONDO","denotations":[{"id":"T20","span":{"begin":104,"end":112},"obj":"Disease"},{"id":"T21","span":{"begin":154,"end":165},"obj":"Disease"},{"id":"T22","span":{"begin":177,"end":191},"obj":"Disease"},{"id":"T23","span":{"begin":409,"end":415},"obj":"Disease"}],"attributes":[{"id":"A20","pred":"mondo_id","subj":"T20","obj":"http://purl.obolibrary.org/obo/MONDO_0001673"},{"id":"A21","pred":"mondo_id","subj":"T21","obj":"http://purl.obolibrary.org/obo/MONDO_0006540"},{"id":"A22","pred":"mondo_id","subj":"T22","obj":"http://purl.obolibrary.org/obo/MONDO_0003143"},{"id":"A23","pred":"mondo_id","subj":"T23","obj":"http://purl.obolibrary.org/obo/MONDO_0005098"},{"id":"A24","pred":"mondo_id","subj":"T23","obj":"http://purl.obolibrary.org/obo/MONDO_0011057"},{"subj":"T20","pred":"source","obj":"LitCovid-PD-MONDO"},{"subj":"T21","pred":"source","obj":"LitCovid-PD-MONDO"},{"subj":"T22","pred":"source","obj":"LitCovid-PD-MONDO"},{"subj":"T23","pred":"source","obj":"LitCovid-PD-MONDO"}]},{"project":"LitCovid-PD-CLO","denotations":[{"id":"T19","span":{"begin":133,"end":139},"obj":"http://purl.obolibrary.org/obo/UBERON_0000964"},{"id":"T20","span":{"begin":133,"end":139},"obj":"http://www.ebi.ac.uk/efo/EFO_0000377"},{"id":"T21","span":{"begin":226,"end":231},"obj":"http://purl.obolibrary.org/obo/UBERON_0003103"},{"id":"T22","span":{"begin":297,"end":302},"obj":"http://purl.obolibrary.org/obo/UBERON_0003101"},{"id":"T23","span":{"begin":297,"end":302},"obj":"http://www.ebi.ac.uk/efo/EFO_0000970"},{"id":"T24","span":{"begin":350,"end":357},"obj":"http://purl.obolibrary.org/obo/UBERON_0003100"}],"attributes":[{"subj":"T19","pred":"source","obj":"LitCovid-PD-CLO"},{"subj":"T20","pred":"source","obj":"LitCovid-PD-CLO"},{"subj":"T21","pred":"source","obj":"LitCovid-PD-CLO"},{"subj":"T22","pred":"source","obj":"LitCovid-PD-CLO"},{"subj":"T23","pred":"source","obj":"LitCovid-PD-CLO"},{"subj":"T24","pred":"source","obj":"LitCovid-PD-CLO"}]},{"project":"LitCovid-PD-HP","denotations":[{"id":"T5","span":{"begin":75,"end":90},"obj":"Phenotype"},{"id":"T6","span":{"begin":104,"end":112},"obj":"Phenotype"},{"id":"T7","span":{"begin":117,"end":131},"obj":"Phenotype"},{"id":"T8","span":{"begin":133,"end":152},"obj":"Phenotype"},{"id":"T9","span":{"begin":167,"end":175},"obj":"Phenotype"},{"id":"T10","span":{"begin":177,"end":191},"obj":"Phenotype"},{"id":"T11","span":{"begin":197,"end":213},"obj":"Phenotype"},{"id":"T12","span":{"begin":409,"end":415},"obj":"Phenotype"}],"attributes":[{"id":"A5","pred":"hp_id","subj":"T5","obj":"http://purl.obolibrary.org/obo/HP_0031006"},{"id":"A6","pred":"hp_id","subj":"T6","obj":"http://purl.obolibrary.org/obo/HP_0002014"},{"id":"A7","pred":"hp_id","subj":"T7","obj":"http://purl.obolibrary.org/obo/HP_0002027"},{"id":"A8","pred":"hp_id","subj":"T8","obj":"http://purl.obolibrary.org/obo/HP_0500008"},{"id":"A9","pred":"hp_id","subj":"T9","obj":"http://purl.obolibrary.org/obo/HP_0000360"},{"id":"A10","pred":"hp_id","subj":"T10","obj":"http://purl.obolibrary.org/obo/HP_0001014"},{"id":"A11","pred":"hp_id","subj":"T11","obj":"http://purl.obolibrary.org/obo/HP_0012594"},{"id":"A12","pred":"hp_id","subj":"T12","obj":"http://purl.obolibrary.org/obo/HP_0001297"},{"subj":"T5","pred":"source","obj":"LitCovid-PD-HP"},{"subj":"T6","pred":"source","obj":"LitCovid-PD-HP"},{"subj":"T7","pred":"source","obj":"LitCovid-PD-HP"},{"subj":"T8","pred":"source","obj":"LitCovid-PD-HP"},{"subj":"T9","pred":"source","obj":"LitCovid-PD-HP"},{"subj":"T10","pred":"source","obj":"LitCovid-PD-HP"},{"subj":"T11","pred":"source","obj":"LitCovid-PD-HP"},{"subj":"T12","pred":"source","obj":"LitCovid-PD-HP"}]},{"project":"LitCovid-sentences","denotations":[{"id":"T16","span":{"begin":0,"end":218},"obj":"Sentence"},{"id":"T17","span":{"begin":219,"end":364},"obj":"Sentence"},{"id":"T18","span":{"begin":365,"end":454},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"attributes":[{"subj":"T16","pred":"source","obj":"LitCovid-sentences"},{"subj":"T17","pred":"source","obj":"LitCovid-sentences"},{"subj":"T18","pred":"source","obj":"LitCovid-sentences"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"LitCovid-PMC-OGER-BB","color":"#ecc393","default":true},{"id":"LitCovid-PubTator","color":"#a993ec"},{"id":"LitCovid-PD-FMA-UBERON","color":"#97ec93"},{"id":"LitCovid-PD-UBERON","color":"#ec93b1"},{"id":"LitCovid-PD-MONDO","color":"#93cbec"},{"id":"LitCovid-PD-CLO","color":"#e5ec93"},{"id":"LitCovid-PD-HP","color":"#d993ec"},{"id":"LitCovid-sentences","color":"#93ecbf"}]}]}}