PubMed:8702490 / 0-190
Annnotations
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":170,"end":189},"obj":"gene:1836"},{"id":"T1","span":{"begin":80,"end":103},"obj":"disease:C0265274"},{"id":"T2","span":{"begin":170,"end":189},"obj":"gene:1836"},{"id":"T3","span":{"begin":148,"end":169},"obj":"disease:C0220726"}],"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":"Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter."}
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"8702490-0#170#189#gene1836","span":{"begin":170,"end":189},"obj":"gene1836"},{"id":"8702490-0#80#103#diseaseC0265274","span":{"begin":80,"end":103},"obj":"diseaseC0265274"},{"id":"8702490-0#148#169#diseaseC0220726","span":{"begin":148,"end":169},"obj":"diseaseC0220726"}],"relations":[{"id":"170#189#gene183680#103#diseaseC0265274","pred":"associated_with","subj":"8702490-0#170#189#gene1836","obj":"8702490-0#80#103#diseaseC0265274"},{"id":"170#189#gene1836148#169#diseaseC0220726","pred":"associated_with","subj":"8702490-0#170#189#gene1836","obj":"8702490-0#148#169#diseaseC0220726"}],"text":"Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter."}
sentences
{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":190},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":190},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter."}
PubCasesORDO
{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":148,"end":169},"obj":"ORDO:628"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter."}
mondo_disease
{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":80,"end":103},"obj":"Disease"},{"id":"T2","span":{"begin":148,"end":169},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0010966"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0009107"}],"text":"Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter."}
NCBITAXON
{"project":"NCBITAXON","denotations":[{"id":"T1","span":{"begin":67,"end":74},"obj":"OrganismTaxon"}],"attributes":[{"id":"A1","pred":"db_id","subj":"T1","obj":"9606"}],"text":"Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter."}
Anatomy-UBERON
{"project":"Anatomy-UBERON","denotations":[{"id":"T1","span":{"begin":47,"end":59},"obj":"Body_part"}],"attributes":[{"id":"A1","pred":"uberon_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/CL_0000138"}],"text":"Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter."}
CL-cell
{"project":"CL-cell","denotations":[{"id":"T1","span":{"begin":47,"end":59},"obj":"Cell"}],"attributes":[{"id":"A1","pred":"cl_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/CL:0000138"}],"text":"Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter."}