> top > docs > PubMed:11928606 > annotations

PubMed:11928606 JSONTXT

Annnotations TAB JSON ListView MergeView

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-27 Sentence denotes [The Lesch-Nyhan syndrome].
TextSentencer_T2 28-62 Sentence denotes Les-Nijanov (Lesch-Nyhan) sindrom.
TextSentencer_T3 63-355 Sentence denotes Deficiency of hypoxanthine phosphoribosyltransferase (HPRT) has a broad spectrum of clinical manifestations, from the complete enzyme defect, the Lesch-Nyhan syndrome with severe neurological deficiency to the partial defect associated only with uric acid overproduction and its consequences.
TextSentencer_T4 356-410 Sentence denotes We present a 5-year old boy with Lesch-Nyhan syndrome.
TextSentencer_T5 411-492 Sentence denotes He came to our hospital because of abdominal pain, vomiting and gross haematuria.
TextSentencer_T6 493-642 Sentence denotes At the age of 8 months he was categorized as a "cerebral palsy" patient due to involuntary movements and high degree of spastically and tonic spasms.
TextSentencer_T7 643-694 Sentence denotes He remained incapable of sitting or standing alone.
TextSentencer_T8 695-814 Sentence denotes The patient's brother and two uncles were also categorized as "cerebral palsy" cases and died at the age of 8-14 years.
TextSentencer_T9 815-926 Sentence denotes Clinical examination revealed hyperuricaemia and hyperuricosuria, radiolucent renal and urinary bladder stones.
TextSentencer_T10 927-1052 Sentence denotes HPRT enzyme activity was totally absent, while adenine phosphoribosyl transferase activity was increased compared to control.
TextSentencer_T11 1053-1181 Sentence denotes The patient was treated with allopurinol, urinary alkalization, low-purine diet and adequate hydration while he was in hospital.
TextSentencer_T12 1182-1243 Sentence denotes However, his parents refused further treatment and follow-up.
TextSentencer_T13 1244-1354 Sentence denotes The most important issue is whether the healthy sisters of the patients are heterozygotes for HPRT deficiency.
TextSentencer_T14 1355-1392 Sentence denotes This DNA analysis is now in progress.
T1 0-27 Sentence denotes [The Lesch-Nyhan syndrome].
T2 28-62 Sentence denotes Les-Nijanov (Lesch-Nyhan) sindrom.
T3 63-355 Sentence denotes Deficiency of hypoxanthine phosphoribosyltransferase (HPRT) has a broad spectrum of clinical manifestations, from the complete enzyme defect, the Lesch-Nyhan syndrome with severe neurological deficiency to the partial defect associated only with uric acid overproduction and its consequences.
T4 356-410 Sentence denotes We present a 5-year old boy with Lesch-Nyhan syndrome.
T5 411-492 Sentence denotes He came to our hospital because of abdominal pain, vomiting and gross haematuria.
T6 493-642 Sentence denotes At the age of 8 months he was categorized as a "cerebral palsy" patient due to involuntary movements and high degree of spastically and tonic spasms.
T7 643-694 Sentence denotes He remained incapable of sitting or standing alone.
T8 695-814 Sentence denotes The patient's brother and two uncles were also categorized as "cerebral palsy" cases and died at the age of 8-14 years.
T9 815-926 Sentence denotes Clinical examination revealed hyperuricaemia and hyperuricosuria, radiolucent renal and urinary bladder stones.
T10 927-1052 Sentence denotes HPRT enzyme activity was totally absent, while adenine phosphoribosyl transferase activity was increased compared to control.
T11 1053-1181 Sentence denotes The patient was treated with allopurinol, urinary alkalization, low-purine diet and adequate hydration while he was in hospital.
T12 1182-1243 Sentence denotes However, his parents refused further treatment and follow-up.
T13 1244-1354 Sentence denotes The most important issue is whether the healthy sisters of the patients are heterozygotes for HPRT deficiency.
T14 1355-1392 Sentence denotes This DNA analysis is now in progress.

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 903-918 http://purl.obolibrary.org/obo/UBERON_0001255 denotes urinary bladder
PD-UBERON-AE-B_T2 462-470 http://purl.obolibrary.org/obo/UBERON_0000172 denotes vomiting

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 446-460 HP:0002027 denotes abdominal pain
AB2 462-470 HP:0002013 denotes vomiting
AB3 541-555 HP:0100021 denotes cerebral palsy
AB4 572-593 HP:0004305 denotes involuntary movements
AB5 758-772 HP:0100021 denotes cerebral palsy
AB6 864-879 HP:0003149 denotes hyperuricosuria
AB7 911-925 HP:0010474 denotes bladder stones

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 5-25 ORDO:510 denotes Lesch-Nyhan syndrome
AB1 209-229 ORDO:510 denotes Lesch-Nyhan syndrome
AB2 389-409 ORDO:510 denotes Lesch-Nyhan syndrome

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 462-470 http://purl.obolibrary.org/obo/UBERON_0000172 denotes vomiting
PD-UBERON-AE-B_T2 903-918 http://purl.obolibrary.org/obo/UBERON_0001255 denotes urinary bladder