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PubMed:10528860 JSONTXT

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PMID_GLOBAL

Id Subject Object Predicate Lexical cue mondo_id
T1 0-45 DiseaseOrPhenotypicFeature denotes Maternal uniparental disomy for chromosome 14 0019915
T2 106-151 DiseaseOrPhenotypicFeature denotes maternal uniparental disomy for chromosome 14 0019915
T3 181-183 DiseaseOrPhenotypicFeature denotes he 0017319
T4 247-268 DiseaseOrPhenotypicFeature denotes Prader-Willi syndrome 0008300
T5 270-273 DiseaseOrPhenotypicFeature denotes PWS 0008300
T6 301-308 DiseaseOrPhenotypicFeature denotes obesity 0011122
T7 336-350 DiseaseOrPhenotypicFeature denotes cryptorchidism 0009047
T8 417-448 DiseaseOrPhenotypicFeature denotes intrauterine growth retardation 0005030
T9 547-549 DiseaseOrPhenotypicFeature denotes he 0017319
T10 667-669 DiseaseOrPhenotypicFeature denotes he 0017319
T11 857-874 DiseaseOrPhenotypicFeature denotes sleep disturbance 0100081
T12 934-955 DiseaseOrPhenotypicFeature denotes Prader-Willi syndrome 0008300
T13 997-999 DiseaseOrPhenotypicFeature denotes he 0017319
T14 1059-1062 DiseaseOrPhenotypicFeature denotes PWS 0008300
T15 1125-1143 DiseaseOrPhenotypicFeature denotes precocious puberty 0000088
T16 1574-1577 DiseaseOrPhenotypicFeature denotes PWS 0008300

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 286-299 HP_0004322 denotes short stature
T2 301-308 HP_0001513 denotes obesity
T3 315-334 HP_0001263 denotes developmental delay
T4 336-350 HP_0000028 denotes cryptorchidism
T5 417-448 HP_0001511 denotes intrauterine growth retardation
T6 430-448 HP_0001510 denotes growth retardation
T7 557-566 HP_0001252 denotes hypotonia
T8 572-584 HP_0002033 denotes poor sucking
T9 677-682 HP_0001513 denotes obese
T10 750-754 HP_0012531 denotes pain
T11 1125-1143 HP_0000826 denotes precocious puberty

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10528860-17#68#71#gene7389 1539-1542 gene7389 denotes UPD
10528860-17#103#106#diseaseC0032897 1574-1577 diseaseC0032897 denotes PWS
68#71#gene7389103#106#diseaseC0032897 10528860-17#68#71#gene7389 10528860-17#103#106#diseaseC0032897 associated_with UPD,PWS

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 720-730 http://purl.obolibrary.org/obo/UBERON_0001756 denotes middle ear
PD-UBERON-AE-B_T2 727-730 http://purl.obolibrary.org/obo/UBERON_0001690 denotes ear

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 286-299 HP:0004322 denotes short stature
AB2 301-308 HP:0001513 denotes obesity
AB3 336-350 HP:0000028 denotes cryptorchidism
AB4 417-448 HP:0001511 denotes intrauterine growth retardation
AB5 572-584 HP:0002033 denotes poor sucking
AB6 750-754 HP:0012531 denotes pain
AB7 857-874 HP:0002360 denotes sleep disturbance
AB8 1125-1143 HP:0000826 denotes precocious puberty

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 247-268 ORDO:739 denotes Prader-Willi syndrome
AB2 934-955 ORDO:739 denotes Prader-Willi syndrome
AB3 1059-1067 ORDO:398073 denotes PWS-like
AB4 1574-1582 ORDO:398073 denotes PWS-like

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 720-730 http://purl.obolibrary.org/obo/UBERON_0001756 denotes middle ear
PD-UBERON-AE-B_T2 727-730 http://purl.obolibrary.org/obo/UBERON_0001690 denotes ear

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-79 Sentence denotes Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype.
TextSentencer_T2 80-162 Sentence denotes We report on a boy with a maternal uniparental disomy for chromosome 14 (UPD(14)).
TextSentencer_T3 163-275 Sentence denotes At 7 years of age he was referred to us by the paediatrician because of symptoms of Prader-Willi syndrome (PWS).
TextSentencer_T4 276-386 Sentence denotes He showed short stature, obesity, mild developmental delay, cryptorchidism, and some mild dysmorphic features.
TextSentencer_T5 387-477 Sentence denotes The history further indicated intrauterine growth retardation at the end of the pregnancy.
TextSentencer_T6 478-534 Sentence denotes His mother was 44 years of age at the time of his birth.
TextSentencer_T7 535-622 Sentence denotes After birth he showed hypotonia with poor sucking, for which gavage feeding was needed.
TextSentencer_T8 623-653 Sentence denotes Motor development was delayed.
TextSentencer_T9 654-709 Sentence denotes After 1 year he became obese despite a normal appetite.
TextSentencer_T10 710-818 Sentence denotes Recurrent middle ear infections, a high pain threshold, and a great skill with jigsaw puzzles were reported.
TextSentencer_T11 819-875 Sentence denotes There were no behavioural problems or sleep disturbance.
TextSentencer_T12 876-916 Sentence denotes Chromosomal analysis was normal (46,XY).
TextSentencer_T13 917-980 Sentence denotes DNA analysis for Prader-Willi syndrome showed no abnormalities.
TextSentencer_T14 981-1111 Sentence denotes Two years later he was re-examined because we thought his features fitted the PWS-like phenotype associated with maternal UPD(14).
TextSentencer_T15 1112-1156 Sentence denotes At that time precocious puberty was evident.
TextSentencer_T16 1157-1217 Sentence denotes DNA analysis showed maternal heterodisomy for chromosome 14.
TextSentencer_T17 1218-1384 Sentence denotes In all the previously described 11 cases with maternal UPD(14), a Robertsonian translocation involving chromosome 14 was detected cytogenetically before DNA analysis.
TextSentencer_T18 1385-1470 Sentence denotes This is the first report of diagnosis of maternal UPD(14) based on clinical features.
TextSentencer_T19 1471-1686 Sentence denotes This finding underlines the importance of DNA analysis for maternal UPD(14) in patients with a similar PWS-like phenotype even without previous identification of a Robertsonian translocation involving chromosome 14.
T1 0-79 Sentence denotes Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype.
T2 80-162 Sentence denotes We report on a boy with a maternal uniparental disomy for chromosome 14 (UPD(14)).
T3 163-275 Sentence denotes At 7 years of age he was referred to us by the paediatrician because of symptoms of Prader-Willi syndrome (PWS).
T4 276-386 Sentence denotes He showed short stature, obesity, mild developmental delay, cryptorchidism, and some mild dysmorphic features.
T5 387-477 Sentence denotes The history further indicated intrauterine growth retardation at the end of the pregnancy.
T6 478-534 Sentence denotes His mother was 44 years of age at the time of his birth.
T7 535-622 Sentence denotes After birth he showed hypotonia with poor sucking, for which gavage feeding was needed.
T8 623-653 Sentence denotes Motor development was delayed.
T9 654-709 Sentence denotes After 1 year he became obese despite a normal appetite.
T10 710-818 Sentence denotes Recurrent middle ear infections, a high pain threshold, and a great skill with jigsaw puzzles were reported.
T11 819-875 Sentence denotes There were no behavioural problems or sleep disturbance.
T12 876-916 Sentence denotes Chromosomal analysis was normal (46,XY).
T13 917-980 Sentence denotes DNA analysis for Prader-Willi syndrome showed no abnormalities.
T14 981-1111 Sentence denotes Two years later he was re-examined because we thought his features fitted the PWS-like phenotype associated with maternal UPD(14).
T15 1112-1156 Sentence denotes At that time precocious puberty was evident.
T16 1157-1217 Sentence denotes DNA analysis showed maternal heterodisomy for chromosome 14.
T17 1218-1384 Sentence denotes In all the previously described 11 cases with maternal UPD(14), a Robertsonian translocation involving chromosome 14 was detected cytogenetically before DNA analysis.
T18 1385-1470 Sentence denotes This is the first report of diagnosis of maternal UPD(14) based on clinical features.
T19 1471-1686 Sentence denotes This finding underlines the importance of DNA analysis for maternal UPD(14) in patients with a similar PWS-like phenotype even without previous identification of a Robertsonian translocation involving chromosome 14.

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T17 1103-1106 SpecificDisease:D024182 denotes UPD
T1 0-45 SpecificDisease:D024182 denotes Maternal uniparental disomy for chromosome 14
T2 106-151 SpecificDisease:D024182 denotes maternal uniparental disomy for chromosome 14
T3 153-156 SpecificDisease:D024182 denotes UPD
T4 247-268 SpecificDisease:D011218 denotes Prader-Willi syndrome
T5 270-273 SpecificDisease:D011218 denotes PWS
T6 286-299 DiseaseClass:D006130 denotes short stature
T7 301-308 SpecificDisease:D009765 denotes obesity
T8 315-334 DiseaseClass:D002658 denotes developmental delay
T9 336-350 SpecificDisease:D003456 denotes cryptorchidism
T10 366-385 DiseaseClass:D000013 denotes dysmorphic features
T11 417-448 DiseaseClass:D005317 denotes intrauterine growth retardation
T12 557-566 DiseaseClass:D009123 denotes hypotonia
T13 677-682 Modifier:D009765 denotes obese
T14 720-741 SpecificDisease:D010033 denotes middle ear infections
T15 934-955 SpecificDisease:D011218 denotes Prader-Willi syndrome
T16 1059-1062 Modifier:D011218 denotes PWS
T18 1177-1198 DiseaseClass:D024182 denotes maternal heterodisomy
T19 1273-1276 SpecificDisease:D024182 denotes UPD
T20 1435-1438 SpecificDisease:D024182 denotes UPD
T21 1574-1577 Modifier:D011218 denotes PWS

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1539-1542 gene:7389 denotes UPD
T1 1574-1577 disease:C0032897 denotes PWS
R1 T0 T1 associated_with UPD,PWS

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T3032 0-45 SpecificDisease denotes Maternal uniparental disomy for chromosome 14 D024182
T3033 106-151 SpecificDisease denotes maternal uniparental disomy for chromosome 14 D024182
T3034 153-156 SpecificDisease denotes UPD D024182
T3035 247-268 SpecificDisease denotes Prader-Willi syndrome D011218
T3036 270-273 SpecificDisease denotes PWS D011218
T3037 286-299 DiseaseClass denotes short stature D006130
T3038 301-308 SpecificDisease denotes obesity D009765
T3039 315-334 DiseaseClass denotes developmental delay D002658
T3040 336-350 SpecificDisease denotes cryptorchidism D003456
T3041 366-385 DiseaseClass denotes dysmorphic features D000013
T3042 417-448 DiseaseClass denotes intrauterine growth retardation D005317
T3043 557-566 DiseaseClass denotes hypotonia D009123
T3044 677-682 Modifier denotes obese D009765
T3045 720-741 SpecificDisease denotes middle ear infections D010033
T3046 934-955 SpecificDisease denotes Prader-Willi syndrome D011218
T3047 1059-1062 Modifier denotes PWS D011218
T3048 1103-1106 SpecificDisease denotes UPD D024182
T3049 1177-1198 DiseaseClass denotes maternal heterodisomy D024182
T3050 1273-1276 SpecificDisease denotes UPD D024182
T3051 1435-1438 SpecificDisease denotes UPD D024182
T3052 1574-1577 Modifier denotes PWS D011218

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T3032 0-45 SpecificDisease denotes Maternal uniparental disomy for chromosome 14 D024182
T3033 106-151 SpecificDisease denotes maternal uniparental disomy for chromosome 14 D024182
T3034 153-156 SpecificDisease denotes UPD D024182
T3035 247-268 SpecificDisease denotes Prader-Willi syndrome D011218
T3036 270-273 SpecificDisease denotes PWS D011218
T3037 286-299 DiseaseClass denotes short stature D006130
T3038 301-308 SpecificDisease denotes obesity D009765
T3039 315-334 DiseaseClass denotes developmental delay D002658
T3040 336-350 SpecificDisease denotes cryptorchidism D003456
T3041 366-385 DiseaseClass denotes dysmorphic features D000013
T3042 417-448 DiseaseClass denotes intrauterine growth retardation D005317
T3043 557-566 DiseaseClass denotes hypotonia D009123
T3044 677-682 Modifier denotes obese D009765
T3045 720-741 SpecificDisease denotes middle ear infections D010033
T3046 934-955 SpecificDisease denotes Prader-Willi syndrome D011218
T3047 1059-1062 Modifier denotes PWS D011218
T3048 1103-1106 SpecificDisease denotes UPD D024182
T3049 1177-1198 DiseaseClass denotes maternal heterodisomy D024182
T3050 1273-1276 SpecificDisease denotes UPD D024182
T3051 1435-1438 SpecificDisease denotes UPD D024182
T3052 1574-1577 Modifier denotes PWS D011218

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 247-268 SpecificDisease denotes Prader-Willi syndrome
T2 270-273 SpecificDisease denotes PWS
T3 934-955 SpecificDisease denotes Prader-Willi syndrome
T4 1059-1062 Modifier denotes PWS
T5 1574-1577 Modifier denotes PWS

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 247-268 SpecificDisease denotes Prader-Willi syndrome
T2 270-273 SpecificDisease denotes PWS
T3 934-955 SpecificDisease denotes Prader-Willi syndrome
T4 1059-1077 DiseaseClass denotes PWS-like phenotype
T5 1574-1592 DiseaseClass denotes PWS-like phenotype

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 247-268 SpecificDisease denotes Prader-Willi syndrome
T2 934-955 SpecificDisease denotes Prader-Willi syndrome

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 32-45 SpecificDisease denotes chromosome 14
T2 138-161 SpecificDisease denotes chromosome 14 (UPD(14))
T3 247-274 SpecificDisease denotes Prader-Willi syndrome (PWS)
T4 286-299 Modifier denotes short stature
T5 301-308 Modifier denotes obesity
T6 310-334 Modifier denotes mild developmental delay
T7 336-350 Modifier denotes cryptorchidism
T8 361-385 Modifier denotes mild dysmorphic features
T9 417-448 Modifier denotes intrauterine growth retardation
T10 557-584 Modifier denotes hypotonia with poor sucking
T11 623-652 Modifier denotes Motor development was delayed
T12 677-682 Modifier denotes obese
T13 710-741 DiseaseClass denotes Recurrent middle ear infections
T14 833-853 Modifier denotes behavioural problems
T15 857-874 Modifier denotes sleep disturbance
T16 934-955 SpecificDisease denotes Prader-Willi syndrome
T17 1059-1110 CompositeMention denotes PWS-like phenotype associated with maternal UPD(14)
T18 1125-1143 Modifier denotes precocious puberty
T19 1177-1216 SpecificDisease denotes maternal heterodisomy for chromosome 14
T20 1264-1280 SpecificDisease denotes maternal UPD(14)
T21 1284-1334 Modifier denotes Robertsonian translocation involving chromosome 14
T22 1426-1442 SpecificDisease denotes maternal UPD(14)
T23 1530-1546 SpecificDisease denotes maternal UPD(14)
T24 1574-1592 CompositeMention denotes PWS-like phenotype
T25 1635-1685 Modifier denotes Robertsonian translocation involving chromosome 14