> top > docs > PubMed:1357962 > annotations

PubMed:1357962 JSONTXT

Annnotations TAB JSON ListView MergeView

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-99 Sentence denotes Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy.
TextSentencer_T2 100-212 Sentence denotes Uniparental disomy has recently been recognized to cause human disorders, including Prader-Willi syndrome (PWS).
TextSentencer_T3 213-436 Sentence denotes We describe a particularly instructive case which raises important issues concerning the mechanisms producing uniparental disomy and whose evaluation provides evidence that trisomy may precede uniparental disomy in a fetus.
TextSentencer_T4 437-586 Sentence denotes Chorionic villus sampling performed for advanced maternal age revealed trisomy 15 in all direct and cultured cells, though the fetus appeared normal.
TextSentencer_T5 587-676 Sentence denotes Chromosome analysis of amniocytes obtained at 15 wk was normal in over 100 cells studied.
TextSentencer_T6 677-840 Sentence denotes The child was hypotonic at birth, and high-resolution banding failed to reveal the deletion of 15q11-13, a deletion which is found in 50%-70% of patients with PWS.
TextSentencer_T7 841-886 Sentence denotes Over time, typical features of PWS developed.
TextSentencer_T8 887-970 Sentence denotes Molecular genetic analysis using probes for chromosome 15 revealed maternal disomy.
TextSentencer_T9 971-1236 Sentence denotes Maternal nondisjunction with fertilization of a disomic egg by a normal sperm, followed by loss of the paternal 15, is a likely cause of confined placental mosaicism and uniparental disomy in this case of PWS, and advanced maternal age may be a predisposing factor.
T1 0-99 Sentence denotes Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy.
T2 100-212 Sentence denotes Uniparental disomy has recently been recognized to cause human disorders, including Prader-Willi syndrome (PWS).
T3 213-436 Sentence denotes We describe a particularly instructive case which raises important issues concerning the mechanisms producing uniparental disomy and whose evaluation provides evidence that trisomy may precede uniparental disomy in a fetus.
T4 437-586 Sentence denotes Chorionic villus sampling performed for advanced maternal age revealed trisomy 15 in all direct and cultured cells, though the fetus appeared normal.
T5 587-676 Sentence denotes Chromosome analysis of amniocytes obtained at 15 wk was normal in over 100 cells studied.
T6 677-840 Sentence denotes The child was hypotonic at birth, and high-resolution banding failed to reveal the deletion of 15q11-13, a deletion which is found in 50%-70% of patients with PWS.
T7 841-886 Sentence denotes Over time, typical features of PWS developed.
T8 887-970 Sentence denotes Molecular genetic analysis using probes for chromosome 15 revealed maternal disomy.
T9 971-1236 Sentence denotes Maternal nondisjunction with fertilization of a disomic egg by a normal sperm, followed by loss of the paternal 15, is a likely cause of confined placental mosaicism and uniparental disomy in this case of PWS, and advanced maternal age may be a predisposing factor.

BioLarkPubmedHPO

Id Subject Object Predicate Lexical cue
HP:0008935 691-709 HP:0008935 denotes hypotonic at birth
T1 691-709 HP:0008935 denotes hypotonic at birth
T1 691-709 HP:0008935 denotes hypotonic at birth
T1 691-709 HP:0008935 denotes hypotonic at birth

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 437-453 http://purl.obolibrary.org/obo/UBERON_0007106 denotes Chorionic villus
PD-UBERON-AE-B_T2 437-446 http://purl.obolibrary.org/obo/UBERON_0003124 denotes Chorionic
PD-UBERON-AE-B_T3 1027-1030 http://purl.obolibrary.org/obo/UBERON_0007379 denotes egg
PD-UBERON-AE-B_T4 1117-1126 http://purl.obolibrary.org/obo/UBERON_0001987 denotes placental

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 54-75 ORDO:739 denotes Prader-Willi syndrome
AB1 184-205 ORDO:739 denotes Prader-Willi syndrome

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1027-1030 http://purl.obolibrary.org/obo/UBERON_0007379 denotes egg

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 0-10 SpecificDisease:C538037 denotes Trisomy 15
T2 54-75 SpecificDisease:D011218 denotes Prader-Willi syndrome
T3 83-98 SpecificDisease:D024182 denotes maternal disomy
T4 100-118 SpecificDisease:D024182 denotes Uniparental disomy
T5 184-205 SpecificDisease:D011218 denotes Prader-Willi syndrome
T6 207-210 SpecificDisease:D011218 denotes PWS
T7 323-341 SpecificDisease:D024182 denotes uniparental disomy
T8 406-424 SpecificDisease:D024182 denotes uniparental disomy
T9 508-518 SpecificDisease:C538037 denotes trisomy 15
T10 691-700 SpecificDisease:D009123 denotes hypotonic
T11 836-839 SpecificDisease:D011218 denotes PWS
T12 872-875 SpecificDisease:D011218 denotes PWS
T13 1141-1159 SpecificDisease:D024182 denotes uniparental disomy
T14 1176-1179 SpecificDisease:D011218 denotes PWS

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T1793 0-10 SpecificDisease denotes Trisomy 15 C538037
T1794 54-75 SpecificDisease denotes Prader-Willi syndrome D011218
T1795 83-98 SpecificDisease denotes maternal disomy D024182
T1796 100-118 SpecificDisease denotes Uniparental disomy D024182
T1797 184-205 SpecificDisease denotes Prader-Willi syndrome D011218
T1798 207-210 SpecificDisease denotes PWS D011218
T1799 323-341 SpecificDisease denotes uniparental disomy D024182
T1800 406-424 SpecificDisease denotes uniparental disomy D024182
T1801 508-518 SpecificDisease denotes trisomy 15 C538037
T1802 691-700 SpecificDisease denotes hypotonic D009123
T1803 836-839 SpecificDisease denotes PWS D011218
T1804 872-875 SpecificDisease denotes PWS D011218
T1805 1141-1159 SpecificDisease denotes uniparental disomy D024182
T1806 1176-1179 SpecificDisease denotes PWS D011218

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T1793 0-10 SpecificDisease denotes Trisomy 15 C538037
T1794 54-75 SpecificDisease denotes Prader-Willi syndrome D011218
T1795 83-98 SpecificDisease denotes maternal disomy D024182
T1796 100-118 SpecificDisease denotes Uniparental disomy D024182
T1797 184-205 SpecificDisease denotes Prader-Willi syndrome D011218
T1798 207-210 SpecificDisease denotes PWS D011218
T1799 323-341 SpecificDisease denotes uniparental disomy D024182
T1800 406-424 SpecificDisease denotes uniparental disomy D024182
T1801 508-518 SpecificDisease denotes trisomy 15 C538037
T1802 691-700 SpecificDisease denotes hypotonic D009123
T1803 836-839 SpecificDisease denotes PWS D011218
T1804 872-875 SpecificDisease denotes PWS D011218
T1805 1141-1159 SpecificDisease denotes uniparental disomy D024182
T1806 1176-1179 SpecificDisease denotes PWS D011218

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 54-75 SpecificDisease denotes Prader-Willi syndrome
T2 184-205 SpecificDisease denotes Prader-Willi syndrome
T3 207-210 SpecificDisease denotes PWS
T4 508-518 SpecificDisease denotes trisomy 15
T5 836-839 SpecificDisease denotes PWS
T6 872-875 SpecificDisease denotes PWS
T7 1176-1179 SpecificDisease denotes PWS

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 54-75 SpecificDisease denotes Prader-Willi syndrome
T2 184-205 SpecificDisease denotes Prader-Willi syndrome
T3 207-210 SpecificDisease denotes PWS
T4 386-393 DiseaseClass denotes trisomy
T5 508-518 DiseaseClass denotes trisomy 15
T6 836-839 SpecificDisease denotes PWS
T7 872-875 SpecificDisease denotes PWS
T8 1176-1179 SpecificDisease denotes PWS

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 54-75 SpecificDisease denotes Prader-Willi syndrome
T2 184-211 SpecificDisease denotes Prader-Willi syndrome (PWS)
T3 836-839 SpecificDisease denotes PWS
T4 872-875 SpecificDisease denotes PWS
T5 1176-1179 SpecificDisease denotes PWS

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 0-10 DiseaseClass denotes Trisomy 15
T2 54-75 SpecificDisease denotes Prader-Willi syndrome
T3 157-172 DiseaseClass denotes human disorders
T4 184-211 SpecificDisease denotes Prader-Willi syndrome (PWS)
T5 386-393 DiseaseClass denotes trisomy
T6 477-498 Modifier denotes advanced maternal age
T7 508-518 DiseaseClass denotes trisomy 15
T8 691-709 Modifier denotes hypotonic at birth
T9 811-818 Modifier denotes 50%-70%
T10 836-839 SpecificDisease denotes PWS
T11 872-875 SpecificDisease denotes PWS
T12 1176-1179 SpecificDisease denotes PWS
T13 1185-1206 Modifier denotes advanced maternal age